Pediatric Cardiology Board Review

Chapter 3. Diagnosis of Congenital Heart Disease

Jonathan N.Johnson

   1. The incidence of congenital heart disease (CHD) is highest in patients with which of the following chromosomal abnormalities?

A. Trisomy 21

B. Turner syndrome

C. DiGeorge syndrome

D. Trisomy 18

E. 5p- syndrome

   2. A 3-month-old infant presents with recurrent respiratory infections and stridor. A vascular ring is suspected. Which type of vascular anomaly is most likely to be found in this patient?

A. Retroesophageal right subclavian artery with left aortic arch

B. Double aortic arch

C. Retroesophageal left subclavian artery with right aortic arch

D. Left pulmonary artery sling

E. Persistent fifth aortic arch

   3. You are seeing a 12-year-old patient in clinic who has hypertrophic cardiomyopathy. On examination, the patient has a crescendo-decrescendo systolic murmur along the left sternal border. Which of the following provocative maneuvers would decrease the intensity of the patient’s murmur?

A. Exercise

B. Straining portion of Valsalva

C. Nitroglycerine

D.α-Adrenergic stimulation

E. Isoproterenol

   4. A 6-month old with tuberous sclerosis is referred to your practice. On echocardiography, you find several moderate-sized cardiac tumors, all located with the walls of the left ventricle (LV) and right ventricle (RV) without obstruction of the left ventricular outflow tract (LVOT) or right ventricular outflow tract (RVOT). The patient is asympto-matic. What is the most likely future course for this patient?

A. Complete resolution of the tumors

B. The patient will eventually have to undergo surgical resection

C. Approximately 50% chance of requiring surgical resection

D. The tumors will resolve after an interventional procedure

E. The tumors will not resolve, but the patient will remain asymptomatic

   5. Patients with supravalvar aortic stenosis typically have which of the following?

A. Higher blood pressure in left arm versus right arm

B. Higher blood pressure in left leg versus right leg

C. Higher blood pressure in right arm versus left arm

D. Higher blood pressure in right leg versus left leg

E. Equal upper and lower extremity blood pressures

   6. A 16-year-old male presents with chest pain and diffuse ST-segment elevation. You diagnose him with acute pericarditis. On examination, you hear a typical friction rub. Which of the following maneuvers will cause the rub to become louder on auscultation?

A. Have the patient blow out as much air as possible

B. Have the patient take a deep breath

C. Have the patient lean backward

D. Have the patient stand up straight

E. Have the patient lie supine

   7. Which of the following is the most common major manifestation of rheumatic fever (RF)?

A. Carditis

B. Polyarthritis

C. Chorea

D. Subcutaneous nodules

E. Erythema marginatum

   8. A 2-year-old female is diagnosed with myocarditis. Her parents relate to you that she recently had a viral upper respiratory infection. Which of the following viruses are most likely implicated in this patient?

A. Epstein–Barr Virus (EBV) and RSV

B. Coxsackie virus and adenovirus

C. Parainfluenzae virus and coxsackie virus

D. HIV and parainfluenzae virus

E. RSV and influenza A virus

   9. A neonate is diagnosed with interrupted aortic arch. Which of the following genetic syndromes is most likely in this patient?

A. DiGeorge syndrome

B. Down syndrome

C. Turner syndrome

D. Klinefelter syndrome

E. Holt–Oram syndrome

 10. A 10-year-old female is referred for an unusual sound heard on auscultation by her pediatrician. There is a high frequency “click” audible immediately after S1 and heard best at the apex. Which of the following is the most likely cause of this click?

A. Mitral valve prolapse

B. Subvalvar pulmonary stenosis

C. Bicuspid aortic valve

D. Pulmonary valve stenosis

E. Pericardial rub

 11. A 3-year-old healthy boy is referred for evaluation of a recently heard heart murmur. His peripheral pulses are normal. The first and second heart sounds are normal. There is a grade 2/6 low-to-mid frequency “vibratory” murmur along the left sternal border. When would one expect this murmur to increase in intensity?

A. When going from sitting to supine position

B. When going from sitting to standing position

C. When squatting

D. With deep inhalation

E. During the third phase of the Valsalva maneuver

 12. Which of the following is the most appropriate indication for performing a pericardiocentesis?

A. Presumed bacterial pericarditis

B. Presumed viral pericarditis

C. Hypertension

D. Asymptomatic patient with hypothyroidism

E. Asymptomatic patient with renal failure

 13. A 2-year-old child presents for evaluation due to a cardiac murmur. On examination, a high-frequency continuous murmur is present at the right upper sternal border. The murmur is maximal in the upright position and is softer when the neck is turned. What is this murmur most likely?

A. Aortic insufficiency murmur

B. Venous hum

C. Patent ductus arteriosus

D. Peripheral pulmonary branch stenosis

E. Carotid bruit

 14. You are consulted on a 1-day-old neonate in the NICU for a heart murmur. On examination, you note a loud systolic ejection murmur radiating throughout the precordium, with a prominent LV impulse. The neonate has poor peripheral perfusion and weak femoral pulses. On echocardiography, you obtain a right parasternal image with the velocity shown Figure 3.1. in the ascending aorta.

Of the following, which is the most appropriate next intervention to perform?

Figure 3.1.

A. Urgent aortic valvuloplasty

B. Initiation of IV milrinone

C. Pericardiocentesis

D. Urgent atrial balloon septostomy

E. Initiation of ECMO

 15. In which of the following patients can an MRI be safely utilized to assess RV function?

A. 40 y/o status post placement of a permanent pacemaker lead without a generator

B. 18 y/o status post AICD placement for long QT syndrome

C. 19 y/o 1 week status post covered stent placement for coarctation of the aorta

D. 25 y/o status post repair of tetralogy of Fallot and status post DDD pacemaker placement

E. 26 y/o status post placement of a 36 mm Amplatzer septal occluder

 16. A 1-week-old patient is referred to you for a murmur. On ECG, they have evidence of left axis deviation. Which of the following is the most likely diagnostic cause of the left axis deviation?

