Pediatric Cardiology Board Review

Chapter 2. Congenital Cardiac Malformations

Matthew E. Ferguson

  1. A 4-month-old girl is referred to you because of a murmur. She has a history of jaundice that is present on examination and for which she is scheduled to see a gastroenterologist. She is acyanotic with a 2–3/6 systolic ejection murmur. She has prominent facial features including a broad forehead and pointed chin. Her mother has similar features. A defect in which of the following genes would most likely explain her clinical findings?






  2. A 28-year-old woman develops severe rubella infection at 7 and 5/7 weeks gestation. The fetus is at increased risk for which congenital heart disease (CHD)?

A. Complex heterotaxy

B. Ebstein’s anomaly

C. Coarctation of the aorta

D. d-Transposition of the great arteries (d-TGA)

E. Valvar and supravalvar pulmonic stenosis

  3. A 31-year-old primigravid woman drinks three cups of coffee daily. She is otherwise healthy. The fetus/infant is at increased risk for which CHD?

A. Tetralogy of Fallot (TOF)

B. Tricuspid atresia

C. Patent foramen ovale

D. Secundum atrial septal defect

E. None

  4. Which of the following defects is most likely to occur in a newborn whose mother had phenylketonuria?

A. Ebstein’s anomaly

B. Tricuspid atresia

C. Coarctation of the aorta

D. Anomalous pulmonary venous return

E. Right aortic arch

  5. You are asked to evaluate a 2-year-old boy for a cardiac murmur. You note that the child, for a 2-year old, is quite friendly, has stellate irises, a long philtrum, depressed nasal bridge, prominent lower lip, and enamel hypoplasia. There is a 3/6 systolic ejection murmur and no click. Which of the following deletions is most likely in this patient?

A. 18q

B. 22p

C. 8p23

D. 7q11.23

E. 22q11

  6. A 4-month-old male develops tachypnea and poor feeding. On examination, the blood pressure in the right arm is 110/60, in the left arm 105/60, and in the right leg 108/60. An echocardiogram demonstrates increased LV wall thickness, mild supravalvar aortic stenosis, and mild supravalvar pulmonary stenosis but normal aortic and pulmonary valves. The LV EF is 20% with evidence of regional wall motion abnormalities. An electrocardiogram is reported to show an acute anterior wall myocardial infarction. Which of the following is the most likely diagnosis in this patient?

A. Velo-cardio-facial syndrome

B. Down syndrome

C. Williams syndrome

D. Rheumatic heart disease

E. Coarctation of the aorta

  7. You are consulted to assess a small-for-gestational-age newborn with a heart murmur. The physical dysmorphic features include microcephaly, microphthalmia, short palpebral fissures, micrognathia, a prominent occiput, short sternum, and small nipples. The hands are clinched with overlapping fingers, and the feet have a convex shape. Which of the following statements is correct regarding this clinical scenario?

A. Trisomy 13 is the most likely clinical diagnosis

B. Associated CHDs occur in ~50% of patients

C. Ventricular septal defect (VSD) and polyvalvular dysplasia are the most common CHDs in this disorder

D. Most patients survive well into the second decade of life without surgery

E. If corrective cardiac surgery is performed successfully, the risk of death is decreased 10-fold

  8. An infant presents in the newborn nursery with feeding difficulty and is noted to have cleft palate, hypocalcemia, and lymphopenia. FISH testing is positive for a 22q11 deletion. Among the following, what is his echocardiogram most likely to demonstrate?

A. Pulmonary atresia + VSD

B. Pulmonary atresia + IVS

C. Interruption of aortic arch between the left common carotid and left subclavian artery

D. Interruption of aortic arch just beyond the left subclavian artery

E. Interruption of aortic arch between the innominate artery and the left carotid artery

  9. You are seeing a female patient for a chief complaint of dyspnea with exertion. You note in her medical chart that she has a history of a large secundum ASD that apparently went unrepaired. She last saw a physician at age 16 years, where the defect was noted to be 18 mm by echocardiography. The patient is now 31 years old. She has not had any cardiovascular interventions in the interim. You listen and fail to appreciate a widely split S2. In fact, you think the split is narrow and P2 is loud. There is a very short systolic murmur over the LUSB. There is no diastolic murmur. What is the most likely cause of the physical findings?

A. Spontaneous closure of the defect

B. Severe mitral valve regurgitation

C. Nonsustained ventricular tachycardia

D. Left ventricular diastolic dysfunction

E. Significant pulmonary hypertension

 10. For the above patient, you repeat an echocardiogram that confirms your suspicion. What is your recommendation to the patient?

A. Dismiss from follow-up

B. Begin propranolol immediately

C. Start IV epoprostenol

D. Cardiac catheterization with pulmonary vascular reactivity testing

E. Counsel that there is little to do at this point, as she is past the point of medical benefit.

 11. In a patient with typical auscultatory findings of an ASD and a P-wave axis of <30 degrees on the electrocardiogram, one should think immediately of which of the following?

A. Unroofed coronary sinus

B. Sinus venosus defect

C. Secundum ASD

D. Primum ASD

E. Patent foramen ovale

 12. Which of the following papillary muscle arrangements are seen most commonly with complete atrioventricular canal defect?

A. The papillary muscles are closer together, the anterior muscle is closer to the septum than normal, and the posterior muscle is farther from the septum than normal

B. The papillary muscles are closer together, the anterior muscle is farther from the septum than normal, and the posterior muscle is closer to the septum than normal

C. The papillary muscles are closer together and positioned clockwise from their normal location

D. The papillary muscles are farther apart, the anterior muscle is closer to the septum than normal, and the posterior muscle is farther from the septum than normal

E. The papillary muscles are farther apart, the anterior muscle is farther from the septum than normal, and the posterior muscle is closer to the septum than normal

 13. A 17-year-old male who underwent complete repair of a partial AVSD at 15 months of age presents with progressive shortness of breath. He has a 3/6 holosystolic murmur that is loudest over the apex and is less prominent with Valsalva. Chest x-ray reveals mild cardiomegaly and mildly increased pulmonary vascularity. Which of the following is the most likely cause of these symptoms?

A. Mitral regurgitation

B. Primary pulmonary hypertension

C. LVOT obstruction

D. Mitral stenosis

E. Pulmonary valve stenosis

 14. Which of the following is true regarding LVOT obstruction in patients with AVSDs?

A. Obstruction may be due to displacement of the left AV valve annulus, resulting in shortening and narrowing of the LVOT

B. Nearly 30% of patients with AVSDs will require reoperation for LVOT obstruction

C. Progressive LVOT obstruction is more common in patients with two AV valve orifices

D. Pre-operative LVOT obstruction is often progressive, while post-operative obstruction is frequently static

E. LVOT obstruction is the most common indication for re-operation after partial AVSD repair

 15. An 18-month-old boy undergoes operative repair of a moderate-sized ASD and moderate-sized mid-muscular VSD. His preoperative chest x-ray revealed borderline cardiomegaly and an ECG at the same time was normal. He remains intubated on post-op day 2, at which time you note a new finding of a fixed split S2 with no murmur. Which of the following is the most likely reason for your findings?

A. Residual ASD

B. Residual VSD

C. Post-operative decrease in pulmonary artery pressure

D. Right bundle branch block

E. Mechanical ventilation

 16. Which of the following statements is true regarding VSDs?

A. Flow across large (unrestrictive) VSDs is limited primarily by the size of the defect

B. Frequently, supracristal defects are partially or completely occluded by redundant tricuspid valve tissue

C. Prominent S2 splitting is occasionally heard with small VSDs

D. After VSD repair, the LV mass decreases more prominent than LVEDV

E. Patients who develop Eisenmenger physiology typically first manifest cyanosis after age of 5 years.

 17. You are seeing a 19-year-old female whom you diagnosed at age 6 months with a moderate-sized, isolated perimembranous VSD with outlet extension. The patient was then lost to cardiology follow-up. The patient presents for evaluation of a murmur that was noted during her required physical for her new job. She is asymptomatic and plays golf 2 to 3 times per week. On examination, she is acyanotic. You note that systole is quiet, but there is a grade III/IV high-pitched decrescendo diastolic murmur at the left sternal border. What is the most likely explanation for the murmur?

A. Prolapse of left aortic cusp has closed the VSD, and the aortic valve is insufficient

B. Prolapse of the right aortic cusp has closed the VSD, and the aortic valve is insufficient

C. Prolapse of the septal leaflet of the TV has closed the VSD, and the tricuspid valve is insufficient

D. RV and LV pressures have equalized, and new PR has developed

E. LA and LV volumes have increased secondary to unrestricted L-R shunting with secondary mitral valve insufficiency

 18. What is the relationship of the bundle of His to an inlet VSD?

A. The bundle passes posterior-inferiorly to the defect

B. The bundle passes anterior-superiorly to the defect

C. The bundle courses caudally around the defect

D. The bundle courses through the right AV groove

E. The bundle passes laterally to the defect through the left ventricle

 19. A 28-week preemie develops persistent abdominal distention, increasing residuals before feedings, blood in the stools, and decreasing bowel sounds. Abdominal x-ray reveals evidence of intramural air in the right lower quadrant. The patient has bounding pulses, and an echocardiogram confirms the presence of a moderate PDA with at least a moderate left-to-right shunt. What is the best next step in management?

A. Referral to surgery for immediate surgical closure

B. Percutaneous closure of PDA with occluding coil

C. Trial of indomethacin

D. Trial of ibuprofen

E. Do nothing right now

 20. You see an 8-year-old child from Venezuela who presents for evaluation of a murmur. As an infant he had poor feeding, irritability, and tachypnea. Weight gain was slow. The symptoms gradually resolved after age 3 to 4 months, and he has grown steadily along the third percentile since then. He tires more easily than his peers. He has progressive myalgias, arthralgias, headache, and general malaise. Fever is relapsing and low-grade, and his parents report marked diminution in appetite.

On examination, peripheral pulses are full and bounding. The precordium is hyperdynamic, and there is a thrusting apical impulse. A systolic thrill is palpable at the upper left sternal border. S1 and S2 are difficult to hear because they are masked by a loud continuous murmur. The murmur is intense and is heard throughout the precordium as well as posteriorly. It has a harsh quality with low-frequency components, and eddy sounds that vary from beat to beat give it a machinery quality. A third heart sound is heard at the apex. Blood cultures are positive for Streptococcus viridans. His CXR is shown in Figure 2.1.

Figure 2.1.

What can you say about endocarditis in the setting of a PDA?

A.Vegetation is likely, and it will be seen on the pulmonary valve atresia (PA) end of the ductus arteriosus

B. Vegetation is likely, and it will be seen on the aortic end of the ductus

C. Vegetation is unlikely, but if present would be seen on the PA end of PDA

D. Vegetation is likely, and location is 50/50 on the PA end versus the aortic end

E. Vegetation is unlikely, but would be seen on the aortic end of the duct

 21. Which of the following events is most responsible for early, functional closure of the ductus arteriosus?

A. Hemorrhage and necrosis in the subintimal region

B. Medial smooth muscle cell migration in the wall of the ductus

C. Equalization of pulmonary and systemic vascular resistance

D. Infolding of the endothelium

E. Thinning of the intimal layer

 22. What is the theoretical benefit of ibuprofen over indomethacin for closure of PDA in premature infants?

A. Decreased risk of intraventricular hemorrhage

B. Decreased risk of pulmonary hypertension

C. Decreased risk of GI bleeding

D. Greater rate of ductal closure

E. Less effect on cerebral blood flow

 23. A 2-week-old infant is found to have anomalous left coronary artery from the pulmonary artery (ALCAPA). Surgical correction is planned. What preoperative comorbidity has been found to be a risk factor for mortality and for late re-operation?

A. Mitral insufficiency

B. Tricuspid insufficiency

C. Aortic valve insufficiency

D. Pulmonary valve insufficiency

E. Patent foramen ovale

 24. You examine a 17-year-old male with a 2-year history of progressive dyspnea on exertion and 2 months of orthopnea. Vital signs: pulse 80, BP 118/44, respiratory rate 24. Physical examination reveals a lift along the left sternal border and a continuous murmur with maximal intensity in the third to fourth intercostal space near the right sternal edge. On the basis of the available information, of the following diagnoses, which is most likely?

A. Sinus of Valsalva fistula from the aorta to the right atrium

B. Sinus of Valsalva fistula from the aorta to the left atrium


D. Patent ductus arteriosus

E. Severe isolated aortic regurgitation

 25. A 3-week-old infant has had several episodes of acute onset of agitation and crying. During these episodes, the baby is inconsolable. On examination, there is a high-frequency systolic murmur audible at the apex with radiation to the left axilla. Which of the following coronary artery anomalies most likely would be responsible for these symptoms?

A. Anomalous origin of right coronary artery from left sinus of Valsalva

B. Anomalous origin of left main coronary artery from right sinus of Valsalva

C. Anomalous origin of left coronary artery from the pulmonary artery

D. Anomalous origin of left anterior descending artery from the right main coronary artery

E. Origin of left circumflex coronary artery from right main coronary artery

 26. Which of the following is true regarding aneurysms of the sinus of Valsalva?

A. The most common location is the noncoronary sinus

B. Men are as likely as women to develop a coronary sinus aneurysm

C. Concomitant VSD is seen up to 50% of the time

D. The most common site of rupture is into the left atrium

E. Most VSDs seen with coronary sinus aneurysms are paramembranous

 27. A neonate presents at birth with high-output cardiac failure secondary a cerebral arteriovenous malformation (AVM). If left untreated, what is the risk of mortality during the first week of life?

A. <10%

B. 15%

C. 30%

D. 50%

E. 90%

 28. Which of the following is true regarding pulmonary AVMs and hereditary hemorrhagic telangiectasia (HHT)?

A. Pulmonary AVMs in the setting of HHT tend to shrink as the patient grows older

B. In patients with pulmonary AVMs, cardiac output typically is twice that of normal patients

C.If there are multiple pulmonary AVMs, there is a >80% chance of the patient having HHT

D. Pulmonary AVMs have a different morphology in patients with and without HHT

E. Pulmonary AVMs are a rare cause of mortality in HHT

 29. Which of the following statements is correct regarding transcatheter embolization of pulmonary AVMs?

A. To avoid device embolization, liquid adhesive is more effective than coil device closure

B. Embolization effectively prevent strokes and transient ischemic attacks, but not brain abscesses

C. Embolization effectively prevents brain abscess but does not prevent strokes

D. The goals of therapy are to occlude afferent arteries <3 mm in diameter and to decrease systemic arterial oxygen tension to <50 mm Hg

E. Embolization provides persistent relief of desaturation but not of orthodeoxia

 30. Which of the following measurements has the best potential to distinguish a large AVM from a large PDA in a young infant?

A. Pulse pressure as determined by sphygmomanometry

B. Cardiothoracic ratio on plain chest x-ray

C. Systemic vein oxygen saturation measurements obtained during cardiac catheterization

D. QRS axis on electrocardiogram

E. Liver span by physical examination

 31. An 11-year-old boy is evaluated for swallowing difficulty and moderate exercise intolerance. A barium esophagram shows evidence of anterior indentation, and pulmonary function testing shows evidence of obstruction. What is the most likely diagnosis?

A. Retroesophageal left subclavian artery

B. Pulmonary artery sling

C. Tracheo-esophageal fistula

D. Innominate artery compression of the trachea

E. Retroesophageal fistula of Phillips

 32. A CT scan is done to assess a neck mass in a 3-year-old patient. This patient has no trouble swallowing and has no history of respiratory problems. The scan incidentally showed a right aortic arch with mirror image branching. What additional testing is warranted?

A. Barium swallow

B. Echocardiography

C. Bronchoscopy

D. Surgical referral

E. No further action needed

 33. Which of the following typically results in a vascular ring?

A. Right aortic arch with retroesophageal innominate artery, left patent ductus arteriosus

B. Right aortic arch, retroesophageal left subclavian artery, no patent ductus arteriosus

C. Right aortic arch with mirror-image branching, left patent ductus arteriosus

D. Left aortic arch with cervical origin of right subclavian artery

E. Left aortic arch with retroesophageal right subclavian artery

 34. An infant presents in acute cardiovascular collapse on day 3 of life. Physical examination reveals absence of all limb pulses with strong carotid pulses bilaterally. Echocardiogram is most likely to reveal which of the following?

A. Critical aortic stenosis

B. Interruption of the aortic arch, type A, with anomalous subclavian artery

C. Interruption type B

D. Interruption type B with anomalous subclavian artery

E. Right aortic arch with retroesophageal diverticulum of Kommerell

 35. A 5-month-old girl presents with stridor and wheezing since birth. She has been treated with albuterol and inhaled steroids without any improvement. Her parents have noticed that she has been coughing and gagging since starting baby foods 2 weeks prior. Which of the following diagnoses is most likely?

A. Right aortic arch with retroesophageal diverticulum of Kommerell

B. Left aortic arch with retroesophageal diverticulum of Kommerell

C. Right aortic arch with retroesophageal left subclavian artery

D. Left aortic arch with retroesophageal right subclavian artery

E. Right aortic arch with retroesophageal innominate artery

 36. Which of the following statements is true regarding anomalies of pulmonary venous return?

A. An untreated infant born with total anomalous pulmonary venous connection (TAPVC) has a 50% chance of surviving until the age of 1 year

B. The cardiothymic silhouette tends to be shifted leftward in Scimitar syndrome

C. Patients with cor triatriatum have enlargement of the right atrium and right ventricle

D.Normal p-wave size (<2.5 mm) on ECG effectively rules out cor triatriatum

E. Ventricular arrhythmias are common following TAPVC repair

 37. A 3-year-old asymptomatic boy has a 2/6 systolic ejection murmur at the left upper sternal border and fixed splitting of S2. An echocardiogram reveals a sinus venosus ASD. This defect results from which of the following?

A. Deficiency of the septum primum

B. Deficiency of the septum secundum

C. Excessive resorption of the septum primum

D. Anomalous insertion of the superior pulmonary vein

E. Deficiency of the common wall of the superior vena cava and the pulmonary vein

 38. What is the catheter course in Figure 2.2.?

Figure 2.2.

A. Aorta → right aortic arch → innominate artery → BT shunt → RPA

B. Aorta → right aortic arch → right sinus of Valsalva

C. Scimitar vein → right SVC → innominate vein → left SVC → coronary sinus

D. IVC → right atrium → SVC → innominate vein → left SVC → coronary sinus

E. IVC → right atrium → SVC → innominate vein → vertical vein → anomalous pulmonary venous confluence

 39. A newborn is diagnosed with infradiaphragmatic TAPVC to the portal vein. Echocardiography demonstrates high-velocity, continuous, nonphasic venous flow in the anomalous vein. PGE1 has been started. The cardiorespiratory and metabolic states have been optimized. What is the best immediate plan of action?

A. Supportive therapy for 24 to 48 hours to allow PA pressures to fall before operation

B. Bedside balloon atrial septostomy

C. Cardiac catheterization to determine pulmonary vascular resistance (PVR) and to perform blade atrial septostomy if needed

D. Balloon dilation +/− stent placement in anomalous pulmonary vein

E. Immediate corrective surgery

 40. A 19-year-old female presents with a several month history of worsening breathlessness. Past medical history is significant for five episodes of pneumonia over her lifetime. Chronic medications include inhaled fluticasone, budesonide, and montelukast. She carries a rescue inhaler of albuterol. Physical examination reveals a RV heave, loud P2, and pulmonary systolic ejection click. There is a soft, blowing systolic murmur along the left sternal border. Echocardiography reveals the following (see Fig 2.3.):

Figure 2.3.

What is the most correct statement about this condition?

A. Surgical correction is universally futile

B. Medical management offers a better chance of 20-year survival than operative correction

C. Peri-operative risk is low

D. In patients who survive operative correction, prognosis is excellent

E. Atrial fibrillation is common

 41. Which of the following is correct regarding anomalous drainage of the left pulmonary veins to the left innominate vein (LIV)?

A. The left lung drains typically by a left SVC

B. A primum ASD is common

C. The vertical vein represents a persistent embryological connection between the splanchnic plexus of the lung buds and the cardinal veins

D. This is a normal variant and found in 0.5% of the general population

E. This condition has never been described

 42. A 3-year-old child has complex single ventricle, bilateral superior vena cava, and interrupted IVC with azygous continuation to the right SVC. At operation, he has construction of bilateral bidirectional superior vena caval-pulmonary anastomoses. Two months postoperatively his systemic arterial blood oxygen saturation is 87%, and he is doing well. Six months postoperatively his saturation is 82%, and he is doing well. Two years postoperatively his saturation is 75%, and he is a bit more fatigued. Which of the following is/are a contributing factor to his progressive desaturation unique to the operation he had?

A. Increased coronary sinus drainage

B. Increased pulmonary arteriolar resistance

C. Erythrocytosis

D. Pulmonary AV fistulae

E. Decreased chest wall compliance

 43. An 8-year-old female with palpitations has an echocardiogram that demonstrates an outpouching originating in the coronary sinus that has a distinct neck and extends behind the LV. What is the most likely source of her palpitations?

A. RVOT-origin ventricular tachycardia

B. Accessory pathway-mediated SVT

C. AV nodal reentry tachycardia

D. Torsades de pointes

E. Brugada syndrome

 44. A 14-day-old infant presents with irritability. He has been eating poorly due to tachypnea (RR = 80s) and he is 15% below his birthweight of 3216 g. Physical examination reveals tachypnea and a loud systolic murmur over his entire precordium. There is a soft low-pitched diastolic murmur at the apex. Distal pulses are slightly diminished. An ABG demonstrates pH = 7.27, pCO2 = 31, HCO3 =16 on room air. Echocardiogram reveals tricuspid atresia, d-TGA, and a moderately restrictive VSD. His aortic arch is moderately hypoplastic, though there is no evidence of a coarctation. Of the following procedures, what is the best initial surgical palliation option?

A.Modified Blalock–Taussig (BT) shunt only

B. PA banding only

C. Bidirectional cavopulmonary anastomosis

D. Anastomosis between MPA and ascending aorta [Damus–Kaye–Stansel (DKS)]

E. VSD closure + patch enlargement of LVOT (modified Konno)

 45. Which of the following features would help distinguish Uhl anomaly from Ebstein’s anomaly?

A. The presence of significant cyanosis on physical exam

B. Large P-waves and diminished right ventricular voltages on ECG

C. Very thin, dysfunctional RV on echocardiography

D. Similar pressure wave contours in the RA, RV, and PA during cardiac catheterization

E. Ventricular endocardial potentials recorded past the expected anatomic tricuspid valve annulus during electrophysiologic assessment

 46. An 11-year-old male with a history of pulmonary stenosis presents for evaluation. His blood pressure at rest is 100/70 mm Hg. Echocardiography reveals normal inspiratory collapse of his IVC. The following Doppler-derived velocities are obtained (at rest):

Tricuspid regurgitation (CW) = 3.5 m/s

Infundibulum (PW) = 2 m/s

RVOT (CW) = 4 m/s

Assume RA pressure is 6 mm Hg. Using traditionally accepted Doppler-derived criteria to determine severity, what degree of pulmonary stenosis is present in this patient?

A. Trivial

B. Mild

C. Moderate

D. Severe

E. Not enough information provided

The following clinical scenario pertains to the next two questions:

A 1-day-old term newborn is admitted to the NICU with cyanosis and a murmur. He is diagnosed with critical pulmonary stenosis and a moderate PDA. Percutaneous pulmonary valvotomy is performed. Cardiac hemodynamics obtained during the catheterization are shown in Table 2.1

Table 2.1 Cardiac Hemodynamics Obtained during Catheterization

That night, the baby continues to have low oxygen saturations in the mid-80s despite being mechanically ventilated and on PGE1. On examination, there is a grade 4/6 late-peaking harsh systolic murmur at the left upper sternal border, which is increased in intensity from his admission exam, and a new, soft diastolic murmur. Blood pressure is 52/24. Blood gas reveals a base deficit of −2.

 47. Which of the following would be the next best step?

A. Urgent repeat percutaneous valvotomy

B. Urgent open pulmonary valvotomy

C. STAT echocardiogram

D. Increase the PGE dosage

E. Continued close observation

 48. Which of the following is the most likely underlying cause of his desaturation?

A. Pulmonary valve stenosis

B. Infundibular obstruction

C. Right to left shunting across the PDA

D. Undiagnosed VSD

E. Severe pulmonary regurgitation

 49. You are performing an echocardiogram on an asymptomatic 4-month-old girl referred for a murmur. You note discrete stenosis of the proximal LPA, measuring 2 mm. The distal LPA is 6 mm. The RPA is 8 mm. The pulmonary valve and MPA are normal. There are no atrial or VSDs. Peak velocity across the LPA stenosis is 2.0 m/s. RVSP is estimated to be 25 mm Hg. There is mild RV hypertrophy. Which of the following statements is true?

A. The degree of LPA stenosis is mild

B. RVSP is likely underestimated considering the degree of LPA narrowing

C. Invasive pressure measurements would be likely to show an MPA to LPA gradient that is much higher than that estimated by Doppler flow velocity.

D. If angioplasty is performed, a 6- to 8-mm balloon should be used

E. The risk of re-stenosis after angioplasty is approximately 3% to 5%

 50. A newborn infant is cyanotic, and echocardiography reveals pulmonary artery atresia with intact ventricular septum. The right ventricle is bipartite and quite small. The baby is receiving PGE-1. Which of the following is the next step in the management of this patient?

A. Balloon atrial septostomy

B. Surgical outflow tract reconstruction

C. Cardiac catheterization and angiography

D. Cardiac CT scan

E. Cardiac MRI

 51. Which of the following anatomical substrates most likely predicts a successful decompression of the RV using radiofrequency ablation and balloon pulmonary valvotomy in patients with pulmonary atresia with intact ventricular septum?

A. Unipartite RV

B. Muscular pulmonary atresia

C. RV-dependent coronary circulation

D. Severe tricuspid stenosis

E.Tricuspid valve Z score = −2

 52. The angiogram demonstrated in Figure 2.4. is performed in a 9-month-old boy with pulmonary atresia and intact ventricular septum.

Figure 2.4.

Which of the following operations is best for this patient?

A. Bidirectional Glenn alone

B. RV to PA conduit with a bidirectional Glenn

C. RV to PA conduit alone

D. Pulmonary valvotomy alone

E. Pulmonary valvotomy with a bidirectional Glenn

 53. For the above patient, a takedown of his BT shunt is performed along with the placement of an RV to PA conduit. That evening he develops congestive heart failure (CHF). Which of the following ECG findings would you most likely see in this patient at this time?

A. Complete heart block

B. Left bundle branch block

C. ST segment elevation in I, aVL

D. ST segment elevation in II, III, aVF

E. Increased voltages in V1, V2, V3

 54. You are seeing a 4-day-old infant with cyanosis. Echocardiography reveals PA with intact ventricular septum. There is significant subpulmonary (infundibular) obstruction. The RV appears tripartite but severely hypoplastic. By echocardiography, there is no evidence of RV-dependent coronaries. You are planning eventual biventricular repair beginning with a surgical pulmonary valvuloplasty and RVOT patch enlargement. What is the next step in surgical planning?

A. Go to surgery without further testing

B. Cardiac catheterization with hemodynamic study only

C. Catheterization with hemodynamic assessment and RV angiography

D. MRI with RV volume quantification

E. Biopsy of myocardium to evaluate for spongy myocardium and/or endocardial sclerosis

 55. A newborn is found to have cyanosis shortly after birth. A holosystolic murmur is heard and PGE-1 is started. An echocardiogram is performed (Fig 2.5.):

Figure 2.5.

Color flow Doppler fails to show antegrade flow in the MPA. The ventricular septum is intact. Which of the following is true regarding neonates with this form of congenital heart disease?

A. Coronary artery perfusion is wholly RV dependent in about 45% of cases

B. Pulmonary blood flow most often is supplied by aortopulmonary collaterals

C. This form of congenital heart disease is more common in males

D. By definition, the right ventricle is always bipartite

E. A main pulmonary trunk almost always is present

 56. A 3-year-old boy has pulmonary atresia with VSD. He has a history of hypoplastic central pulmonary arteries and multiple major aortopulmonary collateral arteries (MAPCAs), with multiple surgeries including a central shunt as well as right and left unifocalization surgeries. He is admitted for complete repair. Following reconstruction of the central confluence, placement of an RV-PA conduit, takedown of two MAPCAs, and VSD closure, he does not tolerate coming off bypass. His blood pressure is 84/60 mm Hg on multiple pressors. His saturations are 87% on 100% oxygen. His RV pressure is 69/15 mm Hg. TEE demonstrates patency of the conduit. What is the best course of action?

A. Placement of ECMO until hemodynamics improve

B. Reinstitution of bypass, takedown of RV-PA conduit and placement of a central shunt

C. Replacement of the RV-PA conduit with a larger conduit

D. Treatment with nitric oxide to improve PVR

E. Re-opening the VSD

 57. An 11-year-old male with history of PA-VSD is status post a BT shunt on day of 10 and is also status post multiple unifocalization procedures. He is in the operating room for a complete repair. The surgeon has completed the operation. You are performing an echocardiogram. You note that the VSD is now closed and the RV-to-PA conduit has laminar flow by color Doppler. The estimated RV systolic pressure is 80 mm Hg. Biventricular function appears reasonable. You see that the radial arterial pressure tracing is 100/50 mm Hg. You advise the surgeon to:

A. Do nothing further

B. Replace the conduit with a smaller one

C. Replace the conduit with a larger one

D. Re-open the VSD

E. Place a BT shunt in addition to what has been done already

 58. A 4-month-old infant with pulmonary atresia and VSD undergoes complete repair, including unifocalization, RV-PA conduit and closure of the VSD. Before sternal closure in the operating room she becomes hypotensive. Systemic arterial pressure is 65/45 mm Hg. She is edematous with hepatomegaly. TEE reveals RV hypertrophy and moderately decreased biventricular systolic function. She has mild/moderate tricuspid regurgitation with a velocity of 3.5 m/s. Which of the following interventions is most urgent at this time?

A. Milrinone

B. Leave the chest open and return to the ICU

C. Re-open the VSD

D. Placement of a bidirectional Glenn


 59. A neonate with pulmonary atresia-VSD undergoes heart catheterization. The angiogram in Figure 2.6. is obtained.

Figure 2.6.

What is the primary source of pulmonary blood flow in this patient?

A. Ascending aorta

B. Descending aorta

C. Patent ductus arteriosus

D. BT shunt

E. Right subclavian artery

 60. In a patient with pulmonary atresia and VSD, where does the proximal His bundle run relative to the VSD?

A. Along the posteroinferior rim of the VSD on the left ventricular side

B. Along the posterosuperior rim of the VSD on the right ventricular side

C. Along the anterolateral rim of the VSD on the left ventricular side

D. Along the anteromedial rim of the VSD on the right ventricular side

E. Not enough information provided

 61. A 12-year-old patient with unrepaired TOF presents to clinic for pre-operative evaluation before a planned complete surgical repair. Physical examination reveals severe cyanosis with marked clubbing of the fingers. Cardiac examination reveals normal S1, single S2, with a grade 2/6 systolic ejection murmur at the left upper sternal border. There is also a soft continuous murmur over interscapular area. Echocardiography demonstrates severe right ventricular hypertrophy, anterocephalad malalignment of the conal septum, and a large perimembranous VSD with an overriding aorta. Owing to difficult visualization of the pulmonary artery anatomy, a cardiac catheterization is planned for the next morning at 8:30 am. Which of the following should be done to decrease the chance of a hypercyanotic spell in the morning?

A. Make the patient NPO after midnight and start an IV at 7:00 am

B. Use a general anesthesia inducing agent that decreases systemic vascular resistance more than PVR

C. Make the patient NPO after midnight, perform phlebotomy to decrease Hgb to < 14 before starting the IV

D. Start an esmolol drip as soon as the procedure starts

E. Make the patient NPO after midnight, start IV fluid when NPO starts, and use a topical anesthetic such as EMLA before attempting vascular access

 62. A 17-year-old female with a history of TOF with left aortic arch presents with progressive dyspnea on exertion. She describes a history of multiple operations including an RV-PA conduit revision 2 years ago. As part of her evaluation, cardiac catheterization is performed, from whence the data in Table 2.2 are obtained.

Table 2.2 Cardiac Catheterization Data

On the basis of the information, which of the following is most likely to be true?

A. She would benefit from sildenafil

B. She would benefit from closure of her left to right shunt

C. She should have a conduit revision

D. Her symptoms are primarily related to diastolic dysfunction

E. She has a history of a Waterston shunt

 63. A 6-day-old male infant presents with cyanosis and tachypnea. An echocardiogram confirms the diagnosis of TOF with absent pulmonary valve. He is in moderate respiratory distress. His heart rate is 190 bpm, respiratory rate is 55/minute, and his ABG shows PaO2=67, PaCO2=38, pH=7.41, Bicarb=20, and an oxygen saturation of 84%. What should be done next in an attempt to alleviate his respiratory distress?

A. Inhaled albuterol

B. Intubation and mechanical ventilation

C. IV solumedrol

D. Emergent surgical repair of his congenital heart disease

E. Placement in prone position

 64. A 3-day-old male infant presents to the emergency department with cyanosis. He was diagnosed prenatally with TOF. He was born at home at 35 and 4/7 weeks of gestation. Over the first 48 hours of life, his color was good and he was nursing effectively. However, over the past 2 to 4 hours, he appeared progressively blue. At the time of presentation, his saturations are 60% to 65%, and he appears dusky. He is becoming more dusky. On examination, he has no appreciable murmur. A UVC has been placed. What is the best next step in management?

A. Echocardiogram to ascertain whether his prenatal echo had the correct diagnosis.

B. Hyperoxia test to try and ascertain if he has a pulmonary component of his cyanosis.

C. Emergent surgical repair

D. IV prostaglandin

E. IV morphine to encourage left-to-right shunting across his VSD

 65. A 6-day-old male infant presents with a murmur and cyanosis. His saturation is 69% and his cuff blood pressure is 65/37. An echocardiogram reveals the following: TOF; severe infundibular obstruction (narrowest diameter 2 to 3 mm), a bicuspid pulmonary valve measuring ~5 mm at the annulus; almost entirely right-to-left shunting at the VSD with a peak Doppler VSD velocity of 2.5 m/s; accessory tricuspid valve tissue prolapsing into the VSD during systole; and a tricuspid regurgitation velocity of 4.5 m/s. He has an enlarged coronary sinus draining a left SVC. He has a large conal branch from his right coronary artery. Among the findings below, which feature is the most unusual in patients with TOF?

A. Large conal branch

B. Left SVC

C. Restrictive VSD

D. Pulmonary hypertension

E. Predominant right-to-left shunting through the VSD

 66. A 3-week-old infant presents with tachypnea and poor oral feeding. Her prenatal screening ultrasound was suggestive of truncus arteriosus, but she never underwent a formal fetal echocardiogram. Today, vital signs are as follows: P = 140, BP = 80/35 mm Hg, RR = 60, O2 saturation = 93% (room air). Cardiac examination reveals an active precordium, normal S1, single S2 with systolic ejection click, and grade 2/6 systolic murmur at left-mid sternal border. When the baby is quiet, a soft continuous murmur becomes apparent in the back. Which of the following statements is correct regarding this scenario?

A. The continuous murmur strongly suggests a diagnosis of truncus arteriosus

B. The continuous murmur is the result of truncal valve stenosis and regurgitation

C. Physical examination findings suggest a diagnosis of pulmonary atresia with VSD more than truncus arteriosus

D. Physical examination findings suggest a diagnosis of pulmonary atresia with intact ventricular septum more than truncus arteriosus

E. The presence of an apical diastolic murmur in this patient suggests anatomical mitral valve stenosis

 67. Which of the following statements is correct regarding coronary artery anatomy in truncus arteriosus?

A. The posterior descending coronary artery arises from the left circumflex artery (left coronary dominance) in <3% of patients

B. The left anterior descending artery is relatively large and displaced rightward

C. The conus branch of the right coronary artery is usually small

D. The left coronary artery arises from the pulmonary trunk in ~40% of patients

E. Left coronary usually arises from the left posterolateral truncal surface

 68. An 8-year-old female from Mongolia presents for surgical consideration of her cyanotic congenital heart disease. Echocardiogram reveals type I truncus arteriosus with a large VSD. The atrial septum is intact and there is trivial TR. Heart catheterization is performed, whereupon the data in Table 2.3 are obtained:

Table 2.3 Heart Catheterization Data

Her systemic cardiac index = 4.0 L/min/m2. Which of the following is true regarding this patient?