A. Complete AV canal defect

B. Total anomalous pulmonary venous connection

C. Concentric LVH

D. Secundum atrial septal defect

E. Double-outlet right ventricle (DORV)

 17. A 15-year-old female presents to the clinic complaining of a rapid heart rate, which she has noticed for the past month. She denies any chest pain, syncope, or pre-syncope. Heart rate is 110/min while sitting on the examination table. Blood pressure is 110/70 mm Hg. BMI is 16. A faint systolic ejection murmur is heard. Of the following, which would be the most appropriate laboratory test to order?

A. Electrolyte panel

B. Thyroid-stimulating hormone (TSH)

C. Chromosome panel (karyotype)

D. Hemoglobin A1C

E. Serum cortisol

 18. A 9-year-old daughter of migrant workers is brought to the emergency department with new-onset pain in her knees and wrists. Her knees are swollen and red and are tender to the touch. You also note several erythematous, serpiginous, macular lesions with pale centers on her trunk that are not pruritic. She is febrile (temp = 39.5°C), and is found to have an elevated serum streptococcal antibody titer. Of the following, which is the most likely diagnosis?

A. Juvenile rheumatoid arthritis

B. RF

C. Systemic lupus erythematosus (SLE)

D. Juvenile dermatomyositis

E. Kawasaki’s disease

 19. An 18-year-old female is referred to you for hypertension. Basic laboratory studies are normal, and an abdominal ultrasound with renal Doppler is normal. An echocardiogram is performed and thought to be normal, but images are difficult secondary to patient size. The chest x-ray in Figure 3.2. is taken.

Which of the following is the next best diagnostic test to order?

Figure 3.2.

A. Left and right heart catheterization

B. Stress echocardiogram

C. Exercise treadmill test using the Bruce protocol

D. Urine metanephrines

E. Computed tomography scan of the chest

 20. A 38-week-old term infant with CHD is diagnosed with necrotizing enterocolitis (NEC). Which of the following diagnoses is associated with the highest risk of developing NEC in a term neonate?

A. Tetralogy of Fallot

B. Patent ductus arteriosus

C. Truncus arteriosus

D. Tricuspid atresia

E. Complete AV canal

 21. A 3-month-old female infant is brought to the emergency department with tachypnea. Her parents report that she has a history of tiring with feeding, which has been getting progressively worse in the last month. A chest x-ray is obtained and shows marked cardiomegaly. On examination, you hear a 2/6 holosystolic murmur at the apex and axilla. Electrocardiography demonstrates prominent Q-waves in the lateral leads. Which of the following is the most likely diagnosis?

A. ALCAPA

B. Ventricular septal defect

C. Complete AV canal

D. Tetralogy of Fallot

E. Pulmonary hypertension

 22. A 5-year-old male presents to the emergency department following a motor vehicle accident. The attending physician notes that his blood pressure is now 70/40 and that his heart sounds are distant. Which of the following physical exam findings would be consistent with traumatic cardiac tamponade?

A. A third heart sound

B. Neck vein distention

C. A precordial rub

D. A precordial knock

E. Bradycardia

 23. You are seeing a 12-year-old girl in clinic, who was referred to you for cardiomegaly. On examination, you hear distant breath sounds as well as pulsus paradoxus. Her heart rate is 65. She has complained of progressively worsening fatigue over the last 2 months, which she attributes to her recent 20-lb weight gain. Which of the following is the most likely cause of her pericardial effusion?

A. RF

B. Recent isoniazid administration

C. Renal failure

D. Hypothyroidism

E. Purulent pericarditis

 24. Which cardiac defect(s) are most commonly associated with congenital rubella infection?

A. Coarctation of the aorta and tetralogy of Fallot

B. Transposition of the great arteries and atrial septal defect

C. Tetralogy of Fallot only

D. Pulmonary stenosis and PDA

E. Ectopia cordis

 25. A 7-year-old boy presents to your office with exercise intolerance. You note a 3/6 systolic ejection murmur at the left upper sternal border with a widely fixed split S2 and a soft mid-diastolic rumble. Which of the following would you most likely find on further investigation?

A. Evidence of LVH on ECG

B. Qp:Qs = 1.5

C. Accessory left anterior descending coronary artery

D. Peaked P waves on ECG

E. Spontaneous closure of the defect by age 10

 26. A 1-year-old female presents with fever and shock. An echocardiogram reveals a large pericardial effusion; you suspect that the patient has bacterial pericarditis. Which of the following is the most likely organism that will be isolated from pericardial fluid?

A.Haemophilus influenzae

B.Streptococcus pneumoniae

C.Neisseria meningitidis

D.Staphylococcus aureus

E.Escherichia coli

 27. You are seeing a neonate in the ICU who presented with cyanosis. The sonographer has indicated the diagnosis of an aortopulmonary (AP) window with intact ventricular septum and suspects that there is also an interrupted aortic arch. Which type of interrupted arch is most likely for this patient?

A. Type A (interruption distal to the left subclavian artery)

B. Type B (interruption between the left carotid and left subclavian arteries)

C. Type C (interruption between the carotid arteries)

D. Type D (interruption proximal to the innominate artery)

E. All types occur with equal frequency

 28. A 15-year-old female is found to have separate origins of the left anterior descending and left circumflex arteries within the left aortic sinus of Valsalva. Which of the following is true regarding this finding?

A. The patient should be restricted from all athletic activities

B. It is found more commonly in patients with benign syncope

C. It is a known risk factor for sudden death

D. It is more frequent in patients with mitral valve prolapse

E. It does not appear to have any clinical significance

 29. A 30-year-old female with history of tricuspid atresia status post complete Fontan (nonfenestrated) at age 5 years presents with a 2-year history of dyspnea on exertion and cyanosis that is worse when in the standing position. What is the most likely cause of her symptoms?

A. Hepatic arteriovenous malformation (AVM)

B. Vein of Galen malformation

C. Lower extremity AVM

D. Upper extremity AVM

E. Pulmonary AVM

 30. A 25-year-old male presents to your clinic with exertional cyanosis. He has a history of heart block following Mustard palliation of d-TGA and required intravenous pacemaker lead placement. He had an echocardiogram which revealed a small SVC baffle leak with bidirectional shunting. Which of the following is the most appropriate treatment for this patient?