A. No corrective intervention is indicated (palliation only)

B. She should undergo closure of her VSD and placement of an RV-PA conduit

C. Decision about whether or not to repair her lesions should be deferred until her hemodynamics are reassessed while she receives 100% oxygen

D. She should be listed for cardiac transplantation

E. She may benefit from balloon angioplasty of her pulmonary arteries

 69. A neonate presents with cyanosis. He is found to have type II truncus arteriosus with a bicuspid truncal valve and right aortic arch. He has a large secundum ASD and a left SVC draining into the coronary sinus. There is moderate RVH with normal biventricular function. Among the findings in this patient, which is most common among patients with truncus arteriosus?

A. Type II truncus

B. Bicuspid truncal valve

C. Interrupted aortic arch (IAA)


E. Left SVC

 70. You are performing an echocardiogram on a cyanotic neonate. You note a large, thickened semilunar valve that is mildly incompetent and appears to originate from both RV and LV with a large outlet VSD. The pulmonary arteries originate separately from the ascending aorta. You also note interruption of the aortic arch. Which of the following is this baby most likely to have?

A. Bicuspid truncal valve

B. Right aortic arch

C. Absent ductus arteriosus

D. Absent left or right pulmonary artery

E. Chromosome 22q11 deletion

 71. A cardiac catheterization is performed on an 18-month-old male with unrepaired truncus arteriosus. He has a moderate ASD with no ductus arteriosus. The data in Table 2.4 are obtained.

Table 2.4 Cardiac Catheterization Data

If pulmonary blood flow is 5.0 on room air and 6.8 on 100% FiO2, what course of treatment is recommended for this patient?

A. Home oxygen therapy with repair in 1 to 2 years

B. Pulmonary artery banding

C. Surgical repair now

D. Listing for heart-lung transplant

E. Home oxygen (palliation only)

 72. You are seeing a new patient in clinic with a history of truncus arteriosus. On auscultation, you hear a split second heart sound at the left sternal border. What is the most likely cause of the splitting of S2?

A. Referred tricuspid valve closure sound

B. Ejection click after truncal valve opening

C. Delayed closure of some of the cusps of the abnormal truncal valve

D. Increased flow across the mitral valve

E. Pulmonary artery ostial stenosis

 73. You diagnose truncus arteriosus in the fetal period. After delivery at 38 weeks through spontaneous vaginal delivery with no complications, you perform confirmatory echocardiography. You are able to visualize the pulmonary arteries. The PAs are widely patent with laminar, increased flow. The PAs arise from a common trunk. The aortic arch is right-sided. The truncal valve is quadricuspid and has moderate-to-severe regurgitation. There are no other complicating factors. You are confident that your imaging windows were sufficient. What is the best treatment plan for this newborn infant?

A. Perform bilateral BT shunts in first week of life, then a bidirectional Glenn at 4 to 6 months, with Fontan completion at 2 years of life

B. Diuretics, digoxin, and afterload reduction for first 2 to 4 months if tolerated. Plan complete repair at 6 months (divide MPA from aorta, aortic valve repair, homograft conduit from RV to MPA)

C. Band the LPA in first 2 weeks of life, then manage medically until 4 to 6 months, when complete surgical repair can be more safely performed

D. Complete repair by 1 month (divide MPA from aorta, aortic valve repair, homograft conduit from RV to MPA)

E. Complete repair within the first 72 hours of life using aortic valve tissue prosthesis (divide MPA from aorta, aortic valve tissue prosthesis, homograft RV-MPA conduit)

 74. In the setting of parachute mitral valve, which of the following papillary muscle arrangements is the most common?

A. Absence of both papillary muscles

B. Absence of the anterolateral papillary muscle

C. Absence of the posteromedial papillary muscle

D. Presence of two separate papillary muscles

E. Presence of two fused papillary muscles

 75. A 1-month-old infant presents with tachypnea and poor feeding. A cardiac murmur is heard and an echocardiogram is performed (Fig. 2.7).

Figure 2-7.

The echo also suggests moderate mitral inflow obstruction (mean gradient = 8 mm Hg), severe MR, and LA and LV enlargement. Which of the following is the most likely diagnosis?

A. Double orifice mitral valve

B. Mitral arcade

C. Supramitral ring

D. Parachute mitral valve

E. Cor triatriatum

 76. A 4-year-old female presents with tachypnea and heart failure and is found to have mitral stenosis. She undergoes a trans-atrial repair of her mitral valve. Attempts to extubate on post op day 2 are unsuccessful. Her examination is significant for a soft holosystolic murmur at the apex, a loud P2 and a liver edge palpable 3 cm below the costal margin. An echocardiogram documents a mitral inflow mean gradient of 5 mm Hg and the pulmonary vein Doppler flow pattern in Figure 2.8.

Figure 2.8.

The RV is moderately dilated with moderately decreased systolic function, which is not significantly changed from her pre-operative echo. Which of the following is the most likely cause for the patient’s symptoms?

A. Pulmonary hypertension

B. Residual mitral stenosis

C. Unrecognized supramitral ring

D. Pulmonary vein stenosis

E. Right coronary infarction

 77. Unlike the cleft in atrioVSDs, which of the following is true about the isolated cleft of the mitral valve?

A. Is more truly a commissure as there is typically a papillary muscle associated with it

B. Causes more severe regurgitation

C. Is associated with both mitral stenosis and regurgitation

D. Is directed anteriorly towards the LVOT

E. Is not associated with atrial or VSDs

 78. A 4-month-old infant is found to have congenital mitral insufficiency without stenosis due to a cleft in the anterior leaflet. By echocardiography, the valve appears repairable. The LVEDD is at the upper limit of normal. The LA has mild-moderate enlargement. LV EF = 60%. CXR reveals a somewhat enlarged cardiac silhouette. ECG is normal for age. Vital signs are normal. What is the best next step in management?

A. Furosemide and captopril

B. Propranolol and verapamil

C. Propranolol and captopril

D. Surgical referral

E. No therapy for now

 79. A 16-year-old female presents for clearance to participate in competitive volleyball. She has a history of vasodepressor-vasovagal syncope following a stressful event at school 2 years prior. Evaluation at that time revealed a normal physical examination and normal ECG. Now, physical examination while supine reveals a systolic click shortly after S1 at the apex. With sitting, you note that the click moves toward S1 and is followed by a I/VI systolic murmur at the apex that ends before systole concludes. These findings prompt an echocardiogram which reveals bileaflet mitral valve prolapse (MVP) with moderate mitral regurgitation, with a left ventricular EF of 52%. She then has a 24-hour ambulatory ECG monitor that shows frequent sustained SVT. Her height-to-weight ratio is 0.44 kg/cm. Along with her MVP, which of her findings would be indication to restrict her from competitive volleyball?

A. Degree of mitral regurgitation

B. Left ventricle ejection fraction

C. History of syncope

D. Ambulatory ECG results

E. Her height-to-weight ratio

 80. An infant is diagnosed with critical aortic stenosis and resultant LV hypoplasia. According to the “Rhodes criteria” and other literature, which of the following echocardiographic criteria would indicate that the patient would benefit more from a Norwood-type palliation as opposed to a two-ventricle repair?

A. LV long axis to heart long axis ratio of 0.9

B.Aortic root diameter of 8 mm (4 cm/m2)

C.Indexed mitral valve area of 8 mm (4 cm/m2)

D.LV mass index of 10 g (50 g/m2)

E. Antegrade flow in the ascending aorta

 81. A 17-year-old female immigrant presents with a 3-month history of progressive dyspnea on exertion. She had a childhood history of rheumatic fever, but she cannot remember the details of her underlying cardiac status except the painful IM antibiotic every month. On examination, she appears comfortable. Palpation on her chest reveals no thrill. Her S1 and S2 appear normal. There is a grade 3/6 harsh systolic murmur audible along the mid-left sternal border down to the apex. There is no diastolic murmur or click. During auscultation, she has a few premature ventricular contractions. The systolic murmur becomes much louder in intensity following the extra beat. What is the most likely etiology of these physical examination findings?

A. Tricuspid valve regurgitation

B. Mitral regurgitation

C. Pulmonary valve stenosis

D. Subaortic stenosis

E. Innocent murmur

 82. Interventional aortic balloon valvuloplasty is indicated in which of the following patients? All patients have bicuspid aortic valves except where indicated, and all have undergone cardiac catheterization.

A. Asymptomatic 2-year-old male with normal growth who has a peak-to-peak gradient of 50 mm Hg

B. Asymptomatic 20-year-old female who is planning to become pregnant and whose peak-to-peak gradient is 40 mm Hg

C. Asymptomatic 18-year-old boy who wants to play American football with a peak-to-peak gradient of 45 mm Hg

D. A 1-day-old newborn with a unicommissural aortic valve who has an LV EF of 45% and a peak-to-peak gradient of 30 mm Hg

E. Asymptomatic 20-year-old male with a normal ECG whose peak-to-peak gradient is 55 mm Hg

 83. Which of the following statements is true regarding diastolic function in children with aortic valve stenosis?

A. The echocardiographically derived ratio of early mitral inflow velocity (E) to early diastolic mitral annular velocity (E’) correlates with LVEDP

B. Measurement of mitral annular systolic velocity (S’) by tissue Doppler imaging (TDI) demonstrates systolic short-axis dysfunction

C. Longitudinally oriented fibers are present primarily in the subepicardial region

D. The subendocardium is remarkably resilient to ischemia

E. Transverse axis dysfunction typically precedes long-axis dysfunction

 84. A 15-year-old male with congenital aortic valve stenosis presents for interval follow-up. He underwent successful balloon dilatation at age 4 years with a reduction in Doppler peak instantaneous gradient from 87 mm Hg to 22 mm Hg. He has been followed annually for the past 10 years without further intervention. BP is normal. By echo, his peak gradient today is 42 mm Hg (mean 26 mm Hg). There is mild LV hypertrophy without mid-cavitary obstruction. He is interested in playing hockey for his high school team. Try-outs start in 8 weeks. His is asymptomatic. What is the best recommendation?

A. Start low-dose lisinopril, then allow participation if BP remains acceptable

B. Balloon dilate the valve, then allow to play after 6 weeks

C. Replace the valve with a homograft, then allow to play

D. Replace the valve with a mechanical valve and prohibit participation

E. Perform an exercise ECG and reassess

 85. You are asked to consult on a term neonate with a murmur. He has a harsh 2–3/6 systolic ejection murmur. He has good distal pulses and perfusion with no increased work of breathing. Echo reveals a thickened bicuspid aortic valve with a velocity across the valve of 3.0 m/s and a PDA. Which of the following is true?

A. Mild congenital subaortic stenosis, as a rule, rapidly progresses in the first few months of life

B. The amount of endomyocardial fibroelastosis (EFE) is independent of the degree of stenosis

C. Significant retrograde diastolic flow in the distal arch from the PDA is consistent with severe stenosis

D. Echo-derived pressure gradient is independent of other hemodynamic variables, such as pre-load and afterload

E. Relative to balloon valvuloplasty, open surgical valvotomy results in a greater degree of aortic regurgitation

 86. A 10-day-old male infant presents to the emergency room with vomiting and respiratory distress. Pregnancy history was uncomplicated, and the infant was delivered vaginally at term. The patient was dismissed from the hospital at day 2 of life. At day 4 of life, the patient began to have some difficulty with feeds. He was slow to feed due to fast breathing. No color changes were noted with feeds. His PO intake and urine output had been decreased over 24 hours before presentation.

Vital signs at the time of presentation are: HR = 169, respiratory rate = 70, BP (right arm) = 90/60 mm Hg, right leg = 70/30. On physical examination, there are no facial dysmorphic features. The skin is mottled and pale. There is a hyperactive RV impulse, normal S1, single S2 with S3 gallop, and a soft systolic murmur at apex. Brachial pulses are normal, but femoral pulses are absent bilaterally. There are bilateral subcostal retraction. The liver is palpated 4 cm below restrictive cardiomyopathy (RCM). Extremities are cool.

ECG and CXR are obtained (Fig. 2.9).

Figure 2.9.

What would be the appropriate next step in management?

A. Perform an echocardiogram to get definite diagnosis

B. IV access and give Lasix

C. IV access and start dobutamine

D. IV access and start PGE1

E. IV access and give sodium bicarbonate

 87. While IV access is being obtained, emergent echocardiography is performed on the baby. Pulsed wave Doppler interrogation of the abdominal aorta is performed (Fig. 2.10).

Figure 2.10.

Which of the following statement is true?

A. The Doppler profile suggests that surgical correction is unlikely to be necessary before 12 months of age

B. A bicuspid aortic valve is unlikely to be associated with this defect

C. Severe aortic regurgitation is likely to be present

D. VSD is commonly associated with this defect

E. Secundum atrial septal defect is the defect responsible for this clinical presentation

 88. A 1-year-old child is referred for a murmur. She is asymptomatic. Her BP in the left arm = 104/56, left leg = 84/50. Echocardiogram confirms isolated coarctation of the aorta. When do you recommend the patient have surgical repair?

A. Age 2 to 3 years

B. Age 6 to 8 years

C. Age 12 to 14 years

D. Only operate if systolic pressure gradient >50 mm Hg

E. Only operate if symptoms develop, such as lower extremity claudication

The following clinical stem is used to answer the next three questions (questions 89 to 91).

A 9-day-old female presents to the ED with respiratory distress. She is pale, irritable, and diaphoretic. RR 80; HR 210; 4-extremity BP: right arm 48/32, left arm 68/34, right leg 47/31, left leg 48/31. Auscultation reveals a gallop rhythm. A grade 2–3/6 murmur is heard at the upper left sternal border, at the base, and in the left interscapular area posteriorly. The murmur is heard throughout systole and disappears in early diastole. Moderate hepatomegaly is noted. She has widely spaced nipples and a webbed neck. She undergoes an echocardiogram.

 89. What is the echocardiogram most likely to reveal?

A. Mitral valve stenosis with moderate MR


C. Isolated large outlet VSD with severe pulmonary valve stenosis

D. Isolated severe coarctation of the aorta

E. Coarctation of the aorta with anomalous aortic arch branching pattern

 90. The above patient undergoes an echocardiogram following initiation of PGE1. The pulsed wave Doppler profile in Figure 2.11. is obtained. What is the most likely explanation for the tracing?

Figure 2.11.

A. Aortic arch is normal

B. Ductus arteriosus is open

C. Cardiac output is extremely low

D. Pulmonary hypertension is present

E. Thrombus is present in the descending aorta

 91. The above patient undergoes genetic testing. What is the most likely result?

A. 45, XO genotype

B.JAG1 gene mutation

C.PTPN11 gene mutation

D.46, XY/47, XYY mosaicism

E.TBX5 gene mutation

 92. A 12-year-old female with who is status post repair (end-end anastomosis) of coarctation of the aorta as a young child now complains of headaches with exercise. A neurological work up including an MRI/MRA of her neck and head are negative. She is noted to have exercise hypertension on a bicycle exercise test. Further cardiology evaluation with an echocardiogram reveals no significant anatomical obstruction of the aorta. Which intervention or next step in evaluation would be beneficial to help relieve her exercise hypertension?

A. Nothing, wait and watch

B. Heart catheterization with possible stent placement as needed

C. CT angiography to further evaluate aorta

D.β-Blocker pharmacotherapy

E. Nephrology consult

 93. A 5-day-old term infant is 2 days status post a Norwood procedure with an RV-PA shunt (Sano) for hypoplastic left heart syndrome. His chest is closed and he is mechanically ventilated. Over the past 6 hours, you have noticed worsening acidosis and increasing hepatic enzymes. Creatinine has increased from 0.4 to 0.8. Urine output has been adequate. His vital signs are: HR 145 BP 60/38 RR 24 (all ventilator-initiated). His Sp02 is 77% on 30% FiO2; hemoglobin is 12 g/dL. Echocardiogram shows patent surgical connections with normal RV function. Which of the following interventions is most likely to improve this patient’s clinical status?

A. Start milrinone

B. Increase inspired oxygen to 50%

C. Start nitric oxide

D. Transfuse 15 mL/kg packed RBCs

E. Increase ventilator rate to 30/min

 94. A neonate is diagnosed with d-TGA with an anterior malalignment VSD and subaortic stenosis. Which of the following is most likely to be concurrently found in this patient?

A. Coarctation of the aorta

B. Peripheral pulmonary stenosis

C. Pulmonary atresia

D. Mitral arcade

E. Ebstein’s anomaly

 95. Which of the following statements is correct regarding pathologic anatomy of complete d-TGA with an intact ventricular septum?

A. There is complete resorption of subaortic conus

B. Ventricular septum is relatively sigmoid in shape rather than straight

C. Functional (dynamic) subpulmonic obstruction from bulging of ventricular septum into LVOT usually occurs immediately after birth

D. Sinus node and AV nodes are typically in their normal locations

E. LV mass usually regresses much faster in d-TGA with IVS compared with d-TGA with VSD

 96. A neonate is found to have d-TGA with VSD and ASD. The VSD is nonrestrictive, but there is severe LVOT obstruction. The patient’s oxygen saturation is 68% on room air. What is the most appropriate initial surgery/procedure for this patient?

A. Jatene arterial switch with Lecompte maneuver

B. Mustard operation

C. BT shunt

D. LVOT balloon arterioplasty

E. PDA stent

 97. A 15-year-old male presents with lightheadedness for the past 2 weeks. He has never fainted. On physical examination, he has a loud second heart sound, normal right parasternal impulse, and no cardiac murmurs. His ECG shows complete AV block, Q-waves in V-1 and no Q waves in V-6. What is the most likely explanation for his A-V dissociation?

A. Maternal lupus erythematosus

B. Q-fever

C. Congenitally corrected transposition of the great arteries (l-TGA)

D. Recent tick bite

E. Myocarditis

 98. Where is the AV node located in patients with congenitally corrected TGA?

A. Along the anterior aspect of the atrioventricular ring, near the atrial septum

B. Along the anterolateral aspect of the atrioventricular ring

C. Along the posterior aspect of the atrioventricular ring, near the coronary sinus

D. Along the posterior aspect of the atrioventricular ring, near the atrial septum

E. Along the posterior aspect of the atrioventricular ring, near the IVC

 99. An echocardiogram is performed on a cyanotic newborn infant in the NICU. It reveals double-outlet right ventricle (DORV) with normally related great arteries, a large doubly committed VSD, severe coarctation of the aorta, moderate subaortic stenosis, and parachute mitral valve with straddling mitral valve. What is the most appropriate initial surgery for this patient?