A. Balloon dilation of baffle leak

B. Closure of baffle leak using a device

C. Stent placement in the SVC baffle

D. Stent placement in the IVC baffle

E. Surgical MAZE procedure

 31. You are seeing an 8-year-old female, who had an episode of fainting the previous week while running in gym class. Her mother reports that she was having URI symptoms including fever at the time, but that these have now resolved. You obtain an ECG (Fig. 3.3).

Which of the following is the most likely diagnosis?

Figure 3.3.

A. Long QT syndrome

B. Brugada syndrome

C. Vasovagal syncope

D. Wolff–Parkinson–White (WPW) syndrome

E. Hypertrophic cardiomyopathy

 32. A murmur is heard at a 1-week well child examination. The infant is referred for an echocardiogram, which reveals a well-circumscribed mass in the wall of the left ventricle. What is the most likely diagnosis?

A. Fibroma

B. Myxoma

C. Rhabdomyoma

D. Blood cyst

E. Hemangioma

 33. You see a 5-year-old male with aortic stenosis in follow-up. You note that he has a single S2 heart sound. Which of the following is characteristic of the S2 heart sound in patients with aortic stenosis?

A. The S2 becomes more widely split with inspiration in severe AS

B. The S2 has normal physiologic splitting in patients with mild AS

C. Paradoxical splitting of S2 often occurs with mild AS

D. The pulmonic component of S2 is often decreased with severe AS

E. The S2 is single in mild AS

 34. A 14-year-old male patient is referred to you for a murmur. On history, the patient reports recurrent low-grade fevers, malaise, and a 20-lb weight loss in the last 2 months. On his echocardiogram, you find a pedunculated mass (2 cm × 2 cm) attached to the fossa ovalis in the left atrium. What is the most likely diagnosis?

A. Rhabdomyoma

B. Teratoma

C. Fibroma

D. IVC extension of Wilms tumor

E. Myxoma

 35. A 12-year-old patient with a history of aortic stenosis, status post Ross procedure at the age of 2, presents with chest pain after exercise. Chest radiography is normal. Echocardiography reveals possible wall motion abnormalities in the left ventricle. In addition to other studies, further cardiac imaging studies are planned. Which of the following techniques will be most useful in this patient?

A. Cardiac MR with bright-blood imaging

B. Cardiac MR with dark-blood imaging

C. Cardiac MR with delayed gadolinium imaging

D. Multidetector CT with 3D reconstruction

E. Strain imaging

 36. A 14-year-old male patient is referred to you for a murmur. On examination, you note that he has significant scoliosis, pectus carinatum, and pes planus (flat feet). His height is 190 cm, and his arm span is 210 cm. His aortic sinus of Valsalva measures 45 mm in diameter. His carotid arteries, aortic arch, and descending aorta are normal. There is no significant family history. He admits of being admitted twice in the past with spontaneous pneumothoraces. Which of the following is true regarding this young man’s diagnosis?

A. He likely has Loeys–Dietz syndrome

B. He satisfies the Ghent criteria for Marfan syndrome

C. He should have a repeat echocardiogram in 5 years

D. He does not need an eye examination

E. He needs an ECG to assess for a prolonged QT interval

 37. A 12-year-old male with CHD is noted to have complete AV block. Which of the following is the most likely cardiac diagnosis for this patient?

A. Atrial septal defect

B. D-transposition of the great arteries

C. Polysplenia

D. Asplenia with Tetralogy of Fallot

E. Maternal lupus

 38. An echocardiogram performed on a neonate reveals severe tricuspid valve dysplasia with prolapse and severe mitral valve prolapse (Figure 3.4.). He is ultimately diagnosed with congenital polyvalvular dysplasia. Which of the following is the most likely genetic diagnosis in this patient?

Figure 3.4.

A. Trisomy 18

B. Down syndrome

C. Noonan syndrome

D. DiGeorge syndrome

E. Alagille syndrome

 39. Which of the following genetic syndromes are associated with an increased incidence of partial anomalous pulmonary venous return?

A. Trisomy 18 and Trisomy 21

B. Turner and Noonan

C. Holt–Oram and Marfan

D. Turner and Trisomy 21

E. Noonan and Alagille

 40. A 5-year-old male is diagnosed with WPW syndrome. He is found to have an abnormal echocardiogram. Which of the following forms of CHD is most commonly associated with WPW?

A. Ventricular septal defect

B. Bicuspid aortic valve

C. Tetralogy of Fallot

D. Ebstein’s anomaly

E. Atrial septal defect

 41. You have been following a 2-year-old male with pulmonary stenosis. Which of the following would be a clinical clue that the degree of stenosis has worsened?

A. The murmur peaks earlier

B. The ejection click occurs later

C. The split of S2 becomes wider

D. The “a” wave becomes less prominent

E. S1 becomes more prominent

 42. A 13-year-old girl presents to you for the evaluation of a murmur. The patient is asymptomatic, but does not participate in athletic activity. Her family history is significant for a paternal uncle, grandfather, and great grandfather who had “thick heart muscle.” On examination, she has short stature, a triangular face, pectus excavatum, and a webbed neck. Her heart examination reveals an RV lift and a soft short systolic ejection murmur at the LUSB. What are you most likely to find on her echocardiogram?

A. Bicuspid aortic valve with or without coarctation

B. Discrete supravalvular pulmonary stenosis

C. Thickened pulmonary valve with mild stenosis

D. Bilateral pulmonary branch stenosis

E. Right aortic arch

 43. A 16-year-old male is referred to your clinic. He has a history of recurrent sinusitis for which he has undergone numerous courses of antibiotics. A chest x-ray is performed that shows evidence of dextrocardia. In addition, the stomach bubble is located on the right side of the abdomen. A CT scan of the chest reveals bronchiectasis. Which of the following is the most likely diagnosis?

A. Carney complex

B. DiGeorge syndrome

C. Wiskott–Aldrich syndrome

D. Turner syndrome

E. Kartagener syndrome

 44. You are referred a 5-day-old female infant due to an irregular heart rhythm. There is no significant family history for arrhythmias, sudden death, or CHD. She has an ECG performed prior to seeing you (Fig. 3.5).

Which of the following is the next best course of action?