A. Patch VSD to aorta, repair coarctation

B. Repair coarctation, mitral valve annuloplasty, and chord lengthening

C. Repair coarctation only

D. Norwood palliation with Sano shunt

E. Patch VSD to aorta, repair coarctation, resection of sub-AS

100. What is the surgical procedure of choice for patients with DORV and a subpulmonary VSD without pulmonary stenosis?

A. Pulmonary artery banding

B. Arterial switch operation with patch closure of VSD

C. Systemic to pulmonary shunt

D. Patch closure of the VSD

E. VSD stenting

101. You are called to the ED to evaluate a 6-month-old child with cyanosis. The infant is thin, frail, cyanotic and breathing comfortably. You note oxygen saturations of 75% to 80% on room air, which do not change significantly with supplemental oxygen. His parents state that he has become gradually bluer over the past 4 months. On examination, you appreciate a gallop rhythm with a loud, harsh systolic ejection murmur. On the basis of this initial assessment, of the following diagnoses, which is most likely?

A. DORV with subpulmonic VSD and no pulmonary stenosis

B. DORV with subpulmonic VSD and pulmonary stenosis

C. DORV with subaortic VSD and no pulmonary stenosis

D. DORV with subaortic VSD and pulmonary stenosis

E. DORV with subaortic VSD and suprasystemic pulmonary hypertension

The following clinical stem refers to the next two questions:

You are called to perform an echocardiogram on a 2-day-old neonate with cyanosis. The patient is mildly tachypneic with retractions. Pulse oximetry reveals oxygen saturation of 63% to 65%. Chest x-ray demonstrates normal heart size with increased pulmonary vascular markings. On examination, you appreciate a loud S2 with no significant murmurs.

102. Which of the following is most likely?

A. DORV with subpulmonic VSD and no pulmonary stenosis

B. DORV with subpulmonic VSD and pulmonary stenosis

C. DORV with subaortic VSD and no pulmonary stenosis

D. DORV with subaortic VSD and pulmonary stenosis

E. DORV with subaortic VSD and suprasystemic pulmonary hypertension

103. An echocardiogram is performed and documents DORV Taussig–Bing type, with a nonrestrictive VSD, a large PDA with low-velocity bidirectional shunt, and a tiny PFO. An IV is obtained and prostaglandin is started. The patient’s clinical status does not improve. Which of the following interventions is likely to be of the most immediate benefit?

A. Increase the rate of PGE-1 infusion

B. Start nitric oxide

C. IV furosemide

D. Balloon atrial septostomy

E. Surgical repair in 2 to 3 weeks

The follow stem applies to the next two questions:

A 3-year-old patient presents to your clinic with double-inlet left ventricle (DILV), left-sided hypoplastic subaortic right ventricle, V-A discordance, with a mildly restrictive bulboventricular-foramen-type VSD. She had a pulmonary band placed at 3 months of age and is now status post bidirectional Glenn anastomosis. She is being considered for Fontan palliation.

104. Which of the following of her cardiac catheterization findings are associated with the highest mortality in patients with DILV undergoing Fontan?

A. PVR = 2.5 Woods units

B. Mild left AV-valve regurgitation

C. Patent left SVC

D. Resting subaortic gradient = 45 mm Hg

E. Mild right AV-valve regurgitation

105. What is the most likely cause of the increased subaortic gradient in the preceding patient?

A. History of pulmonary banding

B. History of partial anomalous pulmonary veins

C. History of patent ductus arteriosus

D. History of mild RPA stenosis

E. History of second-degree heart block

106. A term neonate with a harsh systolic murmur at birth is found to have DILV with a hypoplastic subaortic RV, and a restrictive bulboventricular foramen and severe subaortic stenosis. A prostaglandin infusion is started. A subsequent echocardiogram documents a large PDA. Which of the following is the most appropriate initial operation for this child?

A. Enlargement of the VSD

B. Aortopulmonary anastomosis (DKS) with BT shunt

C. Pulmonary artery banding

D. Bidirectional cavopulmonary anastomosis

E. PDA stent placement and banding of the PA’s (hybrid Norwood)

The following stem and angiograms apply to the next two questions:

You are performing a cardiac catheterization on a 2-year-old female with heterotaxy syndrome with atrial and visceral situs ambiguus, asplenia, dextrocardia, complete AV septal defect and DORV with left anterior aorta (Fig. 2.12).

Figure 2.12.

107. What is the course of the venous catheter?

A. Right IJ → SVC → anomalous pulmonary vein → pleural space

B. Right IJ → SVC → MPA → common ventricle → Aorta

C. Right IJ → SVC → common atrium → common ventricle → MPA

D. Right IJ → SVC → common atrium → common ventricle → aorta

E. Right IJ → SVC → azygous vein → IVC → common atrium → left SVC

108. What is the course of the arterial catheter?

A. Femoral artery → descending aorta → arch → BT shunt

B. Femoral artery → descending aorta → left SVC → MPA

C. Femoral artery → descending aorta → Waterston shunt → MPA

D. Femoral artery → descending aorta → Potts shunt → MPA

E. Femoral artery → descending aorta → arch → anomalous pulm vein

109. A 17-year-old male has been experiencing chest pain for the past several months after effort (one event occurred with syncope); PMH is negative. Physical examination revealed normal auscultation with a hyperactive impulse that is slightly displaced to the left. A chest radiograph revealed a slightly displaced cardiac silhouette to the left and prominent bulges of the aortic knob and pulmonary artery. Which diagnostic evaluation will most likely be helpful in confirming your clinical suspicion/etiology for his chest pain?

A. Auscultation

B. Chest x-ray

C. Echocardiography

D. Cardiac catheterization

E. Magnetic resonance imaging

110. You are seeing a 14-year-old male patient for the first time. His mother died suddenly at the age of 39 and was found to have hypertrophic cardiomyopathy (HCM) on autopsy. Your patient had a negative echo performed at age 5 due to a history of a murmur. His electrocardiogram is normal for his age. His echocardiogram reveals a maximal left ventricular wall thickness of 17 mm. When should the next echo and follow-up visit be performed?

A. 6 months

B. 1 year

C. 3 years

D. 5 years

E. Only if symptoms arise

111. What is the known pattern of inheritance in HCM?

A. Autosomal recessive

B. X-linked recessive

C. Autosomal dominant

D. Sporadic

E. X-linked dominant

112. A 17-year-old male with a family history of sudden cardiac death collapsed while watching the finale of a singing competition on television. He had just stood up to get something from the refrigerator and fell without warning. His girlfriend performed successful CPR. He was brought to the ED and subsequently admitted to the PICU. A bedside echo revealed a 28-mm interventricular septum with systolic anterior motion of the mitral valve. A maximal instantaneous Doppler gradient of 100 mm Hg is demonstrated across the left ventricular outflow tract. What is your recommendation regarding management?

A. Place ICD only

B. Surgical septal myectomy only

C. Perform surgical septal myectomy, then place ICD

D. Start nadolol only

E. Perform surgical septal myectomy, then start nadolol

113. Which of the following will increase the outflow murmur in a patient with obstructive HCM?


B. Squatting

C. Isometric handgrip

D. Phenylephrine

E. Amyl nitrate inhalation

114. Regarding the risk of sudden death in individuals with HCM, which of the following statements is the most correct?

A. Most HCM-related sudden deaths occur during or just after vigorous exercise.

B. The strongest predictor of sudden death is degree of LVOT obstruction

C. A drop in blood pressure during exercise is associated with an increased risk of sudden death

D. Sudden death in patients with HCM is most often due to primary pulseless electrical activity

E. For patients at high risk of sudden death, septal myectomy is a valid alternative to ICD placement

115. A 14-year-old is found to have his family’s genetic mutation for HCM. He has no symptoms attributable to his heart. His echocardiogram was normal. There is no family history of sudden death. According to the 36th Bethesda Conference, which of the following management strategies is most appropriate?

A. Prophylactic ICD placement

B. Beta blocker therapy alone

C. Beta blocker therapy and activity restriction

D. Activity restriction alone

E. No medical therapy or activity restriction

The following stem is used for the next two questions:

A 4-year-old male presents to the ED with fever, irritability, increased work of breathing, and poor feeding. Symptoms initially began 4 weeks before presentation while visiting family in southern Mexico, but they seemed to improve over the next several days. However, he never seemed to be “back to himself” over the next several weeks. His parents report a 2 to 3 day h/o fever, vomiting, and diarrhea with progressive worsening of his condition in the hours prior to presentation.

Physical examination reveals an anxious, diaphoretic, grunting child. Vitals: T 39.2, R 64 and labored, P 186, BP 98/40 (right arm). O2 sat = 93% on room air. Lung examination reveals accessory muscle use and wheezing. Cardiac examination reveals a downward, laterally displaced apical impulse. S1 is normal, S2 is increased. An S3 gallop rhythm is audible. There is a grade II/VI holosystolic murmur over the left lower sternal border. His abdomen is distended. The liver edge is palpable 6 cm below the right costal margin. His extremities are somewhat cool. Capillary refill time is 4 to 5 s. Peripheral IV access is obtained. Labs are pending.

Chest x-ray reveals cardiomegaly. Echocardiography demonstrates a severely dilated left atrium and a dilated, poorly functioning left ventricle.

116. What drug is most likely to be of initial benefit to this patient?

A. Nebulized albuterol

B. Epinephrine

C. High-dose dobutamine

D. Milrinone

E. Digoxin

117. A Spanish translator obtains further history. It turns out that the family saw a doctor in Mexico 3 weeks before presentation who started the boy on nadolol for suspected long QT syndrome. The patient took a dose 2 hours before arrival in the ED. Given this new information, what is the best therapy for the patient?

A. Nebulized albuterol

B. Dobutamine

C. Norepinephrine

D. Milrinone

E. Digoxin

118. A 10-month-old boy presents in severe respiratory distress and poor perfusion requiring admission to the pediatric ICU for mechanical ventilation and inotropic support. His history is remarkable for poor weight gain and hypotonia. He has been treated for the last 10 days with antibiotics and albuterol inhalers for a respiratory infection and reactive airway disease.

Oxygen saturation by pulse-oximetry is 88% on 60% FiO2. His CXR shows severe cardiomegaly with diffuse pulmonary infiltrates consistent with pulmonary venous congestion. An arterial blood gas reveals the following: pH 7.28, PaCO2 48, Pa O2 55, HCO3 15, base deficit -9. A complete blood count reveals the following: WBC 2.6 (4% neutrophils, 65% monocytes, 22% lymphocytes, 6% basophils, 3% eosinophils), Hgb 14, Hct 45, Platelets 220, 000. This CBC is very similar to a CBC done 2 weeks ago when his illness started. His family history is significant for a maternal uncle and maternal great uncle who both died of heart disease in childhood. On general examination he is not dysmorphic. Which of the following laboratory test results would you expect to be present in this patient?

A.Decreased acid α-glucosidase activity in skin fibroblasts

B. Elevated mucopolysaccharides in urine

C. Elevated 3-methylglutaconic acid in urine

D. Mutation in fibrillin-1 (FBN-1)

E. SCN5A mutation

119. A cardiac catheterization is performed to differentiate between RCM and constrictive pericarditis (CP). Which hemodynamic parameters would be more consistent with RCM rather than CP?

A. Right atrial pressure (RAP) = pulmonary wedge pressure (PWP)

B. RVSP < 50 mm Hg



E. Normal PVR index

120. An 18-year-old patient previously healthy male presents with weight loss, intermittent fever, cough, and a systemic macular rash. He has progressively worsening shortness of breath. A chest x-ray reveals vascular congestion in the lung fields. Physical examination reveals a gallop rhythm, loud P2, and a palpable liver 5 cm below the costal margin. A CT scan shows evidence of prior splenic and hepatic infarcts. Serial blood work reveal normal Hgb, WBC, and platelet counts, but show a persistently elevated eosinophil count of >3, 000 eosinophils/mm3. Echocardiography is consistent with an RCM. Which of the following is the most appropriate initial outpatient treatment regimen for this patient?

A. Digoxin, Lasix, Coumadin, Aspirin

B. Digoxin, Enalapril, Aldactone, Prednisone

C. Digoxin, Lasix, Diuril, Acetazolamide, Enalapril, Coumadin, Prednisone

D. Digoxin, Lasix, Enalapril, Coumadin, Prednisone

E. Lasix, Enalapril, Coumadin, Prednisone, Methotrexate

121. According to the WHO classification of cardiomyopathies, which of the following findings precludes the diagnosis of RCM?

A. Reduced RV diastolic volume

B. LV EF 50%

C. Normal LV wall thickness

D. Right atrial enlargement

E. Normal LV end diastolic volume

122. A 10-year-old patient with Duchenne muscular dystrophy is undergoing an orthopedic surgical procedure for which he will be placed under general anesthesia. Which medication should be avoided during the procedure?

A. Fentanyl

B. Succinylcholine

C. Midazolam

D. Milrinone

E. Vecuronium

123. A 4-year-old male is noted during a primary care evaluation to have gross motor delay. He is suspected to have Duchenne muscular dystrophy and gene testing is pending. He was referred for cardiac evaluation. What characteristic ECG findings would you most likely expect?

A. Ventricular premature contractions

B. Q waves in leads II, V1, V2, and V3

C. Atrial premature contractions

D. First degree AV block

E. Q waves in leads I, aVL, V5, and V6

124. You are seeing a 4-year-old male with a waddling gait and calf pseudohypertrophy. What type of murmur do you expect to hear on cardiac examination?

A. Systolic ejection murmur with a click

B. No murmur

C. Continuous murmur

D. Diastolic murmur

E. High-pitched holosystolic murmur

125. Which of the following is the most commonly reported arrhythmia among children with RCM?

A. Atrial fibrillation

B. Atrial flutter


D. Second-degree AV block, type II

E. Symptomatic sinus bradycardia


1. ANSWER: D  This clinical scenario is most consistent with a diagnosis of Alagille syndrome. Alagille syndrome is an autosomal dominant disorder associated with liver disease secondary to bile duct paucity, cholestasis, congenital heart disease, skeletal or ocular abnormalities, or typical facial features. Mutations in the Notch ligand, JAG1, are responsible for the clinical phenotype. Alagille syndrome is characterized by right-sided heart disease including peripheral pulmonary stenosis (diffuse hypoplasia of the pulmonary arterial bed as well as discrete stenosis), pulmonary valve stenosis, and TOF. Left-sided lesions and septal defects have also been reported.

NOTCH1 mutations result in aortic valve pathology but not the other findings given here. PTPN11 mutations result in Noonan syndrome (characterized by hypertelorism, ptosis, short stature, and CHDs, most commonly pulmonary valve stenosis and HCM). Additional cardiac manifestations include secundum-type atrial septal defect, VSD, TOF, pulmonary artery stenosis, coarctation of the aorta, incomplete atrioVSD (primum-type atrial septal defect), and polyvalvulopathy. Other noncardiac anomalies of Noonan syndrome include webbed neck, skeletal anomalies, bleeding diathesis, lymphatic disorders, mental retardation, and cryptorchidism. TBX1 is a gene that resides in the area of chromosome 22q11; mutations of TBX1 lead to features of DiGeorge syndrome (hypocalcemia, immunodeficiency, and severe CHD, most commonly IAA type B, truncus arteriosus, or TOF). GATA4 mutations appear to be involved in septation defects but are not associated with a classic syndrome as described in the vignette.

2. ANSWER: E  Heart defects in congenital rubella syndrome include pulmonic stenosis (valvar, supravalvar, or peripheral) and patent ductus arteriosus. TOF has also been reported.

3. ANSWER: E  Caffeine intake during pregnancy has not been shown to result in an increased risk of congenital heart disease in the fetus.

4. ANSWER: C  Women with maternal phenylketonuria who have high levels of phenylalanine when pregnant have a high likelihood of having children with microcephaly and mental retardation. There is an increased risk for left-sided defects, septal defects, and TOF.

5. ANSWER: D  This vignette describes Williams syndrome, which is characterized in part by CHDs, hypercalcemia in infancy, skeletal and renal anomalies, cognitive deficits, social personality, and so-called “elfin facies.” Approximately 90% of patients with the clinical diagnosis of Williams syndrome have a deletion at chromosome 7q11.23, which is not generally apparent on a routine karyotype but can be detected by FISH. Approximately 55% to 80% of patients with Williams syndrome have CHDs, which typically include supravalvar aortic stenosis and/or supravalvar pulmonary stenosis. Therefore, a click may not be present despite a murmur and significant gradient across the involved outflow tract.

18q deletion is associated with ASD, VSD, and pulmonary stenosis and is associated with cleft palate and GU anomalies. Tetrasomy 22p is known as “cat eye syndrome” and is associated with rectoanal anomalies, coloboma, genitourinary anomalies, and preauricular pits/tags. Deletion of 8p23 is associated with septal defects, GU anomalies, abnormally formed ears, and minor hand anomalies. Chromosome 22q11 deletion is known as DiGeorge syndrome or velocardiofacial syndrome and is characterized by hypocalcemia, immunodeficiency, and severe CHD, most commonly IAA type B, truncus arteriosus, or TOF.

6. ANSWER: C  Approximately 55% to 80% of patients with Williams syndrome have congenital heart disease, which typically include supravalvar aortic stenosis and/or supravalvar pulmonary stenosis. The degree of cardiovascular involvement varies widely. Supravalvar pulmonary stenosis tends to improve with time, while supravalvar aortic stenosis usually progresses. Sudden death has been described in Williams syndrome. Suspected etiologic factors include coronary artery stenosis and severe biventricular outflow tract obstruction. Presumably, sudden cardiac death resulted from myocardial ischemia, decreased cardiac output, or arrhythmias. Patients with Williams syndrome are prone to develop hypertension because of renal artery stenosis.

7. ANSWER: C  This scenario describes trisomy 18. The distinctive phenotype of trisomy 18 includes growth retardation, short palpebral fissures, small mouth, and micrognathia. Specific features include a prominent occiput, short sternum, small nipples, clenched hands, disorganized or hypoplastic palmar creases, hyperconvex nails, and “rocker bottom feet.” Congenital heart diseases are the rule (>90% incidence). Most common associated defects include perimembranous VSDs, TOF, DORV, and polyvalvular dysplasia. Approximately 90% of affected individuals die in the first year of life and usually not of their heart disease.

8. ANSWER: C  The most common CHDs associated with a 22q11 deletion include TOF, IAA type B, truncus arteriosus, perimembranous VSD, and aortic arch anomalies. A wide range of CHDs has been reported in patients with a 22q11 deletion, including pulmonary valve stenosis, atrial septal defect, heterotaxy syndrome, and hypoplastic left heart syndrome.

9. ANSWER: E  This clinical scenario describes pulmonary hypertension resulting from a large unrepaired atrial septal defect. Although rare, severe, and irreversible hypertensive pulmonary vascular disease can develop from unrepaired ASDs. There is a female preponderance for this association. Spontaneous closure is rare for defects >8 mm in size. Although severe mitral regurgitation, nonsustained VT, and LV diastolic dysfunction can contribute to dyspnea on exertion, they are not the primary cause as indicated by this scenario.

10. ANSWER: D  In general, cardiac catheterization is unnecessary for the diagnosis of secundum ASD. Occasionally, however, questions about pulmonary vascular obstructive disease or associated cardiac defects arise that require catheterization. In this case, it is important to assess the presence and degree of pulmonary vascular vasoreactivity to determine appropriate treatment. It would be premature to start therapy without a thorough understanding of the pulmonary artery pressures and reactivity.

11. ANSWER: B  Sinus venosus ASDs account for 5% to 10% of ASDs and are located posterior and superior to the fossa ovalis. The sinus venosus defect commonly is associated with anomalous connection of the right pulmonary veins to either the right atrium or the superior vena cava near the caval–atrial junction. The preoperative electrocardiogram shows that about half of patients have a frontal plane P-wave axis of <30 degrees. The other types of atrial septal defects are associated with normal P-wave axes.

12. ANSWER: A  The complete form of AVSD is characterized by a large septal defect with interatrial and interventricular components and a common atrioventricular valve that spans the entire septal defect. The septal defect extends to the level of the membranous ventricular septum, which is usually deficient or absent.

The common atrioventricular valve has five leaflets. Beneath the five commissures are five papillary muscles. The two left-sided papillary muscles are oriented closer together than in a normal heart, and the lateral leaflet is smaller than usual. In addition, the two papillary muscles are often rotated counterclockwise, thus positioning the posterior muscle farther from the septum than normal and the anterior muscle closer to the septum. This papillary muscle arrangement, along with a large anterolateral muscle bundle, can contribute to progressive LVOT obstruction.

13. ANSWER: A  In partial AVSD, the mitral and tricuspid annuli are separate. Partial AVSD consists of a primum ASD and a “cleft” anterior mitral valve leaflet. Although patients with partial AVSD may be asymptomatic until adulthood, symptoms of excess pulmonary blood flow typically occur in childhood. Tachypnea and poor weight gain occur most commonly when the defect is associated with moderate or severe mitral valve regurgitation or with other hemodynamically significant cardiac anomalies. Patients with primum ASDs usually have earlier and more severe symptoms, including growth failure, than patients with secundum ASDs. Repair of residual/recurrent mitral valve regurgitation or stenosis is the most common reason for reoperation.

In this clinical scenario, surgical correction was required early, suggesting a hemodynamically significant cleft mitral valve. This patient presents with progressive shortness of breath. Physical examination and chest x-ray findings suggest mitral valve regurgitation. Mitral stenosis may be involved also, but the murmur on examination suggests regurgitation is significant. The patient may indeed have pulmonary hypertension, but it would be secondary rather than primary in origin. LVOT obstruction is an important consideration for all forms of AVSD, and it is usually progressive. However, it would be characterized by a systolic ejection-type murmur. Pulmonic stenosis also would have an ejection murmur but would be heard best over the left upper sternal border.

14. ANSWER: C  In the normal heart, the aortic valve is wedged between the mitral and the tricuspid annuli. In AVSD the aortic valve is displaced or “sprung” anteriorly. This anterior displacement creates an elongated, so-called gooseneck deformity of the LVOT. LVOT obstruction may occur in all forms of AVSD. It is more frequent when two atrioventricular valve orifices are present than when there is a common orifice. Ten percent of patients with AVSD may require reoperation to relieve LVOT obstruction (while the most common indication for reoperation is left AV valve regurgitation or stenosis). Progressive LVOT obstruction is more common in partial than in complete AVSD. Mechanisms of LVOT obstruction include attachments of superior bridging leaflet to ventricular septum, extension of the anterolateral papillary muscle into the LVOT, discrete fibrous subaortic stenosis, tissue from an aneurysm of the membranous septum bowing into the LVOT. Obstruction may develop de novo after initial repair of the AVSD and closure of the mitral valve cleft.

15. ANSWER: D  Right bundle branch block is common and may be due to ventriculotomy or direct injury to the right bundle itself. However, right bundle branch block occurs after a transatrial repair as well. Of the other options, a residual ASD would likely not be the cause of a newly split S2, a residual VSD would be accompanied by a murmur. Ventilation changes would not result in a newly split S2.

16. ANSWER: C  The valve closure sounds in small VSDs are usually normal. Some patients, however, have wide splitting of the second sound. If there is associated pulmonary stenosis or mitral insufficiency in a patient with VSD, these lesions may be suspected when the systolic murmur is transmitted to the upper left sternal border or apex, respectively. Flow across large (unrestrictive) VSDs is limited primarily by relative resistances of the systemic and pulmonary circulations.

Minor anomalies of the tricuspid valve may be acquired secondary to left-to-right shunting across perimembranous defects. These anomalies include redundant septal leaflet tissue that can partially or completely occlude the defect. After VSD repair, the LV mass and volume decrease, but volume decreases at a much greater rate than mass. Finally, patients who develop Eisenmenger physiology typically begin manifesting cyanosis before 2 years of age.

17. ANSWER: B Prolapse of one of the aortic valve cusps may occur with outlet or perimembranous VSDs. Patients with outlet defects usually have deficiency of muscular or fibrous support below the aortic valve with herniation of the right coronary leaflet through the VSD. The aortic commissures themselves are usually normal. In contrast, patients with perimembranous VSDs and aortic insufficiency have herniation of the right or much less commonly the noncoronary cusp, have frequent abnormalities of aortic commissures (usually the right/noncoronary), and may have associated infundibular pulmonary stenosis. Echocardiography and angiography can show that the prolapsed aortic leaflet partially closes a moderate to large VSD and limits the left-to-right shunt. The associated aortic valve insufficiency is progressive.

The murmur of an incompetent tricuspid valve or mitral valve would be systolic. The patient is asymptomatic and acyanotic; hence, Eisenmenger physiology is not present. Therefore, RV and LV pressures have not equalized.

18. ANSWER: B  The relationship of the atrioventricular conduction pathways to VSDs is important to surgical repair. In perimembranous defects, the bundle of His lies in a subendocardial position as it courses along the posterior-inferior margin of the defect. In inlet defects, the bundle of His passes anterosuperiorly to the defect. In muscular VSDs and outlet defects, there is little danger of heart block because the conduction tissue generally is far removed unless these defects extend into the perimembranous area.

19. ANSWER: A  When signs of necrotizing enterocolitis develop in an infant with significant left-to-right shunting through a PDA, early surgical closure of the ductus arteriosus has significantly reduced mortality. Therefore, if abdominal distention is persistent, increasing residuals before feedings, blood in the stools or gastric aspirate, decreasing bowel sounds, and, particularly, intramural air occur in association with a significant left-to-right shunt through a PDA, immediate surgical closure is recommended.

20. ANSWER: A  Bacterial endarteritis is uncommon in developed countries, although it remains a serious complication of PDA in undeveloped countries. In such countries, PDA accounts for up to 15% of all endocarditis cases. S. viridans and Staphylococcus aureus are the most common organisms. Vegetations occur in >80% and are almost always seen on the pulmonary artery end of the duct.

21. ANSWER: B  Postnatal closure of the ductus arteriosus occurs in two phases. The first phase, “functional closure, ” occurs within 12 hours after birth. There is contraction and cellular migration of the medial smooth muscle in the wall of the ductus arteriosus that causes the vessel walls to become thick and protrude into the vessel lumen. The second stage usually is completed by 2 to 3 weeks and results from infolding of the endothelium, disruption and fragmentation of the internal elastic lamina, proliferation of the subintimal layers, and hemorrhage and necrosis in the subintimal region. There is connective tissue formation and replacement of muscle fibers with fibrosis with subsequent permanent sealing of the lumen, thus forming the ligamentum arteriosum.

22. ANSWER: E  Ibuprofen has been evaluated as a possible alternative to indomethacin in preterm infants. Studies have shown a similar rate of ductal closure after ibuprofen treatment with fewer negative effects on renal function. Also, ibuprofen may have fewer negative effects on cerebral vasculature and cerebral blood flow than indomethacin, although the risk of intraventricular hemorrhage is equivocal. Of note, using ibuprofen for prophylaxis is associated with increased risk of pulmonary hypertension.

23. ANSWER: A  Surgical correction of ALCAPA involves direct reimplantation of the origin of the left coronary artery into the aorta is considered the standard corrective surgical approach in many centers. An alternative approach is the Takeuchi procedure, in which an aortopulmonary window is created and then a tunnel fashioned that directs blood from the aorta to the left coronary ostium.

Because of papillary muscle infarction and dysfunction, significant preoperative mitral insufficiency has been found to be a risk factor for both mortality and need for late mitral valve surgery.

24. ANSWER: A  A localized weakness of the wall of a sinus of Valsalva leads to aneurysmal bulging. If the aneurysm ruptures, the size of the fistula determines how large the shunt will be, and its site of entry into the heart often determines the specific features. Thus, aneurysmal rupture into the left heart does not produce signs of a left-to-right shunt, whereas rupture into the right heart produces a left-to-right shunt. With a small fistula, there may be only a continuous murmur with its maximal intensity in the third or fourth intercostal space near the sternal edge. If the fistula enters the right atrium, the murmur may be maximal to the right of the sternum. With larger fistulas, there will be a wide pulse pressure, a collapsing pulse, and left ventricular hyperactivity. If the fistula enters the right side, there will be right ventricular hyperactivity as well. A large fistula entering the left ventricle may display a to-and-fro murmur and simulate aortic incompetence. Occasionally, there is only a diastolic murmur in fistulas entering the left ventricle or the high-pressure right ventricle in a neonate.

25. ANSWER: C  In this anomaly, the left coronary artery arises from the pulmonary artery, usually from the left posterior facing sinus. In fetal life, pressures and oxygen saturations are similar in the aorta and pulmonary artery, so myocardial perfusion is normal. After birth, the pulmonary arteries have low pressures and desaturated blood, which does not bode well for myocardial perfusion. Myocardial ischemia subsequently occurs. Ischemia is worsened with exertion such as feeding or crying. As time passes, infarction of the anterolateral LV free wall occurs. The mitral valve papillary muscles are affected, and mitral regurgitation develops.

Anomalous coronary artery origins from the wrong sinus of Valsalva are generally asymptomatic in infancy. The most common anomaly (a third of all major coronary arterial anomalies) is origin of the left circumflex from the right main coronary artery. This anomaly has no general clinical significance in the absence of intracardiac surgery.

The origin of the left main coronary artery from the right sinus of Valsalva is less common but more important clinically. If the anomalous vessel passes between the aorta and the RVOT, the child is at risk for sudden death during or just after vigorous exercise. In many of these cases, the ostium of the left main coronary artery is slit-like, increasing further the risk.

26. ANSWER: C  A localized weakness of the wall of a sinus of Valsalva leads to aneurysmal bulging. Localized aneurysms are usually congenital, with thinning just above the annulus at the leaflet hinge. However, aneurysms can follow infective endocarditis. Approximately 75% of patients are male. Approximately 65% of aneurysms are located in the right aortic sinus, 25% in the noncoronary sinus, and 10% in the left aortic sinus. Up to 50% of cases may be associated with VSDs, especially right sinus aneurysms associated with defects of the outlet septum. Aneurysms can rupture into any cardiac chamber. Rupture is most often of the right sinus aneurysm into the right ventricle in the setting of an outlet VSD. Rupture into the pericardium is rare.

27. ANSWER: E  Central nervous system AVMs manifest symptoms according to their hemodynamic effects. Infants presenting with CHF typically have large AVMs. The most common cerebral AVMs presenting with CHF are located deep (vein of Galen), superficial (pial), or dural. Affected infants have high-output CHF with dilation of all cardiac chambers, feeding arteries, and draining veins. If there is venous obstruction, flow can be restricted through the AVM, so patients may present with venous hypertension or cerebral ischemia.

The prognosis for most patients with large cerebral arterial malformations is grave. If untreated, most newborns (90%) die during the first week of life from intractable CHF or neurologic complications (seizures, intracranial hemorrhage). Those who do survive the neonatal period often suffer profound neurologic morbidity (hydrocephalus, mental retardation, hemorrhage).

28. ANSWER: C  Most pulmonary AVMs are congenital or associated with HHT. Pulmonary AVMs enlarge as the child grows older. A high proportion (>85%) of patients with multiple pulmonary AVMs have HHT. Overall, 30% to 50% of patients with pulmonary AVMs have HHT.

Patients with pulmonary AVMs generally are hemodynamically stable. In contrast to systemic AVMs, cardiac output is not increased, while pulmonary blood flow and pressures are unchanged. Of note, during cardiac catheterization, the total PVR is normal. That is, resistance within the AVM is low, whereas the resistance in the other lung segments may be elevated.

29. ANSWER: B  Transcatheter embolization has become the treatment of choice for pulmonary AVMs. Embolization provides persistent relief of hypoxemia, resolution of orthodeoxia, and minimal growth of small remaining AVMs. The embolization procedure is effective for preventing stroke and transient ischemic attacks but interestingly does not appear to reduce the risk of brain abscess.

To avoid device embolization (through the AVM to the systemic circulation), transcatheter occlusion of the afferent artery or fistula is usually accomplished using a coil or umbrella rather than liquid adhesive or beads. The goal is to raise the systemic arterial oxygen tension (some authors suggest to 60 mm Hg) by occluding the most significant afferent arteries (generally considered those to be >3 mm in diameter).

30. ANSWER: C  Large AVMs and large patent ductus arteriosus have similar hemodynamic effects (large extracardiac left-to-right shunts) and thus are indistinguishable in terms of pulse pressure, liver span, cardiothoracic ratio on chest x-ray, and QRS axis on ECG. Diagnostic cardiac catheterization is usually unnecessary, as the diagnosis is suspected by clinical examination and confirmed by noninvasive imaging. When performed, catheterization demonstrates high cardiac output, elevated atrial and ventricular end-diastolic pressures, a widened systemic arterial pulse pressure, and a large difference in the oxygen saturation between the superior and inferior vena cava (higher saturation from the involved area).

31. ANSWER: B  A barium esophagram which shows an anterior indentation is virtually pathognomonic for a pulmonary artery sling or a tumor. Origin of the left pulmonary artery from the right pulmonary artery, known as a pulmonary artery sling, is a rare anomaly in which the lower trachea is partially surrounded by vascular structures. The left pulmonary artery arises as a very proximal branch of the right and then loops around the trachea. It is the only situation in which a major vascular structure passes between the trachea and esophagus.

Pulmonary sling is frequently associated with complete cartilaginous rings in the distal trachea resulting in tracheal stenosis. It usually appears as an isolated abnormality but can be associated with other congenital cardiac defects, including TOF.

32. ANSWER: B  Right aortic arch with mirror image branching describes an aortic arch that traverses the right mainstem bronchus. The first branch is a left innominate artery that divides into left carotid and left subclavian arteries. The second branch is the right carotid, and the third is the right subclavian. The ductus arteriosus (or ligamentum arteriosum) is usually on the left side and arises from the base of the innominate artery. This lesion typically does not form a vascular ring. However, this arch anomaly is frequently associated with congenital intracardiac disease. The most common association is with TOF, but other conotruncal anomalies may also be seen, as well as DORV. Therefore, an echocardiogram should be considered in this patient to evaluate the intracardiac anatomy.

The patient is asymptomatic at this time, so further work-up for a vascular ring (such as swallowing study or bronchoscopy) is not necessary.

33. ANSWER: A  A vascular ring is an aortic arch anomaly in which the trachea and esophagus are completely surrounded by vascular structures. The clinical picture typically includes respiratory symptoms, especially stridor. Pneumonia, bronchitis, or cough may also be present. Infants may demonstrate a posture of hyperextension of the neck. A common history is that of a 1- to 3-month-old with “noisy breathing since birth” who develops more significant respiratory distress in association with an intercurrent upper respiratory infection. Less commonly (and usually in toddlers or older children), the presentation will be swallowing difficulty. Of the listed options, only a right aortic arch with retroesophageal innominate artery and a left PDA complete the ring.

34. ANSWER: D  IAA is defined as a complete separation of ascending and descending aorta. Celoria and Patton classified IAA into three types: type A if the interruption was distal to the left subclavian artery, type B if between carotid and subclavian arteries, and type C if between carotid arteries. These patients typically present with acute cardiovascular collapse or heart failure after spontaneous closure of the ductus arteriosus in the first days of life.

Absence of all limb pulses suggests a type B interruption with an anomalous subclavian artery. In this situation, both carotid arteries are proximal to the interruption, while both subclavians are distal to the interruption. Strong carotid pulses help to differentiate interrupted arch from critical aortic stenosis in which all pulses are diminished.

35. ANSWER: A  Right arch with diverticulum of Kommerell is the second most common vascular ring after double aortic arch.

In right aortic arch with retroesophageal left subclavian artery, there is no left-sided ductus arteriosus or ligamentum arteriosum and thus no vascular ring. Left aortic arch with retroesophageal right subclavian artery is the most common aortic arch anomaly, but does not form a ring and is usually asymptomatic. Right aortic arch with retroesophageal innominate artery is a very rare abnormality of the aortic arch system. The ductus arteriosus (or ligamentum arteriosum) completes a vascular ring as it connects the left pulmonary artery with the base of the innominate artery. However, it is much less common than right arch with retroesophageal diverticulum of Kommerell.

36. ANSWER: C  In classic cor triatriatum, a membrane separates the more proximal chamber, which receives the pulmonary veins, from the more distal left atrium, which communicates with the mitral valve. To allow for cardiac output, typically there is a hole in the membrane that ranges from <3 mm to about 1 cm. The distal, true left atrium is in continuity with the left atrial appendage. The fossa ovalis usually is located between the distal left atrial chamber and the right atrium; occasionally, a patent foramen ovale/ASD is present in this area. Right ventricular hypertrophy and dilation are almost invariably found. Right atrial hypertrophy and dilation are present in ~25% of cases. Hypertrophy and dilation of the right atrium results in tall, broad, oftentimes peaked P waves on ECG.

The prognosis in TAPVC is influenced by the size of the interatrial communication and by the degree of obstruction in anomalous venous pathways. Overall mortality for unrepaired TAPVC is 80% or more at 1 year. Long-term prognosis depends on the state of the pulmonary vascular bed at the time of surgery as well as the patency of the pulmonary venous–left atrial anastomosis. Late arrhythmias may develop in a small number of these patients. Atrial arrhythmias are most common and include sinus bradycardia, atrial flutter, and supraventricular tachycardia. Ventricular rhythm problems are unusual.