A. Start the patient on propranolol

B. Urgent cardiac surgical referral

C. Administer a dose of IV adenosine

D. Reassure the parents

E. Check a TSH level

Figure 3.5.

 45. You are consulting on a 17-year-old female in the hospital with a concern for dyspnea on exertion. On examination, she is comfortable. Her S1 and S2 sounds are normal, but there is a harsh 3/6 systolic murmur with a musical quality heard from the sternal border down to the apex. There are no clicks, thrills, or rubs, and diastole is quiet. Just after a PVC that you note on her cardiac monitor, the murmur increases in intensity.
What is the most likely cause of the murmur?

A. Ventricular septal defect

B. Mitral regurgitation

C. Pulmonary stenosis

D. Aortic stenosis

E. Innocent murmur

 46. An outreach echocardiogram performed on a critically-ill 3-day-old male infant reveals ventricular hypertrophy and an abnormal aortic arch. The baby is transported to your institution, and on arrival, the nurse performs four-extremity blood pressure measurements. The findings are as follows:

Right leg: 40/25

Left leg: 42/22

Right arm: 48/27

Left arm: 72/35

Which of the following is the most likely diagnosis?

A. Coarctation of the aorta

B. Coarctation of the aorta with VSD

C. Coarctation of the aorta with aberrant right subclavian artery

D. Truncus arteriosus with pulmonary artery ostial stenosis

E. Coarctation of the aorta with supravalvar mitral ring

 47. You diagnose a 2-year-old male with congenitally corrected transposition of the great arteries (ccTGA or L-TGA). What is this patient most likely to also have on echocardiography?

A. Ventricular septal defect

B. Atrial septal defect

C. LVOT obstruction

D. Tricuspid valve dysplasia

E. Mitral valve dysplasia

 48. A 16-year-old basketball player is referred to you after having an episode of syncope while running during a game. He has a known history of seizures for which he has been treated with anti-epileptic medication. He relays to you that his uncle died suddenly while swimming on vacation at the age of 34 and that his anatomical autopsy was normal. Your patient’s echocardiogram reveals normal ventricular size and function, and normal coronary artery anatomy. An ECG has been performed but is pending. Which of the following is the most likely diagnosis?

A. Brugada syndrome

B. Long QT syndrome

C. Coronary artery vasospasm

D. Benign vasovagal syncope

E. Idiopathic ventricular fibrillation

 49. You are called to perform an echocardiogram on a neonate with cyanosis. The patient is mildly tachypneic with retractions. Pulse oximetry reveals saturations of 60% to 70%. Chest x-ray shows normal heart size with increased pulmonary vascular markings. On examination, you appreciate a loud S2 with no significant murmurs. Echocardiography shows side-by-side great arteries. Which of the following diagnoses 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

 50. A chest x-ray in a neonate reveals dextrocardia, and the stomach bubble is located on the left side. The infant’s cardiac anatomy is most likely to include which of the following?

A. L-TGA

B. D-TGA

C. Aortic stenosis

D. Complete AV canal defect

E. Tetralogy of Fallot

 51. A 2-month-old female with biliary atresia is found to have a murmur on examination. When you see the patient, you note that she has a broad forehead, deep-set eyes, and a pointed chin, which give her face a triangular appearance. She is significantly jaundiced. Auscultation reveals a 2/6 systolic murmur heard best at the left upper sternal border and radiating to the axillae bilaterally. Which of the following is the most likely diagnosis?

A. CHARGE association

B. Williams syndrome

C. Noonan syndrome

D. DiGeorge syndrome

E. Alagille syndrome

 52. A 15-year-old patient with hypertrophic cardiomyopathy is referred to your clinic. You hear a murmur consistent with LV outflow obstruction. Which of the following maneuvers will increase the outflow murmur in this patient?

A. Beta blocker

B. Squatting

C. Isometric handgrip

D. Phenylephrine

E.Amyl nitrate inhalation

 53. A 17-year-old athlete is found to have thickened LV myocardium. Which of the following characteristics supports a diagnosis of hypertrophic cardiomyopathy over “athlete’s heart”?

A. Increased LV end diastolic volume

B. Female gender

C. Symmetric ventricular hypertrophy

D. Normal LA size

E. Mitral inflow E/A = 1.5

 54. A 2-year-old infant presents with dilated cardiomyopathy (DCM). The child was adopted 2 weeks ago from Chile, but birth records report no family history of CHD, cardiomyopathy, or HIV. Which of the following is the most likely infectious cause of DCM in this patient?

A. Chagas disease

B. Human papillomavirus

C. Human immunodeficiency virus

D. Lymphocytic choriomeningitis

E. West Nile virus

 55. A series of studies are undertaken to differentiate between restrictive cardiomyopathy and constrictive pericarditis in a 14-year-old male. Which of the following findings would be more consistent with restrictive cardiomyopathy?

A. “Septal bounce” on echocardiography

B. RVSP > 50 mm Hg on catheterization

C. Normal atrial size on echocardiography

D. RVEDP = LVEDP on catheterization

E. Normal pulmonary vascular resistance index on catheterization

 56. You are seeing an 8-year-old female in clinic with mitral valve regurgitation from a prior episode of RF. How would you ask the patient to be positioned in order to best hear her murmur?

A. Sitting

B. Sitting-up and leaning forward

C. Standing

D. Right lateral decubitus

E. Left lateral decubitus

 57. You are seeing a 12-year-old male patient in clinic, whose father and grandfather have Brugada syndrome. His baseline ECG is normal. What is the most appropriate next test to perform in this patient?

A. Exercise ECG

B. Stress echocardiography

C. Challenge with IV epinephrine

D. Repeat ECG with high lead placement of leads V1 and V2

E. 24-hour Holter monitor

 58. You are seeing a 2-year-old patient with uncorrected CHD. Of the following potential diagnoses, which one portends the highest risk of developing endocarditis?

A. Patent ductus arteriosus

B. Rheumatic mitral valve disease

C. Bicuspid aortic valve

D. Tetralogy of Fallot

E. Hypertrophic cardiomyopathy

 59. A 2-month-old male is referred to you for a murmur. The patient has already been referred to medical genetics for a history of low birth weight, hypotonia, and microcephaly. On examination, you note the patient has hypertelorism, epicanthal folds with down-slanting palpebral fissures, a flat nasal bridge, micrognathia, single palmar creases, and a high-pitched cry. Which of the following are you most likely to find on echocardiography?