Scimitar syndrome describes the chest x-ray findings present in anomalous connection of the right pulmonary veins to the IVC. There is a crescent-like shadow in the right lower lung field; the shape of the shadow resembles a Turkish sword, or scimitar. Frequent coexistent anomalies include hypoplasia of the right lung and chest, mesocardia or dextrocardia, and lung parenchymal abnormalities.

37. ANSWER: D  A superior sinus venosus defect (also called SVC type) results from deficiency of the common wall between the SVC and the right upper pulmonary vein (RUPV). This defect “unroofs” the RUPV. The unroofed pulmonary vein then drains into the SVC, while its left atrial orifice becomes the interatrial communication. This interatrial communication is not a defect of the atrial septum. The RUPV connection to the left atrium is usually normal.

38. ANSWER: E  The correct catheter course is IVC → right atrium → SVC → innominate vein → vertical vein → anomalous pulmonary venous confluence.

39. ANSWER: E  In infradiaphragmatic TAPVC, the most common site of obstruction is at the anomalous vessels’ connection with the portal vein or the hepatic veins. By 2D echo, there frequently is seen a dilated venous channel proximal to the site of stenosis. If unobstructed, the anomalous vessel is characterized by a low-velocity, phasic laminar flow pattern with brief flow reversal during atrial systole. Luminal narrowing is associated with flow acceleration and turbulence by color Doppler.

Corrective surgery for the infant or child with TAPVC should be performed as soon as possible. In the sickest infants, the patient’s clinical condition should be optimized, including the cardiorespiratory and metabolic states. When possible, surgery should be done on the basis of echocardiography rather than cardiac catheterization in an effort to lessen the time to operation and therefore reduce mortality.

Balloon atrial septostomy and blade atrial septostomy have been used in the past as palliative procedures. Septostomy delays the definitive procedure and is of little value when an anomalous venous channel is obstructed. Balloon dilation of obstructed anomalous venous channels is usually unsuccessful.

40. ANSWER: D  The echocardiogram image demonstrates cor triatriatum. Most patients with classic cor triatriatum have onset of symptoms within the first few years of life. However, some patients present in the second or third decade of life. Frequently, these patients will present with a history of dyspnea, frequent respiratory issues including “asthma, ” and pneumonia. They often are considered to have primary pulmonary disease.

Untreated cor triatriatum results in pulmonary hypertension. Physical examination findings include a loud pulmonary component of the second heart sound, right ventricular heave, and pulmonary systolic ejection click. A murmur of tricuspid regurgitation may be present. Less often, a diastolic murmur is detected at the mitral area, or a continuous murmur may be heard. Right-sided heart failure is common. Pulmonary rales are heard if pulmonary edema is present.

In the patient with pulmonary edema or right heart failure, the disease frequently is progressive despite maximal medical management. Surgical intervention should be planned as soon as possible. Surgical resection of the cor triatriatum membrane under cardiopulmonary bypass is the effective treatment of choice. When pulmonary edema and right heart failure occur, survival is usually only a matter of months. However, in patients who survive operative correction, the severe pulmonary arterial changes that result in pulmonary hypertension can regress. In these patients, the prognosis seems excellent.

41. ANSWER: C  Other than partial anomalous pulmonary venous connection (PAPVC) to the right SVC and to the right atrium (sinus venosus defect and malposition of the septum primum, respectively), the most common type of PAPVC is of the left pulmonary veins to the LIV. The left-sided pulmonary vein(s) connect(s) to the LIV through a persistent early embryonic pathway. The connecting vein (often called a “vertical vein”) between the left pulmonary veins and the LIV may incorrectly be termed a persistent left superior vena cava (LSVC). This term is incorrect both embryologically and anatomically.

Embryologically, the vertical vein represents a persistent early embryonic connection between the splanchnic plexus of the lung buds and the cardinal veins. Anatomically, it is positioned more posteriorly than the LSVC, which is located immediately behind the left atrial appendage. An LSVC usually connects with the coronary sinus, although it may connect with the left atrium when the coronary sinus is unroofed. When a left pulmonary vein drains into the LSVC, the LSVC still should connect with the coronary sinus or with the left atrium.

A secundum atrial septal defect is commonly associated with PAPVC to the LIV. A primum atrial septal defect is very uncommon. Rarely, the atrial septum is intact.

42. ANSWER: D  Absence of the hepatic segment of the IVC with azygous continuation into the right or left SVC is referred to as an interrupted IVC. Pulmonary AVMs have been known to develop after a classic or bidirectional Glenn anastomosis owing to the exclusion of hepatic venous blood or “hepatic factor” to the lungs. This malformation can develop in one or both lungs if preferential blood flow is present. In the case described in this vignette, there is likely inadequate hepatic venous blood flow to the pulmonary arteries.

43. ANSWER: B  Congenital malformations of the coronary sinus frequently are associated with arrhythmias. SVT and sudden cardiac death have been reported in a significant percentage of patients with diverticula of the coronary sinus. Patients with diverticula of the coronary sinus usually present with SVT associated with accessory pathways that transverse the diverticulum to form an atrioventricular connection.

44. ANSWER: D  This patient is a set-up for inadequate systemic blood flow, given his tricuspid valve atresia and transposition of the great arteries with a restrictive VSD. He has evidence of systemic underperfusion with acidosis. He requires a stable source of systemic blood flow. Of the given options, only a DKS procedure results in a stable systemic circulation.

45. ANSWER: E  Uhl anomaly is a congenital cardiac malformation consisting of an almost total absence of the RV myocardium. Cyanosis and hepatomegaly are often present, as is jugular venous distension. The precordium usually is quiet, and peripheral pulses are diminished. The heart tones are decreased. A pansystolic murmur of tricuspid insufficiency may be present, but patients may have no murmurs or other nonspecific murmurs present.

ECG usually shows prominent P waves and diminished QRS amplitude, especially in the right precordial leads. The chest x-ray demonstrates cardiomegaly with normal to diminished pulmonary vascularity (which can appear similar to Ebstein’s anomaly of the tricuspid valve).

Echocardiography demonstrates marked dilation of the right-sided cardiac chambers. An important finding is the presence of the tricuspid valve leaflets arising appropriately from the annulus, differentiating this lesion from Ebstein’s anomaly.

At cardiac catheterization, similar pressure wave contours are obtained from the pulmonary artery, right ventricle, and right atrium. The right atrial a wave is dominant. Endocardial potentials, if recorded during catheterization, show normal transition between the ventricular and atrial complexes, helping to rule out Ebstein’s anomaly.

Most patients die in infancy or childhood. The typical pathologic finding is the markedly dilated, “parchment-like” right ventricle. Histologically, the endocardium is thickened, and there are few if any true myocardial cells in the right ventricular free wall. The tricuspid valve arises normally from a dilated valve annulus and may be dysplastic, but is not displaced into the right ventricular cavity.

46. ANSWER: C  In patients with relatively normal cardiac output, classification of severity of pulmonary stenosis routinely is based on measurements of RV pressure and valve gradient. Mild stenosis is characterized by a RV pressure less than half the LV pressure or a peak valve gradient <35 mm Hg to 40 mm Hg. In moderate stenosis, the RV pressure is ~50% to 75% of the LV pressure, or the peak gradient is ~40 mm Hg to 60 mm Hg. Severe stenosis is defined as a RV pressure ≥75% of the LV pressure or a peak gradient >60 mm Hg to 70 mm Hg.

In this case, TR velocity predicts an RV-to-RA pressure gradient of 49 mm Hg, or an RV systolic pressure of 55 mm Hg. Using the modified Bernoulli equation 4(V12 – V22), the peak gradient across the pulmonary valve is 4(16–4) or 48 mm Hg. Both of these measurements indicate moderate pulmonary valve stenosis.

47. ANSWER: E  If discontinuation of prostaglandin E1 and subsequent ductal constriction are not tolerated immediately after valvuloplasty, these infants can be maintained on prostaglandin for 2 to 3 weeks while intermittently assessing whether constriction of the ductus is tolerated with O2 saturations remaining ≥70%. Neonates who immediately remain cyanotic following valvuloplasty often demonstrate improvement over weeks to months as RV compliance improves and the atrial right-to-left shunt decreases. Ultimately, those in whom a shunt was created can undergo shunt closure either surgically or by transcatheter techniques.

48. ANSWER: B  As a result of pulmonary valve stenosis, secondary changes in the RV and pulmonary arteries can occur. The infundibular region of the RV becomes hypertrophied with resultant dynamic subvalvular obstruction. This hypertrophy can persist in the immediate post-valvuloplasty period, resulting in limited pulmonary outflow. Over time, once the fixed pulmonary obstruction is removed, this hypertrophy resolves.

49. ANSWER: D  In the setting of unilateral branch pulmonary artery stenosis without a significant left-to-right shunt, resting RV systolic pressure remains normal. The contralateral pulmonary artery accommodates the cardiac output without an increase in pressure. Because flow to the stenotic side is lower than normal, the severity of obstruction may be underestimated by systolic pressure difference estimations (though the diastolic pressure difference is proportional to the severity of obstruction).

The protocol for angioplasty consists of positioning a balloon dilation catheter across the stenotic segment of the pulmonary artery. In contrast to pulmonary valve dilation, the balloon diameter should be three to four times the narrowest pulmonary artery segment.

Percutaneous balloon angioplasty of peripheral pulmonary artery stenosis has a lower success rate than pulmonary valvuloplasty. The overall acute success rate for branch PA angioplasty is ~50% to 60%. The rate of recurrent stenosis has been 15% to 20% in short-term to mid-term follow-up; long-term follow-up is unknown.

50. ANSWER: C  It is important to confirm the coronary circulation in patients with pulmonary atresia with intact ventricular septum before proceeding with an intervention. “Right ventricular–dependent coronary artery circulation” describes the situation whereby the myocardium is supplied by blood that originates in the RV at systemic or supra-systemic systolic pressure and supplies the myocardium in a retrograde fashion. Myocardial ischemia, infarction, and death may result if significant ventriculo-coronary connections are present and the right ventricular pressure is reduced secondary to an intervention.

In the normal circulation, the aortic diastolic pressure primarily drives coronary blood flow. Factors that reduce aortic diastolic pressure (or shorten diastole) will compromise coronary blood flow. The presence of ventriculo-coronary artery connections may result in coronary artery stenosis and/or interruption. In this case, aortic diastolic pressure may not be sufficient to drive coronary blood flow; elevated RV pressures are necessary. Interference with blood flow into the RV or other reduction of RV systolic pressure has deleterious effects.

51. ANSWER: E  Transcatheter perforation of the atretic pulmonary valve with subsequent balloon dilation is an alternative to surgical valvotomy. The ideal patient (lowest risk) would have a tripartite right ventricle of near normal size with valvar pulmonary atresia and a well-developed pulmonary arterial circulation. There would not be RV-depending coronary circulation.

In general, the smallest RVs are associated with the most ventriculo-coronary connections. Unipartite or bipartite ventricles are much more likely to have ventriculo-coronary communications. Using the convention of the tricuspid Z value, data from the CHSS demonstrated a positive correlation with ventriculo-coronary connections: A negative tricuspid Z value correlates with the presence of ventriculo-coronary connections.

52. ANSWER: A  This patient demonstrates evidence of RV-dependent coronary circulation. Therefore, decompression of the RV is not warranted, eliminating an RV-to-PA conduit or pulmonary valvotomy.

53. ANSWER: D  The angiogram demonstrates evidence of RV-dependent coronary circulation in the inferior distribution. Therefore, he would exhibit evidence of myocardial ischemia in an inferior distribution, including ST elevation in leads II, III, and aVF.

54. ANSWER: C  Despite the lack of evidence of RV-depending coronary circulation by echocardiography, cardiac catheterization is still necessary to rule out such circulation. MRI does not have a role in the pre-operative management of a 4-day-old infant. Biopsy is not indicated.

55. ANSWER: E  These images demonstrate pulmonary atresia with intact ventricular septum. Ventriculo-coronary connections are observed in ~45%, but a little <10% of patients are considered to have wholly RV-dependent coronary circulation (CHSS database). Confluent pulmonary arteries usually are mediated by a left-sided ductus arteriosus. A main pulmonary artery is almost always present. Rarely, nonconfluent pulmonary arteries are supported by bilateral ductus arteriosus or aorto-pulmonary collaterals. Some patients with this disease have all three RV components present; in others, the RV is extremely underdeveloped and may have an inlet only. There is no known gender predilection.

56. ANSWER: E  For patients whose pulmonary artery anatomy appears amenable to reconstruction, procedures leading to complete repair are indicated. Connecting the RV to the central pulmonary artery using a conduit is performed; this may promote growth of the central pulmonary arteries. Unifocalization procedures are performed to incorporate the maximum number of pulmonary artery segments into the eventual RV outflow reconstruction. The ultimate goal is complete repair (closure of all septal defects, interruption of all extracardiac sources of pulmonary arterial blood flow, and incorporation of at least 14 pulmonary arterial segments in a connection to the right ventricle).

At the end of a full repair, the central pulmonary artery size should be at least 50% of normal size. At the end of the operation, the RV pressure should be ≤70% that measured in the LV. If higher, the VSD should be reopened.

57. ANSWER: D  At the end of the operation, the right ventricular pressure should be ≤70% that measured in the left ventricle. If higher, the VSD should be reopened.

58. ANSWER: C  This patient has an estimated RVSP of >50 mm Hg, based on the modified Bernoulli equation. Given that her systemic BP is 65 mm Hg, her VSD should be re-opened. RV systolic pressure at the conclusion of the operation should be <70% of LV systolic pressure.

59. ANSWER: C  In PA-VSD, the blood supply to the lungs is entirely from the systemic arterial circulation. These include the ductus arteriosus, multiple systemic-to-pulmonary collateral arteries, occasionally a coronary artery, and plexuses of bronchial or pleural arteries. Ductal and collateral sources may be present in the same patient but rarely in the same lung.

The caliber of the central pulmonary arteries appears to be directly related to the amount of blood flow present through that segment. When the ductus or collateral arteries connect proximally to the central pulmonary arteries (as in this patient), the pulmonary arteries may be mildly hypoplastic or even normal in size. When multiple collateral arteries are present more distally, the central pulmonary arteries are usually hypoplastic.

60. ANSWER: A  In pulmonary atresia with VSD, the sinus node is normal. The AV node occupies its normal position within the triangle of Koch. The nonbranching proximal portion of the His bundle penetrates the central fibrous body and lies along the left ventricular aspect of the posteroinferior rim of the VSD.

61. ANSWER: E  Hypercyanotic spells constitute a medical, and possibly surgical, emergency. Treatment is directed toward lowering impedance to pulmonary flow and further increasing systemic vascular resistance. Typical treatment includes administration of supplemental oxygen, volume expansion, β-blockade, and sedation with morphine or ketamine. If needed, vasopressors (such as phenylephrine) can be used to increase systemic vascular resistance and decrease the relative ratio between pulmonary and systemic resistance. Occasionally, emergent surgical palliation or repair is required.

To prevent such spells, dehydration should be avoided; hence, choices A and C are incorrect. Choice B is the inverse of what is advisable. Choice D is not a bad choice, per se, because β-blockade is used to treat a hypercyanotic spell. However, choice E is better because such measures can help prevent a spell, rather than treat a spell once it’s started.

62. ANSWER: E  Waterston shunts (anastomosis of the ascending to the right pulmonary artery) or Potts shunts (descending aorta to left pulmonary artery) may result in pulmonary artery distortion with consequent inconsistent transmission of flow and pressure to the pulmonary arterial bed. Pulmonary arterial stenosis and/or pulmonary vascular disease preclude routine use of these palliative procedures.

The catheterization data demonstrate a significant gradient between the MPA and the RPA. The patient may or may not benefit from sildenafil; further testing with inhaled NO would help make such a determination. She does not have evidence of a left-to-right shunt based upon her SpO2 measurements. At this point, she does not have evidence of RV-PA conduit stenosis as the RV-to-MPA systolic gradient is <10 mm Hg. Her dyspnea on exertion more likely is due to her pulmonary vascular disease than her mild LV diastolic dysfunction (LVEDP = 10 mm Hg).

63. ANSWER: E  Some newborns with TOF with absent pulmonary valve may be asymptomatic with only mild cyanosis and no findings of heart failure. As PVR drops in early infancy, a net left-to-right shunt can develop with pathophysiology of a VSD. These patients may require minimal medical intervention and undergo elective surgical correction at a later age. Other newborns can present with respiratory failure. In the most serious cases, central bronchial compression from massively dilated pulmonary arteries can result in respiratory failure despite conventional mechanical ventilation. In this case, respiratory distress may be improved by placing the patient prone to suspend the pulmonary arteries off the airways.

64. ANSWER: D  This patient demonstrates evidence of critically restricted antegrade flow to the lungs. Given a prenatal diagnosis of TOF, it is reasonable at this point to start prostaglandin to reopen the ductus arteriosus. Once he is stabilized, he can be considered for either total repair or a systemic-to-pulmonary shunt. While most newborns with TOF do not have ductal-dependent pulmonary blood flow and may be followed without specific early intervention, this patient demonstrates that he is “ductal-dependent.” PGE1 should be started without delay. Then other studies, such as echocardiogram, can be performed. He should not go to surgery before attempts at medical stabilization have been attempted.

65. ANSWER: C  All patients with TOF demonstrate anterior and cephalad deviation of the outlet septum. The degree and nature of this deviation determines the severity of subpulmonic obstruction, the size of the VSD, and the degree of aortic override. In virtually all patients with severe infundibular obstruction, there is an associated large, nonrestrictive VSD and a prominent overriding aorta. In this case, it is very uncommon to have a restrictive VSD. Among other findings, a large conal branch, or accessory left anterior descending artery, is seen in ≤15% of hearts. A left SVC is found in ~10% of patients.

66. ANSWER: C  A truly continuous murmur is uncommon in truncus arteriosus. When present, is usually suggests pulmonary artery ostial stenosis. Continuous murmurs are common in patients with PA/VSD. Patients with PA/VSD can have either a patent ductus arteriosus or systemic collateral arteries to the pulmonary arteries. Because the differential diagnosis of truncus arteriosus includes this lesion, a continuous murmur is strongly suggestive of pulmonary atresia rather than of truncus arteriosus.

67. ANSWER: E  In truncus arteriosus, the left coronary artery tends to arise from the left posterolateral truncal surface and the right coronary artery from the right anterolateral surface. The left anterior descending coronary artery frequently is relatively small and displaced leftward. The conal branch of the right coronary artery is usually prominent and supplies several large branches to the right ventricular outflow tract.

The posterior descending coronary artery arises from the left circumflex artery (left coronary dominance) in 25% to 30% of truncus arteriosus patients. Anomalies of coronary ostial origin are common, involving 37% to 49% of patients.

68. ANSWER: A  Patients with truncus arteriosus are at risk of having pulmonary vascular obstructive disease develop at an early age, and this has provided the major impetus for early surgical correction. For patients presenting beyond infancy, PVR must be assessed to select the best treatment.

Patients with truncus arteriosus who have two pulmonary arteries and a pulmonary arteriolar resistance >8 units m2 are at high operative risk. In most centers, corrective surgery is not offered to most these patients. Some centers might offer repair to children who are <2 years of age and whose resistance decreases <8 units m2 with vasoreactivity testing. In a child of 8 years, unfortunately, pulmonary artery changes are irreversible.

Cardiac transplantation is not a good option because this patient will have irreversible obstructive pulmonary vascular disease.

69. ANSWER: A  The pulmonary arteries most commonly arise from the left posterolateral aspect of the truncus arteriosus, a small distance above the truncal valve. Type I truncus arteriosus is observed in ~50% to 65% of patients, type II in 30% to 45%, and type III in 5% to 10%.

The truncal valve is tricuspid in ~70%, quadricuspid in ~20%, and bicuspid in ~10%.

A right aortic arch with mirror-image brachiocephalic branching is associated fairly commonly with truncus arteriosus, occurring in about one-fifth to one-third of patients.

IAA occurs relatively frequently (~10% to 20% of patients). It is frequently associated with the DiGeorge syndrome.

Among other associated anomalies, a secundum atrial septal defect has been noted in ~10% to 20% of patients, an aberrant subclavian artery in ~5% to 10%, a persistent LSVC draining into the coronary sinus in ~5% to 10%, and mild tricuspid stenosis in ~6%.

70. ANSWER: E  As mentioned above, IAA in the setting of truncus arteriosus is frequently associated with DiGeorge syndrome (chromosome 22q11 deletion).

71. ANSWER: C  This child is younger than 2 years of age. His PVR decreases to <8 units m2 when 100% oxygen is breathed. In such young patients, surgery may still be offered if the parents are willing to accept a higher surgical risk because it is possible that the increased resistances may result from arteriolar or medial smooth muscle hypertrophy and vasoconstriction rather than advanced intimal occlusive disease. These changes may be reversible.

72. ANSWER: C  The second heart sound usually is loud and single in truncus arteriosus. The occasionally heard split second sound in these patients may be caused by delayed closure of some of the cusps of the abnormal truncal valve.

73. ANSWER: D  Corrective surgery for truncus arteriosus is preferred in the first weeks of life. Delay of operation runs the risk of ischemia of the hypertrophied ventricle secondary to desaturated blood at a low diastolic perfusion pressure (caused by runoff through the pulmonary arteries as well as “aortic” insufficiency, if present). Repair of truncus at 6 to 12 months of age carries a mortality rate twice that for repair between 6 weeks and 6 months. Pulmonary vascular obstructive disease also can develop early, which provides additional impetus for correction in the first few months of life.

The preferred operation is complete repair during the neonatal period. Although techniques of repair that do not include an extracardiac conduit have been described, most prefer a valved conduit when complete repair is performed because of the presence of pulmonary hypertension.

The presence of a regurgitant truncal valve is almost always amenable to various repair techniques, and replacement is rarely if ever required in the neonatal period. If recurrent truncal valve incompetence occurs, repair or replacement of the truncal valve can be performed at the time of reoperation for conduit replacement.

74. ANSWER: D  Asymmetric congenital mitral stenosis, with unbalanced cord attachment, is often termed parachute mitral valve. In the more common type, there are two papillary muscles. However, the valve is parachute-like with unbalanced chordae predominantly attached to one papillary muscle, mimicking the appearance of a classic parachute mitral valve. Less common are valves with hypoplastic, fused, or single papillary muscles and focalized cord attachments (the so-called classic parachute mitral valve).

75. ANSWER: B  In this rare condition, also known as “hammock valve, ” the mitral valve leaflets are thickened and chordae are markedly shortened or absent. The leaflets insert directly to the papillary muscles or to the posterior ventricular wall, resulting in limited mitral valve excursion, stenosis, and insufficiency. An abnormal band of fibrous tissue often extends along the free margin of one or both valve leaflets, thus tethering the leaflets and papillary muscles.

76. ANSWER: A  It is common, after surgical relief of mitral valve stenosis, for pulmonary hypertension to persist. In this vignette, physical examination findings are consistent with pulmonary hypertension and mitral valve regurgitation. The echocardiogram documents a mitral inflow gradient of 5 mm Hg, making residual mitral stenosis or an unrecognized supramitral ring unlikely. Also, the valve was repaired through an atrial approach, making an unrecognized ring very unlikely. The pulmonary vein Doppler is not suggestive of pulmonary vein stenosis.

77. ANSWER: D  This rare defect of the anterior mitral valve leaflet often is associated with significant mitral insufficiency presenting in infancy or young children. It may also occur as an isolated defect in asymptomatic individuals. In isolated cleft, the atrioventricular septum is intact, and the left ventricular outflow tract is not elongated. The valve is somewhat dysplastic, as the cleft edges usually are thickened and rolled. The cleft is directed anteriorly toward the outflow septum, as opposed to an atrioventricular canal defect where the cleft is more posteriorly directed toward the inlet septum.

In isolated cleft of the mitral valve, the papillary muscles are generally normal. In most cases, chordae attach to the papillary muscles. There may be accessory cords which attach to the membranous and muscular septum. In some cases of complete cleft, accessory cords are absent, and the anterior leaflet is usually flail and grossly insufficient. Associated left ventricular outflow tract obstruction may be caused by the accessory cords.

The mitral annulus is commonly dilated. The most commonly associated congenital heart anomalies include atrial and VSDs and transposition of the great arteries.

78. ANSWER: A  Management of young infants and children with moderate mitral insufficiency remains primarily medical, including diuretics and afterload-reducing agents such as angiotensin-converting enzyme inhibitors. Some patients may require antiarrhythmic medication for atrial arrhythmias as well. Platelet antagonists or anticoagulation may be used in patients with atrial thrombosis (which develops secondary to severe left atrial enlargement and/or atrial fibrillation).

Patients with severe mitral insufficiency and heart failure unresponsive to medical management require surgical management.

79. ANSWER: D  The physical examination findings are suggestive of MVP. While usually innocuous, there is a small subset of patients who may be at risk for sudden cardiac death. MVP patients with the following conditions are restricted to low-intensity competitive sports only (class 1A): arrhythmogenic mediated syncope; repetitive nonsustained or sustained supraventricular tachycardia or frequent/complex ventricular tachyarrhythmias on ambulatory Holter monitoring; color Doppler evidence of severe mitral regurgitation; left ventricular ejection fraction <50%. Otherwise, MVP patients are permitted participation in all competitive sports.

80. ANSWER: C  In neonates with critical aortic stenosis and a small left ventricle, therapeutic direction requires a decision regarding adequacy of the left heart to support a two-ventricle circulation. Several studies have addressed methods of quantitatively assessing adequacy of the left heart to handle the entire systemic circulation. Infants with non-apex-forming left ventricle, small aortic annulus (<5 mm), and small mitral valve annulus (<9 mm) may have improved survival with Norwood-type palliation or cardiac transplant than with treatment strategies to achieve a two-ventricle circulation.

Rhodes et al. developed a predictive equation for success of two-ventricle management plan in neonates with critical aortic stenosis. The parameters that were most predictive of success or failure included aortic root dimension indexed to body surface area, the ratio of the long axis of the left ventricle to the long axis of the heart, and the indexed mitral valve area. In a prospective multicenter analysis performed by the Congenital Heart Surgeons Society, a regression equation was used to predict 5-year survival probability with Norwood-type palliation versus two-ventricle approach. Discriminating parameters included age, aortic valve Z score, grade of EFE, diameter of ascending aorta, presence of significant tricuspid valve regurgitation, and left ventricular length Z score. Significant retrograde flow in the distal aortic arch through the patent ductus arteriosus is also associated with lower likelihood of success with a two-ventricle approach.

81. ANSWER: D  The case describes aortic stenosis or subaortic stenosis. The systolic ejection murmur is loudest at the mid left sternal border and radiates to the upper sternal borders and into the suprasternal notch. A systolic click is rare, which helps to differentiate subvalvular aortic stenosis from valvular aortic stenosis. The left ventricular impulse may be hyperdynamic, and associated findings of aortic regurgitation and/or mitral valve regurgitation may be present.

82. ANSWER: D  The American College of Cardiology/American Heart Association guidelines for management of aortic stenosis recommend the following:

  • Asymptomatic children and young adults with Doppler peak instantaneous gradients (PIG) of ≥70 mm Hg be considered for cardiac catheterization and possible balloon valvuloplasty.

  • Patients who desire to participate in competitive sports or are contemplating pregnancy and have Doppler PIG between 50 mm Hg and 70 mm Hg should be considered for catheterization and possible valvuloplasty.

 If the catheter measured peak-to-peak gradient is >60 mm Hg, balloon valvuloplasty is indicated.

 If the patient desires to play competitive sports or become pregnant, balloon valvuloplasty is indicated if the peak-to-peak gradient is >50 mm Hg.[COMP: Please set these highlighted two points as the second level in list]

  • Patients with symptoms (angina, syncope, dyspnea on exertion) or ischemic or repolarization changes on rest or exercise ECG should have valvuloplasty if the peak-to-peak gradient is >50 mm Hg.

  • Valvuloplasty is not recommended for asymptomatic patients with peak-to-peak gradients <50 mm Hg unless cardiac output is impaired.

83. ANSWER: A  TDI may be helpful in assessment of systolic and diastolic dysfunction in patients with aortic stenosis. Doppler parameters derived from mitral or pulmonary vein flow have been used for estimation of left ventricular filling pressure, but limitations to these measurements are dependent on loading conditions and heart rate. TDI directly measures myocardial velocities, typically the systolic and diastolic mitral annular velocities. This practice allows quantification of systolic long-axis function and diastolic function.

In patients with aortic stenosis, the ratio of early mitral inflow velocity (E) to early diastolic mitral annular velocity (E’) correlates with the LV end diastolic pressure, thereby providing a clinically useful noninvasive method of assessing diastolic dysfunction. Additionally, measurement of the mitral annular systolic velocity (S’) by TDI may demonstrate systolic long-axis dysfunction in patients with aortic stenosis who have otherwise normal ejection fractions.

Because longitudinally oriented fibers are present in the subendocardial region, and the subendocardium is most susceptible to ischemia in patients with aortic stenosis, these fibers are at greater risk than the circumferentially oriented fibers. Long-axis dysfunction therefore might precede transverse axis dysfunction.

84. ANSWER: E  The 36th Bethesda Conference Task Force recommendations for competitive athletics defines aortic stenosis severity as follows (PIG):

  • Mild: peak-to-peak gradient <30 mm Hg, mean Doppler gradient <25 mm Hg, or PIG <40 mm Hg

  • Moderate: peak-to-peak gradient 30 mm Hg to 50 mm Hg, mean Doppler gradient 25 mm Hg to 40 mm Hg, or PIG 40 mm Hg to 70 mm Hg)

  • Severe: peak-to-peak gradient >50 mm Hg, mean Doppler gradient >40 mm Hg, or PIG >70 mm Hg

Patients with mild stenosis, if asymptomatic and possessing normal exercise tolerance, are permitted to participate in all competitive sports. Patients with severe aortic stenosis should not participate in any competitive sports.

Asymptomatic patients with moderate aortic stenosis, absent or mild left ventricular hypertrophy, absence of repolarization abnormality on ECG, and a normal exercise test may participate in sports with a low static component and low-to-moderate dynamic component (such as golf, bowling, baseball/softball, and volleyball).

If such patients have no history of supraventricular tachycardia or ventricular tachyarrhythmias at rest or with exercise, they may participate in sports with moderate static component and low dynamic component (such as diving, archery, equestrian, and motorcycling).

For aortic valve stenosis patients who also have aortic regurgitation, these recommendations must be considered in concert with the Task Force recommendations for aortic regurgitation.

For details regarding indications for balloon aortic valvuloplasty, please refer to Answer 82.

85. ANSWER: C  Subaortic stenosis is a lesion that occasionally progresses rapidly. However, the rate of progression of mild subvalvular aortic stenosis is variable, and the obstruction may remain mild for many years. Factors associated with more rapid progression of obstruction include higher initial pressure gradient, short distance between the obstructive lesion and the aortic valve, and anterior mitral valve leaflet involvement.

Left ventricular hypertrophy and myocardial fibrosis are seen in patients with aortic stenosis. EFE and papillary muscle infarction can be seen in infants with severe aortic stenosis but typically are not present in mild forms of disease. Myocardial fibrosis may also be present in asymptomatic children with hemodynamically moderate congenital aortic stenosis. EFE is likely may be partially reversible.

Traditionally, Doppler estimates of pressure gradients across stenotic valves have been used for estimation of severity of obstruction. These measurements are dependent on loading conditions, heart rate, and other factors.

For infants with severe or critical aortic valve stenosis who are thought to be candidates for two-ventricle circulation, initial therapy usually entails balloon valvuloplasty or surgical valvotomy. For critical neonatal aortic stenosis, open surgical valvotomy or percutaneous balloon valvuloplasty procedures may be performed. Balloon valvuloplasty is the preferred procedure in most centers. Open surgical valvotomy may result in higher likelihood of residual or recurrent stenosis, whereas balloon valvuloplasty may be associated with a higher incidence of important aortic regurgitation.

86. ANSWER: D  This patient has a history and physical examination concerning for a ductal-dependent lesion, most likely coarctation of the aorta. Prostaglandin should be started immediately. Medical therapy and further imaging studies should not take priority until PGE1 has been started.

87. ANSWER: D  This Doppler profile is suggestive of aortic arch obstruction, consistent with coarctation of the aorta. Children who present in infancy are much more likely than older children to have complex coarctation (associated lesions). Approximately 50% of patients who require surgical correction before 12 months of age have a simple coarctation. Among the remaining ~50% with complex coarctation, a large VSD is the most common associated lesion. VSDs associated with coarctation include the perimembranous, muscular, or malalignment types. A malalignment VSD may occur with posterior deviation of the conal septum and left ventricular outflow tract obstruction. Such subvalvular aortic stenosis is particularly common in the critically ill infant who presents with coarctation and VSD.

A bicuspid aortic valve occurs in up to 85% of patients with coarctation, and the valve may be stenotic or the annulus hypoplastic. Mitral stenosis also occurs in patients with coarctation and may be caused by a supravalvar mitral ring, thickening and dysplasia of the mitral leaflets, short dysplastic chordae tendineae, or the presence of a single “parachute” papillary muscle. The association of multiple left-sided obstructive lesions with coarctation has been referred to as Shone syndrome.

88. ANSWER: A  Coarctation more commonly presents in an asymptomatic child as upper extremity hypertension or a heart murmur. Coarctation repair is generally recommended at 2 to 3 years of age in asymptomatic children without severe upper-extremity hypertension. The risk for late recurrence of coarctation appears to be increased when repair is performed on a patient younger than 1 year of age. Studies demonstrate that the normal descending aorta has attained ~50% of its final adult diameter by 3 years of age. Because significant hemodynamic obstruction at rest occurs only if the aortic diameter is reduced by ≥50%, restenosis following coarctation repair after 3 years of age should be uncommon. Furthermore, because of an increased risk for residual hypertension and early atherosclerotic cardiovascular disease, elective repair should not be delayed into late childhood and adolescence.

89. ANSWER: E  This patient has evidence of Turner syndrome and coarctation. An echocardiogram is warranted. Her left arm systolic BP is 20 mm Hg higher than her right arm or lower extremities. This indicates that she likely has an anomalous right subclavian artery.

90. ANSWER: B  A normal abdominal aortic Doppler profile does not rule out coarctation of the aorta. If the ductus arteriosus is patent, the pulsed wave Doppler profile can appear normal.

91. ANSWER: A  Turner syndrome is associated with a 45, XO genotype

92. ANSWER: D  Exercise-induced upper-extremity hypertension is usually associated with an increase in the coarctation pressure gradient during exercise. This is believed to be secondary to an increase in aortic blood flow across a relatively nondistensible coarctation repair site. Patients with exercise hypertension, but without significant anatomic stenosis following coarctation repair, may benefit from β-blocker therapy with a decrease in exercise hypertension and coarctation gradient.

The long-term prognosis following repair of coarctation may be adversely affected by systemic arterial hypertension and an associated increase in premature atherosclerotic disease. Systolic and diastolic hypertension may occur at rest, most commonly in patients whose coarctation repair is delayed beyond late childhood. The risk for late hypertension may be as high as 10% to 20%, even when the coarctation is repaired in infancy. The cause of late postoperative hypertension in patients without a residual resting coarctation gradient may relate to anatomic and functional changes in the arterial vasculature proximal to the coarctation.

93. ANSWER: D  This patient is suffering from inadequate tissue delivery to end organs, as evidenced by his acidosis, elevated liver function studies, and elevated creatinine. Matching of oxygen delivery to changes in oxygen consumption is more effective through interventions in total cardiac output or hemoglobin concentration than by precise manipulation of Qp/Qs balance. In this case, the patient is relatively anemic (Hgb 12 g/dL), and therefore, transfusion is warranted.

For those patients in whom Qp/Qs is elevated and systemic perfusion is compromised, therapy with milrinone might be warranted. Milrinone, however, has also been shown to reduce PVR and carries the undesired risk of increasing Qp/Qs. Furthermore, milrinone could result in significant hypotension in a patient already at risk for decreased perfusion.

Increasing the amount of inspired oxygen or starting nitric oxide both could increase the pulmonary blood flow at the expense of systemic perfusion. Increasing the ventilator rate from 24 to 30 could drive down pCO2, which could increase pulmonary blood flow at the expense of systemic perfusion and would not be as helpful as increasing the hemoglobin concentration.

94. ANSWER: A  Anterior malalignment VSDs are associated with varying degrees of overriding of the pulmonary annulus into the right ventricle. With increasing degrees of override, the anatomy becomes more and more similar to DORV with subpulmonary defect (Taussig–Bing anomaly). The subaortic stenosis caused by the anterior malalignment of the infundibular septum is frequently associated with aortic arch hypoplasia, coarctation, or even complete interruption of the aortic arch.