A. Coarctation of the aorta

B. Transposition of the great arteries

C. Ventricular septal defect

D. DORV

E. Ebstein’s anomaly

 60. You are referred a 6-month-old female with a history of atrial septal defect. On examination, you note that the patient also has a missing thumb on her right hand. The patient’s father has a similar missing thumb. Laboratory values including a CBC and electrolytes are normal. Genetic analysis reveals a mutation in the TBX5 gene. Which of the following is the most likely diagnosis?

A. Holt–Oram syndrome

B. Thrombocytopenia-absent radii (TAR) syndrome

C. LEOPARD syndrome

D. CHARGE association

E. Rubenstein–Taybi syndrome

 61. A 12-year-old male is suspected of having restrictive cardiomyopathy. Which of the following echocardiographic findings is most helpful in distinguishing restrictive cardiomyopathy from constrictive pericarditis?

A. Presence of a “septal bounce”

B. Severe bilateral atrial enlargement

C. Left ventricular EF of 20%

D. Severe left ventricular enlargement

E. Marked changes in mitral inflow velocity with inspiration

 62. A 2-year-old patient is referred to you with post-axial polydactyly, large atrial septal defect, dwarfism, and fingernail dysplasia. Which of the following is the most likely genetic syndrome in this patient?

A. Holt–Oram syndrome

B. Ellis–van Creveld syndrome

C. DiGeorge syndrome

D. Alagille syndrome

E. Down syndrome

Answers

1. ANSWER: D  Up to 95% of patients with Trisomy 18 will have some form of CHD, including polyvalvular dysplasia, ventricular septal defects, outlet abnormalities (Tetralogy of Fallot, DORV), and AV canal defects. Patients with Down syndrome have a 40% chance of having CHD. Approximately 25% of Turner syndrome patients will have CHD, as will 80% of patients with 22q11 deletion (DiGeorge syndrome, Velocardiofacial syndrome). Patients with 5p-, or cri-du-chat syndrome, have a 20% risk of having CHD.

2. ANSWER: B  The double aortic arch commonly presents in infancy or in the first few months of life. The presentation will be earlier if both arches are widely patient and is later if one of the arches is hypoplastic. Patients with (C) do not have a technical vascular ring and rarely require treatment. The ring described in (A) is the most common arch anomaly, occurring in 0.5% of the general population, but does not commonly cause symptoms in infancy. Left pulmonary artery slings will result in anterior indentation of the esophagus on barium swallow, but typically present with respiratory distress and stridor in the first few years of life. Persistent fifth aortic arch is extremely rare and may present incidentally on an imaging study, incidentally in conjunction with other CHD or a pattern similar to coarctation.

3. ANSWER: D  The murmur described is that of dynamic outflow tract obstruction. This murmur is typically increased by anything that increases the gradient. Thus, it will be louder with exercise, standing (particularly after squatting), and with the straining portion of the Valsalva maneuver. Systemic vasodilation with nitroglycerine or administration of isoproterenol will also increase the gradient. Stimulation of the α-adrenergic system will increase the afterload pressure, decreasing the gradient and thus the intensity of the dynamic outflow murmur.

4. ANSWER: A  The characteristic cardiac tumor in patients with tuberous sclerosis is the rhabdomyoma. These patients are often asymptomatic, but may present with symptoms of obstruction if the tumors are large. The vast majority of these tumors will resolve without intervention. Surgical excision can be performed in patients with hemodynamic compromise or arrhythmia secondary to their rhabdomyomas.

5. ANSWER: C  Approximately 30% to 50% of patients with supravalvar aortic stenosis have Williams syndrome. Patients with supravalvar aortic stenosis will often have a higher blood pressure in the right arm due to the Coanda effect of blood streaming at high velocities. There may also be stenosis of aortic arch branches affecting blood pressure in the upper extremities.

6. ANSWER: B  The typical friction rub is loudest when the heart is closest to the chest wall; this occurs when the patient leans forward, kneels, and inspires. The absence of a rub does not exclude pericarditis, especially in the presence of a large effusion.

7. ANSWER: B  The major criteria for RF may include erythema marginatum, carditis, chorea, polyarthritis, and subcutaneous nodules. Minor criteria include fever, arthralgias, prolongation of the PR interval on ECG, and elevated acute phase reactants (CrP, ESR). Migratory polyarthritis is the most common manifestation, affecting 40% to 70% of cases of RF. Carditis is also relatively common, affecting 30% to 60% of patients. Chorea is present in 10% to 30% of patients, while the two dermatologic findings occur in <10% of patients each.

8. ANSWER: B  The most common viral causes of myocarditis are adenovirus and the enteroviruses, most commonly the Coxsackie viruses. CMV, parvovirus, influenza A, HSV, EBV, HIV, and RSV are other rare viral causes of myocarditis.

9. ANSWER: A  Patients with DiGeorge syndrome have an increased risk of conotruncal abnormalities compared to the other syndromes listed, particularly interrupted aortic arch and truncus arteriosus. The most common type of interrupted aortic arch in these patients is the type B interruption, between the second carotid and the ipsilateral subclavian artery.

10. ANSWER: C  The click described is an aortic ejection click, heard commonly in patients with bicuspid aortic valves. If accompanied by a suprasternal notch thrill, the stenosis is more likely to be valvular than subvalvular or supravalvular. A pulmonary valve ejection click may present similarly but with respiratory variation (louder with expiration). A nonejection systolic click may be heard in early systole in mitral valve prolapse with the patient standing, but will occur later in systole with squatting or supine position.

11. ANSWER: A  The murmur described is a Still’s murmur, a common innocent systolic murmur of childhood. Chest x-ray and electrocardiography are normal. The murmur is best heard when the patient is supine.

12. ANSWER: A  Pericardiocentesis should be performed in patients with clinical tamponade (hypotension, low cardiac output, or pulsus paradoxus >10 mm Hg), and patients with bacterial pericarditis, immunocompromised hosts, or for diagnosis when the etiology of an effusion is unclear. Asymptomatic effusions in patients with known diagnoses do not require pericardiocentesis unless in hemodynamic compromise. The diagnosis of viral pericarditis is not by itself an indication. In patients with bacterial pericarditis, the fluid may often be too thick to drain or may be loculated within the pericardium. In this case, a surgical intervention (pericardial window, pericardiectomy) should be considered.