95. ANSWER: D  Consistent with the normal atrial anatomy, the sinus and AV nodes are in their usual locations.

The normal conus is subpulmonary, left sided, and anterior, and it prevents fibrous continuity between the pulmonary and tricuspid valve rings. In d-TGA, the infundibulum is usually subaortic, right sided, and anterior, and it prevents fibrous continuity between the aortic and tricuspid valve rings. d-TGA is hypothesized to result from the abnormal growth and development of the subaortic infundibulum with concurrent absence of growth of the subpulmonary infundibulum.

With intact ventricular septum, the entire septum is usually a relatively straight structure and does not have the sigmoid curvature typical of the normal heart.

Dynamic obstruction is rare in the neonate with elevated pulmonary artery resistance or in the presence of a nonrestrictive ductus arteriosus, as the left ventricle pumps against systemic systolic pressure and retains “normal” geometry.

Following atrial level repair, frequently there is a small to moderate systolic pressure differences across the subpulmonary outflow tract.

96. ANSWER: C  In the infant with d-TGA/large VSD and severe left ventricular outflow obstruction, there may be markedly restricted pulmonary blood flow and severe hypoxemia. In some neonates, a palliative systemic-to-pulmonary arterial shunt may be performed, with intracardiac correction carried out at a later age. Alternatively, corrective surgery can be performed in early infancy. However, none of the surgical corrections listed among the answer choices would be appropriate for this patient.

One appropriate corrective surgery in this case would be the Rastelli operation, a combination of intraventricular repair and placement of an extracardiac right ventricle-to-pulmonary artery conduit. The Rastelli repair has been considered the most appropriate operation for d-TGA with large VSD and extensive LVOTO because it achieves complete bypass of the LVOTO and an anatomic correction of the transposition pathology.

An alternative technique, termed REV (Réparation à l’étage ventriculaire), could potentially be used. The REV procedure appears to have some advantages over the Rastelli operation: application in younger patients, avoidance of prosthetic extracardiac conduit, and avoidance of intracardiac tunnel obstruction. This operation involves performing a high, anterior right ventricular incision and a radical excision of the outlet septum to create an unobstructed anterior right ventricular cavity; establishing a short and direct intraventricular tunnel from the LV to the aorta; closure of the pulmonary artery orifice; and reimplantation of the transected pulmonary artery directly onto the right ventricular outflow cavity without a prosthetic conduit.

Finally, posterior translocation of the aortic root and coronary arteries can be performed, with enlargement of the left ventricular outflow tract, with conduit placement from the right ventricle to the pulmonary arteries anteriorly, as originally described by Nikaidoh and advocated by others.

97. ANSWER: C  In ccTGA, the interventricular septum has a sagittal position. With ventricular inversion, both its surfaces and ventricular bundle branches are inverted, and thus the sequence of initial activation is oriented from right to left and usually in a more superior and anterior direction. This results in a reversal of the normal Q-wave pattern in the precordial leads: Q waves are present in the right precordial leads but are absent in the left precordial leads. The electrocardiographic changes identified in patients with ccTGA include reversal of Q-wave distribution in the precordial leads with QS complexes in the right precordial leads, large Q waves in leads III and aVF, and left axis deviation.

98. ANSWER: A  The AV node is located along the anterior aspect of the atrioventricular ring, near the atrial septum.

99. ANSWER: D  Varying degrees of left ventricular outflow obstruction may be observed in patients with DORV. Subaortic stenosis appears to result from extensive hypertrophy of the aortic conus and conal septum. In addition, subaortic stenosis has resulted from marked malalignment of the conal septum. With compression of the aortic outflow tract and reduction of aortic flow, there may be secondary hypoplasia of the aortic annulus and the aorta. Thus, an association has been described with interruption of the aortic arch or coarctation of the aorta in patients with DORV and subpulmonary VSD. Coarctation of the aorta, however, has also been described in instances of subaortic, doubly committed, and remote VSD.

Mitral valve abnormalities have been described. In addition to mitral atresia, anomalies including parachute mitral valve and supravalvular mitral ring have been described.

Complete correction of DORV depends on the complexity of the intracardiac anatomy. Because of the complexity of intracardiac repair of these anomalies, it may be necessary to palliate some infants and small children who become symptomatic in the first year of life.

In this case, the subaortic stenosis, aortic coarctation, parachute mitral valve with straddling indicates that complete two-ventricle repair will be impossible. Furthermore, to establish a stable source of systemic perfusion, aortic arch reconstruction will be necessary. Therefore, a Norwood-type palliation is indicated.

100. ANSWER: B  For patients with DORV and subpulmonary VSD, physiology is that of complete transposition of the great arteries. Therefore, the arterial switch operation appears to be the procedure of choice and can be performed in the neonatal period. The VSD should be closed at the time of the arterial switch.

101. ANSWER: D  Patients with subaortic VSDs and pulmonary stenosis display varying degrees of cyanosis. Their clinical presentations are similar to that in TOF. When the pulmonary stenosis is severe, early cyanosis, failure to thrive, exertional dyspnea, and polycythemia may be present. The precordium may show evidence of a right ventricular impulse at the left sternal border, and a prominent systolic thrill is often palpable over the upper left sternal border. This is associated with a grade 4 to 5/6 systolic ejection murmur, which radiates into the lung fields. The first heart sound is normal, and the second heart sound is usually single. A third heart sound may be noted at the cardiac apex. In older children, clubbing also may be evident.

102. ANSWER: A  Patients with DORV with subpulmonic VSD and no pulmonary stenosis typically present clinically with features resembling those in d-TGA with VSD. Commonly, these patients present with cyanosis and heart failure in early infancy. Patients in this group who have associated coarctation of the aorta may present in infancy with heart failure, cyanosis, and diminished or absent femoral pulses.

Like patients with TGA, these patients exhibit severe failure to thrive and may have frequent respiratory tract infections. Typically there is severe cyanosis and clubbing. A precordial bulge and right ventricular impulse are present at the left sternal border. A grade 2 to 3/6 high-pitched systolic murmur may be present at the upper left sternal border. When PS is present, a systolic thrill may be present, and the murmur is loud (grade 3 to 4/6). The second heart sound is loud and single because of the proximity of the aorta to the chest wall. With increased pulmonary flow, an apical diastolic rumble may be present.

103. ANSWER: D  This patient has physiology similar to d-TGA and, as such, would benefit from increased mixing at the atrial level. Increasing the rate of PGE-1 would not help, as the ductus arteriosus is already patent. Nitric oxide would potentially decrease PVR and increase pulmonary blood flow, but would not have an effect on mixing such as would a septostomy. Diuresis through furosemide would not help mixing. The patient may well require surgery, but it would be inappropriate to wait several weeks without first doing a septostomy.

104. ANSWER: D  Systemic outflow tract obstruction in the heart with a functional single ventricle promotes myocardial hypertrophy, and this has been shown to be an unequivocal risk factor for poor outcome at the Fontan procedure.

105. ANSWER: A  Pulmonary arterial banding will reduce pulmonary flow and protect the pulmonary arterioles from obstructive pulmonary arteriopathy, but may induce or aggravate subaortic stenosis due to hypertrophy of the subaortic conus. However, banding may be appropriate in the setting of DILV/DORV with multiple muscular VSDs or a remote VSD.

106. ANSWER: B  DILV with a right-sided hypoplastic subaortic right ventricle is at risk for failing a two-ventricle-type surgical repair. In this case, the patient has a restrictive bulboventricular foramen and severe subaortic stenosis. Therefore, systemic perfusion is at risk and the infant needs a stable systemic blood supply. Of the choices, an aortopulmonary anastomosis (DKS) procedure is most likely to result in a stable, long-term systemic blood supply.

Pulmonary artery banding is not the best option because it can set the stage for progressive ventricular hypertrophy and obstruction in patients who have naturally occurring mild restriction at the VSD.

107. ANSWER: D  The arterial catheter is injecting the BT shunt. The venous catheter takes the course Right IJ → SVC → common atrium → common ventricle → aorta.

108. ANSWER: A  The arterial catheter takes the course femoral artery → descending aorta → arch → BT shunt.

109. ANSWER: E  Clinical suspicion is high for a partial pericardial defect. The best way to demonstrate a defect of the pericardium is by magnetic resonance imaging.

Partial or total absence of the pericardium are rare congenital anomalies that may be associated with significant symptoms. 80% of defects occur on the left side. They appear to be secondary to premature atrophy of the left duct of Cuvier during embryologic development. Most cases of pericardial defect are identified incidentally. Symptomatic cases are rare. Symptoms, if present, may include syncope, chest pain, arrhythmias, and death. Severe symptoms have been described secondary to herniation or incarceration of the left atrial appendage through the defect, torsion of the great arteries, or constriction of a coronary artery at the rim of the defect.

The techniques of magnetic resonance imaging and computer-assisted tomography are very useful in demonstrating the pericardial defect. By MRI, a tongue of pulmonary tissue between the aorta and the main pulmonary artery is a common finding. MRI is ideal for evaluating the pericardium and is the procedure of choice to identify this diagnosis.

Chest radiography in complete absence of the pericardium may demonstrate leftward displacement of the cardiac border with a posterior bulging of the heart. Herniation of the left atrial appendage may be apparent on the chest radiograph, where the herniated appendage resembles an enlarged main pulmonary artery.

Electrocardiography frequently may be normal, but may also show right bundle branch block or other abnormalities of conduction.

By echocardiography, the right ventricle may appear enlarged, excessive cardiac motion may be apparent, and the left atrial appendage may appear prominent. Importantly, the actual defect in the pericardium cannot be imaged by echocardiography.

Cardiac catheterization is of little diagnostic value other than to document coexisting heart disease. Thoracoscopy may be necessary to confirm the diagnosis.

110. ANSWER: B  The greatest risk for sudden death in children with HCM appears to be associated with one or more of the following clinical risk markers: (a) prior cardiac arrest or sustained ventricular tachycardia; (b) family history of one or more premature HCM-related deaths, particularly if sudden and multiple; (c) syncope; and (d) massive degrees of LV hypertrophy (maximum wall thickness ≥30 mm).

In clinical practice, prospective screening of HCM family members to ascertain affected or unaffected genetic status usually takes place without access to DNA analysis and is performed primarily with 2D echocardiography and 12-lead ECG, as well as history-taking and physical examination.

The traditional recommended strategy for screening first degree relatives calls for such evaluations on a 12- to 18-month basis, usually beginning at least by age 12. If these studies do not show evidence of LV hypertrophy by 21 years of age, echocardiographic screening can be every 5 years.

111. ANSWER: C  HCM is an autosomal dominant trait.

112. ANSWER: C  The greatest risk for sudden death in children with HCM appears to be associated with one or more of the following clinical risk markers: (a) prior cardiac arrest or sustained ventricular tachycardia; (b) family history of one or more premature HCM-related deaths, particularly if sudden and multiple; (c) syncope; and (d) massive degrees of LV hypertrophy (maximum wall thickness ≥30 mm). The risk of sudden death increases significantly when septal thickness is >20mm.

For any patient who has a history of aborted cardiac death, an ICD should be placed as primary prevention. Also, since the patient’s septum is severely hypertrophied, and a significant gradient is present with associated symptoms, a myectomy should also be performed.

113. ANSWER: E  The subaortic gradient and systolic ejection heart murmur in HCM are dynamic. They can be reduced or abolished by interventions that decrease myocardial contractility (e.g., β-blocking adrenergic drugs) or increase ventricular volume or arterial pressure (e.g., squatting, isometric handgrip, or phenylephrine administration). They can be augmented by interventions that decrease arterial pressure or ventricular volume (e.g., the Valsalva maneuver or administration of nitroglycerin) or that increase contractility, such as standing, amyl nitrite inhalation, administration of isoproterenol, or exercise.

114. ANSWER: C  Sudden death due to HCM occurs most commonly during adolescence and young adulthood (12 to 35 years of age) and rarely before 10 years of age. These events are due to primary ventricular tachycardia and/or ventricular fibrillation. Most patients die while sedentary or during normal or modest physical exertion. Importantly, however, an important proportion die suddenly during or just after vigorous activity.

HCM is the most common cause of sudden cardiac death in the young, including competitive athletes. Therefore, standard recommendations are to disqualify young individuals with HCM from intense competitive sports (guidelines of the 36th Bethesda Conference).

At present, the greatest risk for sudden death in children with HCM appears to be associated with one or more of the following clinical risk markers: (a) prior cardiac arrest or sustained ventricular tachycardia; (b) family history of one or more premature HCM-related deaths, particularly if sudden and multiple; (c) syncope; and (d) massive degrees of LV hypertrophy (maximum wall thickness ≥30 mm).

Septal myectomy is performed to improve symptoms, but it is not used as a sudden death-preventative procedure. To prevent sudden death, an ICD is recommended.

115. ANSWER: E  This patient is at low risk, as he is asymptomatic, has a negative family history, and a normal echocardiogram. There is at present no recommendation to limit activity or treat medically on the basis of a genetic test.

116. ANSWER: D  This patient has CHF from dilated cardiomyopathy. The phosphodiesterase inhibitors milrinone increases stroke work and cardiac output. Both systemic and pulmonary vascular resistances are decreased, and the drug evokes unique lusitropic properties affecting relaxation and ventricular compliance. This drug is thought to promote increase in intracellular calcium concentration by inhibition of phosphodiesterase III. It is the drug of choice for CHF from dilated cardiomyopathy.

117. ANSWER: D  Nadolol is a long-acting beta blocker. Phosphodiesterase inhibitors are the treatment of choice for patients who are taking β-blocker drugs. Milrinone retains its full hemodynamic effects in the presence of β-blocker therapy. Therefore, there is no reason to change therapy.

118. ANSWER: C  This vignette describes a classic presentation of Barth syndrome. Barth syndrome is an X-linked disorder characterized by skeletal myopathy, congenital dilated cardiomyopathy, short stature, and neutropenia. Affected individuals usually die early in childhood. It is diagnosed by urinalysis revealing elevated 3-methylglutaconic acid.

Typically, boys with Barth syndrome present with hypotonia and dilated cardiomyopathy, including labored breathing, poor appetite, and/or slow weight gain, typically within the first few months after birth. Another important feature of Barth syndrome is a history of bacterial infections because of neutropenia.

The gene for Barth syndrome, Tafazzin (TAZ), is located on chromosome Xq28. Mutations in the TAZ gene lead to decreased production of an enzyme required for the synthesis of cardiolipin. There is no specific treatment for Barth syndrome, but each of the individual problems can be successfully controlled, and short stature often resolves after puberty.

119. ANSWER: D  Cardiac catheterization is an important part of the evaluation in patients with RCM and should be performed at the time of diagnosis. Catheterization can help differentiate between RCM and CP, although many hemodynamic features can overlap.

Both diseases typically have an early diastolic dip and subsequent plateau pattern, also called the square root sign. In classic RCM the left ventricular end-diastolic pressure, left atrial pressure, and pulmonary capillary wedge pressure are markedly elevated and ≥4 mm Hg to 5 mm Hg (preferably 10 mm Hg) greater than the RAP and right ventricular end-diastolic pressure. In cases in which the pressures are essentially equal, volume loading may bring out the differences in pressure between the right and left sides.

120. ANSWER: D  This vignette describes a classic case of Löffler endocarditis (hypereosinophilic syndrome, or HES). HES is typically seen in temperate climates and is more common in adult males. Persistent hypereosinophilia is present. HES includes persistent eosinophilia with 1, 500 eosinophils/mm3 for ≥6 months or until death with evidence of other organ involvement. Usually, in HES, various organs besides the heart are involved (lungs, bone marrow, and brain). The cause of the eosinophilia is unknown.

Cardiac histologic findings include eosinophilic myocarditis: inflammatory reaction in the small intramural coronary vessels with thrombosis and fibrinoid change, and endocardial mural thrombosis and fibrotic thickening.

The clinical picture may include weight loss, fever, cough, rash, and heart failure. Systemic embolism is frequent. Death is usually secondary to the cardiac manifestations of the disease. Therapy for the hypereosinophilia may include corticosteroids, hydroxyurea, or vincristine. Cardiac therapy has included digoxin, diuretics, afterload reduction, and anticoagulation. Surgical approaches have included mitral and/or tricuspid valve repair or replacement and excision of fibrotic endocardium.

121. ANSWER: E  RCM, by definition, has small ventricular volumes with normal or near-normal systolic function. Ventricular wall thickness is usually normal. The atria are enlarged.

122. ANSWER: B  It is important to realize that patients with Duchenne and Becker muscular dystrophies can have severe complications from anesthesia, including cardiac arrest. Most complications seem to be related to use of succinylcholine, a muscular relaxant that may trigger hyperkalemia. Others have been attributed to use of volatile anesthetic agents. Patients also can have a reaction similar to malignant hyperthermia, develop rhabdomyolysis, and have masseter muscle spasm.

123. ANSWER: E  The characteristic electrocardiogram in Duchenne shows deep Q waves in leads I, aVL, V5, and V6, and occasionally in leads II, III, and aVF. There is often a tall right precordial R wave and an increased R/S ratio. The P-R interval is shortened in many patients. Some have reported QT prolongation and QT dispersion abnormalities. Holter analysis has shown that automaticity is also affected whereby there is a resting sinus tachycardia, loss of circadian rhythm, and reduced heart rate variability in many patients with Duchenne muscular dystrophy.

There are frequent arrhythmias in older patients including ectopic atrial tachycardia, atrial fibrillation, transient second- and third-degree AV block, and more ominous ventricular tachycardias. The presence of multiform premature ventricular contractions and ventricular tachycardia on Holter monitoring portends possible sudden death owing to ventricular fibrillation.

124. ANSWER: B  This vignette describes Duchenne muscular dystrophy. The cardiac examination is seldom abnormal, even in the presence of cardiomyopathy. Occasionally, third or fourth heart sounds may be present. There may be neck vein distention or hepatomegaly. The examination is often distorted by chest wall deformities, especially in older patients with scoliosis.

125. ANSWER: B  Of the pediatric studies reporting arrhythmias in RCM, ~15% of the patients had arrhythmias and/or conduction disturbances. Atrial flutter was the most commonly reported arrhythmia. High-grade second-degree and third-degree heart block were the next most commonly reported rhythm disturbances. Atrial fibrillation and atrial tachycardias, Wolff–Parkinson–White syndrome with supraventricular tachycardia, symptomatic sinus bradycardia requiring pacing, and ventricular tachycardia and torsade were also reported.

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