13. ANSWER: B  Venous murmurs are more often benign and heard best over the upper chest. They change with head position or compression of the jugular vein, and vary with respiration. The murmur is often heard loudest in the standing position.

14. ANSWER: A  The patient is presenting with critical aortic stenosis, with a systolic ejection murmur, a prominent LV impulse, and poor peripheral perfusion. The current standard of care for these patients is a balloon aortic valvuloplasty to be performed in the catheterization laboratory. Use of an afterload reducer such as milrinone will result in worsening of the gradient.

15. ANSWER: E  MRI is being used more commonly in the evaluation of patients, particularly in patients for whom RV function requires investigation. Currently, the use of MRI in patients with pacemakers, AICDs, or permanent pacemaker leads is relatively contraindicated. Some centers will image patients with intra-vascular stents, but only after they have been in place for several weeks (or believed to be immobile). The use of MRI in patients with occluding devices, including those made by Amplatzer, Gore, STARFlex, or CardioSEAL, is permitted.

16. ANSWER: A  Common causes of left axis deviation in infants include the AV canal defects (complete or partial) and tricuspid atresia, with or without transposition of the great vessels. Many patients with AV canal defects may have a more superior axis (−60 to −100 degrees). Right axis deviation may be indicative of right ventricular hypertrophy in certain patients.

17. ANSWER: B  When presented with a teenage patient with a persistent sinus tachycardia, common things to consider may include hyperthyroidism, substance abuse, pheochromocytoma, autonomic dysfunction, and tachyarrhythmias. Patients with eating disorders more commonly present with bradycardia. Hyperthyroidism is an important cause of resting tachycardia in a teenager and may present with heat-intolerance, sweating, palpitations, weight loss, insomnia, and irritability. Pheochromocytoma will present with episodic symptoms of sweating hypertension, and tachycardia. If any dysmorphisms are present, consideration should be given for ordering a karyotype. Diabetes can produce an autonomic neuropathy that may involve an inappropriate tachycardia.

18. ANSWER: B  The findings listed above are common in RF. The nonpruritic lesions on her trunk refer to erythema marginatum, one of the major criteria for RF. Other major criteria include carditis, chorea, polyarthritis, and subcutaneous nodules. Minor criteria include fever, arthralgias, prolongation of the PR interval on ECG, and elevated acute phase reactants (CrP, ESR).

19. ANSWER: E  The chest radiograph displays rib notching bilaterally, as well as the “figure of 3” sign in the upper chest. These are relatively specific for the diagnosis of coarctation of the aorta. Urine metanephrines may be ordered if one is concerned for a pheochromocytoma. Pheos may present with intermittent hypertensive, flushing, tachycardia and sweating episodes. If the aortic arch is not adequately visualized by transthoracic echocardiogram, then a stress echocardiogram is unlikely to provide further information.

20. ANSWER: C  There is a higher risk of developing NEC in patients with truncus arteriosus and hypoplastic left heart syndrome. This is thought to be secondary to the relatively tenuous balance between systemic and pulmonary blood flow in these patients before surgical palliation or repair. Changes in physiology can markedly reduce the amount of systemic flow (due to preferential pulmonary flow) and cause gut ischemia and NEC.

21. ANSWER: A  A 3-month-old infant presenting with cardiomegaly, a murmur consistent with mitral regurgitation, and lateral ischemia has ALCAPA until proven otherwise. The relative decrease in pulmonary pressures over the first few months of life causes a continual decrease in coronary flow, ultimately resulting in ischemia of the left coronary circulation. This results in LV dilation and dysfunction, with ischemia of the anterolateral papillary muscle and subsequent mitral regurgitation. Patients with VSD or complete AV canal will typically present at this age with pulmonary over-circulation. Patients with pulmonary hypertension will have a loud S2 heart sound and may have prominent right-sided forces on ECG.

22. ANSWER: B  The patient is presenting with Beck’s triad, including hypotension, muffled or distant heart sounds, and jugular venous distension, indicative of cardiac tamponade. Patients will be tachycardic and will show evidence of pulsus paradoxus.

23. ANSWER: D  Pericardial effusions can result as a secondary process of many diseases, including RF, lupus, and renal failure, or secondary to a lupus-like reaction to a medication like isoniazid or hydralazine. With this clinical vignette, the patient has a significant effusion with tamponade physiology (pulsus paradoxus is present), but has an unexpected bradycardia. In addition to the recent weight gain and fatigue, this is highly suggestive of hypothyroidism.

24. ANSWER: D  Pulmonary stenosis and patent ductus arteriosus are the two most common cardiac diagnoses in patients with congenital rubella syndrome. Patients may also present with ventricular septal defects.

25. ANSWER: D  The physical examination findings are consistent with an atrial septal defect with a large left to right shunt (as indicated by the diastolic flow rumble). This will present more commonly with right-sided enlargement and is unlikely to close spontaneously. The expected right atrial enlargement caused the peaked p-waves seen on ECG.

26. ANSWER: D  The most common cause of bacterial pericarditis is S. aureus, accounting for about half of the cases. The other two most common causes are H. influenzae and S. pneumoniae. Patients will present with fever, dyspnea, tachypnea, and tachycardia out of proportion to the fever. They often present in extremis with decreased cardiac output.

27. ANSWER: A  Type A interruption of the aortic arch occurs more commonly in patients with AP septation defects, accounting for around 1/3 of patients with interrupted arch. Type B interruptions occur more commonly in patients with DiGeorge syndrome. Type C is much more rare than types A and B, accounting for <1% of patients with interrupted arch.

28. ANSWER: E  The finding of independent origins of the LAD and left circumflex coronary arteries from the left aortic sinus is a benign finding that does not have any clinical significance.

29. ANSWER: E  Pulmonary AVMs occur commonly in patients following Fontan procedures. Dyspnea on exertion and orthostatic or exertional cyanosis in Fontan patients can occur due to right-to-left shunting at a widely patent fenestration or can be due to right-to-left shunting from pulmonary AVMs. These most commonly occur in the basal region of the lung.

30. ANSWER: B  Patients with a history of Mustard palliation may present with either SVC or IVC baffle obstruction, or with baffle leaks in both the SVC and the IVC segments. If large enough, these can cause significant right to left shunting with exercise and produce exertional cyanosis. The most appropriate treatment of a symptomatic baffle leak is an attempted closure, either by surgery or by catheterization. Recent advances in septal occluding devices have allowed for many of these patients to have their leaks closed in the catheterization laboratory with success. Stent placement is indicated in patients with baffle obstruction.

31. ANSWER: B  This ECG shows characteristic down-sloping ST-segment changes in leads V1 and V2, suggestive of Brugada syndrome. This ECG pattern is called the “coved-type” ECG pattern and is the most common ECG pattern in this syndrome.

32. ANSWER: C  The most common type of cardiac tumor in children, and especially infants, is the rhabdomyoma. Rhabdomyomas are well-circumscribed, noncapsulated, intramural or intracavitary nodules that can occur in any location in the heart, most typically the ventricles. They may occur singly, but often several are found in the same patient.

33. ANSWER: B  In patients with mild or moderate aortic stenosis, there is normal physiologic splitting of the S2 sound. With severe aortic stenosis, there may be a single heart sound due to prolongation of left ventricular ejection time. In extremely severe cases, there may be paradoxical splitting of the S2 sound.

34. ANSWER: E  Patients with myxomas often present with a classic triad of symptoms: cardiac obstruction (80% of patients), embolism (~70% of patients), and systemic illness (~60% of patients). The masses are most often pedunculated and friable and occur most commonly in the left atrium. Myxomas can be found attached to the foramen ovale or either ventricle.

35. ANSWER: C  Cardiac MR imaging with delayed gadolinium imaging is ideal to assess for infarcted myocardium. During first-pass perfusion assessment with gadolinium, normal or viable myocardium will exhibit gradual signal enhancement and subsequently, clearance of the contrast agent. New or old infarcted myocardium exhibits decreased signal (hypoenhancement) on first-pass images and hyperenhancement on delayed images. This is particularly useful in patients with a history of Kawasaki’s disease, anomalous coronary arteries, and high-risk patients who have undergone prior coronary re-implantation with the Ross procedure or arterial switch procedure. Dark-blood imaging, also called spin-echo, allows for suppression of blood signal. This is useful for anatomical diagnosis of ventricular and atrial morphology and vessel wall abnormalities. Bright-blood imaging, also called gradient-echo imaging, allows for qualitative and quantitative assessment of ventricular and valvular function.

36. ANSWER: B  The Ghent criteria for Marfan syndrome are detailed in nature and include skeletal, ocular, cardiovascular, pulmonary, skin, and spinal criteria. This patient has four major skeletal criteria (scoliosis, pectus, pes planus, and arm span > height), one major cardiovascular criterion (enlarged aorta), and a minor pulmonary criterion (history of spontaneous pneumothorax). He therefore satisfies the Ghent criteria. He should be followed with serial echocardiography for the remainder of his life and may be referred for surgery. He should have an eye examination. The normal extra-aortic vessels indicate that we are not likely dealing with Loeys–Dietz syndrome.

37. ANSWER: C  Patients with polysplenia, or bilateral left-sidedness, often have other anatomical findings including dextrocardia, ventricular inversion, and an interrupted IVC. Owing to under-development of right-sided structures in polysplenia, nodal, and conduction tissue is often affected in these patients, placing them at a high risk for complete AV block. This occurs more commonly in patients with polysplenia than patients with asplenia.

38. ANSWER: A  The patient has been diagnosed with congenital polyvalvular dysplasia, a valvular developmental disorder that results in thickened leaflets with significant regurgitation and prolapse. It typically involves two or more valves, but can involve all four valves of the heart. This disorder most commonly occurs in patients with Trisomy 18. In fact, at least 90% of patients with Trisomy 18 have some form of valvular dysplasia. Many patients will have an associated ventricular septal defect or other congenital lesion.

39. ANSWER: B  Patients with Turner syndrome and Noonan syndrome have a higher incidence of partial anomalous pulmonary venous return. Additionally, patients with visceral heterotaxy, polysplenia, and asplenia have a high incidence of anomalous pulmonary venous return.

40. ANSWER: D  Up to 30% of patients with Ebstein’s anomaly will have WPW syndrome, with left-axis deviation and pre-excitation, suggesting a right-sided accessory pathway.

41. ANSWER: C  With worsening of pulmonary stenosis, the systolic murmur peaks later in systole, and the split of the S2 sound widens (the P2 sound is delayed). Once there is severe stenosis, the murmur spills over into diastole, and the S2 sound may become inaudible.

42. ANSWER: C  The family history is consistent with Noonan syndrome, of whom up to 85% of patients may have CHD (most commonly pulmonary valvular stenosis, ASD, partial AV canal, coarctation, and hypertrophic cardiomyopathy). The right ventricular lift and short systolic ejection murmur suggest mild pulmonary valve stenosis, likely secondary to a thickened pulmonary valve. Bicuspid aortic valves and coarctation are common in Turner syndrome, and supravalvular pulmonary and aortic stenosis are common in Williams syndrome. Pulmonary branch stenosis is seen commonly in Alagille syndrome.

43. ANSWER: E  Kartagener syndrome is an autosomal recessive disorder including situs inversus, bronchiectasis, and immotility of cilia in the respiratory tract. As a result, these patients have poor mucociliary clearance, increasing their risk of having lower and upper respiratory infections, particularly sinusitis, bronchitis, pneumonia, and otitis. Patients with DiGeorge syndrome may have an increased risk of infection secondary to T-cell dysfunction. Wiskott–Aldrich is an X-linked disorder characterized by thrombocytopenia, eczema, and immune deficiency. Carney complex is an autosomal dominant syndrome of skin hyperpigmentation, endocrine overactivity, and myxomas of the skin and heart.

44. ANSWER: D  The ECG demonstrates premature atrial contractions (PACs). These are typically benign and can occur frequently in neonates. If present in the neonatal period, they most commonly resolve within the first few months of life.

45. ANSWER: D  The murmur of aortic stenosis increases after a premature ventricular contraction (PVC). This is secondary to an increased gradient across the aortic valve, produced by enhanced diastolic filling during the compensatory pause of the PVC.

46. ANSWER: C  With coarctation, the blood pressures in the legs are typically lower than those in the upper extremities. A low blood pressure in the right arm (but not the left arm) suggests that the right subclavian artery originates distal to the coarctation, as occurs with an aberrant right subclavian artery.

47. ANSWER: A  Approximately 80% of patients with congenitally corrected transposition will have a ventricular septal defect. These defects are typically perimembranous and subpulmonary and are due to atrial and septal malalignment. LVOT (subpulmonary ventricular outflow tract) obstruction occurs in 30% to 50% of patients. Morphologic tricuspid valve dysplasia is common as well in cc-TGA.

48. ANSWER: B  In the presence of a normal coronary artery origins and a normal ventricular wall thickness, the most likely cause of death in this patient is long QT syndrome. The history of seizures and syncope are important, and the history of a drowning in the family is also more likely to implicate long QT syndrome. Any episode of syncope during maximal exertion requires evaluation for potential pathology.

49. ANSWER: A  Owing to variations in the location of the VSD and great arteries, DORV can present in several different ways. This patient is presenting with cyanosis but increased pulmonary vascular markings. If the VSD were subaortic, there typically will not be cyanosis. If there were pulmonary stenosis, the pulmonary vascular markings should be normal or decreased. This patient therefore most likely has the Taussig–Bing anomaly, DORV with side-by-side great arteries and a subpulmonary VSD.

50. ANSWER: A  This patient is presenting with dextrocardia and situs solitus. The most common form of dextrocardia in most reported series involves AV and VA discordance (congenitally corrected transposition or L-TGA) and a left anterior aorta. There is an elevated risk for associated cardiac defects with this form of dextrocardia, including pulmonary stenosis and VSD.

51. ANSWER: E  Alagille syndrome is an autosomal dominant disorder that presents with particular facial features including a triangular-shaped face, broad forehead, and deep-set eyes. They tend to have butterfly vertebrae, a paucity of bile ducts, and many will require liver transplantation. The most common cardiac manifestations include peripheral pulmonary stenosis and Tetralogy of Fallot.

52. ANSWER: E  The murmur of obstruction heard in HCM will typically be increased with exercise, standing, and with Valsalva maneuver. Increasing the systemic afterload pressure (hand-grip, phenylephrine) will decrease the gradient and thus the intensity of the dynamic outflow murmur. Amyl nitrate is a potent vasodilator, and thus will decrease afterload and increase the gradient, increasing the intensity of the murmur.

53. ANSWER: B  The differentiation between HCM and “athlete’s heart” can be difficult. Factors that favor the diagnosis of HCM include the presence of irregular hypertrophy (as opposed to pure concentric hypertrophy), normal-sized LV diastolic dimensions, left atrial enlargement, abnormal ECG, abnormal LV diastolic function, family history of HCM, and female gender. A test of deconditioning can be performed, after which the LV thickness will resolve in those with the diagnosis of “athlete’s heart.”

54. ANSWER: A  A severe form of myocarditis can be a complication of Chagas disease, caused by Trypanosoma cruzi. Chagas is endemic throughout much of Latin and South America, but is rarely seen in the United States except in recent immigrants.

55. ANSWER: B  In restrictive cardiomyopathy, the RVSP is often >50 mm Hg, as opposed to constrictive pericarditis, where it is typically <50 mm Hg. The other options, including the presence of a septal bounce, normal atrial size, equal RVEDP and LVEDP, and normal pulmonary vascular resistance index are more typical of constriction. Patients with restrictive cardiomyopathy will have significantly enlarged atria and will rarely show changes in Doppler flow velocities with inspiration and expiration.

56. ANSWER: E  The murmur of rheumatic heart involvement of the mitral valve is typically high-pitched, holosystolic, heard best at the apex and radiating to the left axilla. The murmur will be heard best at the end of expiration while the patient is lying in the left lateral decubitus position.

57. ANSWER: D  To complete a thorough ECG evaluation for Brugada syndrome, repeating an ECG with “high-lead” placement of leads V1 and V2 is indicated. This involves moving the two leads up one intercostal space, in an attempt to bring out characteristic changes in the J-point and ST segments of leads V1 and V2.

58. ANSWER: D  Any cyanotic heart disease will provide an increased risk of developing endocarditis, including Tetralogy of Fallot, single-ventricle physiology, and transposition of the great arteries. Patients with prosthetic valves and with systemic-pulmonary artery shunts are also at increased risk. Answers A, B, C, and E are all associated with a moderate risk, but not as high as patients with cyanotic CHD.

59. ANSWER: C  The clinical vignette is describing a patient with cri-du-chat syndrome (Lejeune’s syndrome), caused by a deletion of the short arm of chromosome 5 (5p-). The most common cardiac manifestations of cri-du-chat are VSDs, ASDs, PDAs, and Tetralogy of Fallot.

60. ANSWER: A  Holt–Oram syndrome is an autosomal dominant disorder caused by mutations of the TBX5 gene. Patients most often present with abnormalities of the carpal bones of the wrist, which can include a malformed or missing thumb. Approximately 75% of patients have cardiac manifestations, with the most common form being atrial septal defects.

61. ANSWER: B  The atria in constrictive pericarditis are either normal or very mildly enlarged, as opposed to restrictive cardiomyopathy, where they tend to be severely enlarged, often larger than their respective ventricles. Systolic function is often normal or mildly decreased in both entities. The presence of a septal bounce or marked changes in mitral velocities with inspiration and expiration are suggestive of constrictive pericarditis.

62. ANSWER: B  Ellis–van Creveld syndrome occurs most commonly among the Pennsylvania Amish community and includes skeletal and ectodermal dysplasias, including short stature, short limbs, hypoplastic or dysplastic fingernails, post-axial polydactyly, and neonatal or small teeth. It is caused by mutations in the EVC and EVC2 genes on chromosome 4. Over half of these patients have CHD, of who most have a large atrial septal defect or common atrium.