Cardiology Intensive Board Review, 3 ed.

Adult Congenital Heart Disease

Luke J. Burchill

Adult Congenital Heart Disease Source Material

Published guidelines for the management of adult congenital heart disease (ACHD) patients provide an excellent overview of ACHD and are a rich source of questions for the cardiology boards.15 The questions in this section relate directly to existing guidelines for the care of ACHD patients, with particular emphasis given to the American Heart Association (AHA) guidelines.


1.A 55-year-old woman with a history of unrepaired ventricular septal defect (VSD) and Eisenmenger physiology presents to your clinic. Her most recent hemoglobin measured 17.5 g/dL (11.5 to 15.0), hematocrit 55% (36 to 46), mean corpuscular volume (MCV) 76 (83 to 99), and platelet count 140 × 103 cells/μL (150 to 400). She reports New York Heart Association class III limitations with increasing fatigue and infrequent headaches over the last 6 months. Blood pressure (BP) 110/70 mmHg, heart rate (HR) 70 BPM, and regular, O2 saturation 77% on room air. Cardiac examination reveals peripheral clubbing and cyanosis, a parasternal heave, loud P2, and a murmur of tricuspid regurgitation (TR). Electrocardiogram (ECG) shows sinus rhythm. She has had repeat phlebotomy for treatment of presumed hyperviscosity syndrome but does not feel any better. What of the following options is the most appropriate next step in management?

a.Phlebotomy should continue until symptoms improve.

b.Refer for heart–lung transplantation.

c.Measure serum erythropoietin.

d.Commence a pulmonary vasodilator.

e.Obtain iron studies.

2.A 25-year-old man presents to your clinic with 48-hour history of documented fever and chills. He has a history of a “hole in the heart” and examination reveals a 4/6 systolic murmur heard loudest at the lower left sternal edge. A restrictive muscular VSD is confirmed on echocardiogram. Which of the following is the most appropriate next step?

a.Oral antibiotics

b.Intravenous (IV) antibiotics

c.Blood cultures

d.Transesophageal echocardiogram

e.Cardiac surgery consult

3.Blood cultures are positive for Streptococcus viridans and the patient is treated for infective endocarditis (IE). A small mobile echodensity is noted adjacent to the VSD. At clinic review 3 months later he is much improved, repeat blood cultures are negative, and transesophageal echocardiography (TEE) is negative for vegetations. The patient asks whether his VSD should now be closed. What is the best answer?

a.Closure is indicated in those with a VSD complicated by IE.

b.VSD closure is NOT indicated in those with a VSD complicated by IE.

c.VSD closure is only indicated in the presence of a significant shunt (Qp/Qs, pulmonary to systemic blood flow ratio ≥2.0).

d.VSD closure is only indicated in the presence of a significant shunt accompanied by symptoms.

4.For which of the following conditions is IE prophylaxis not required prior to extensive dental procedures (more than one option may be correct)?

a.Ebstein anomaly without prior intervention

b.4 weeks following percutaneous closure of a secundum atrial septal defect (ASD)

c.Mechanical aortic valve replacement (AVR) for bicuspid aortic valve disease

d.Eisenmenger syndrome

e.Tetralogy of Fallot (TOF) with residual VSD at the site of prior surgical repair

5.With which of the following adult congenital heart conditions can the following ECG tracing be seen (Fig. 9.1)?

a.Primum ASD

b.Congenitally corrected transposition

c.Ebstein anomaly


e.Coarctation of the aorta

Figure 9.1

6.Which of the following is an absolute contraindication to pregnancy?

a.Surgically corrected transposition of great arteries

b.Congenitally corrected transposition of great arteries

c.Ebstein anomaly

d.Eisenmenger syndrome

e.Status post Fontan operation

Questions 7 to 11

Match the following conditions with their corresponding surgical procedures. There may be more than one answer for each question.

7.Pulmonary atresia

8.D-transposition of great vessels

9.Tricuspid atresia

10.Congenitally corrected transposition of the great arteries

11.Aortic stenosis



c.Senning or Mustard

d.Arterial switch



g.None of the above

Questions 12 to 16

Match the following disease conditions with their gender preponderance.



14.Bicuspid aortic valve

15.Coarctation of the aorta

16.Pulmonary atresia with an intact ventricular septum

a.Predominantly male

b.Predominantly female

c.Equal preponderance

Questions 17 to 21

Match the following cardiac catheterization still-frame slides (Figs., and 9.6) to their respective diagnoses.

17.Figure 9.2

18.Figure 9.3

19.Figure 9.4

Figure 9.2

Figure 9.3

20.Figure 9.5

21.Figure 9.6

a.Coarctation of the aorta

b.Patent ductus arteriosus (PDA)

c.Hypertrophic cardiomyopathy

d.Pulmonic stenosis


Figure 9.4

Figure 9.5

Questions 22 to 26

Match the physical examination findings with the corresponding adult congenital heart disorder.

22.Right ventricular (RV) lift with a loud systolic ejection murmur along the left sternal border, with a single S2

23.Systolic ejection click, loud S1, holosystolic murmur, split S2 and hepatomegaly

24.Weak or delayed femoral arterial pulses, harsh systolic ejection murmur in the back, and a systolic ejection click in the aortic area

25.Cyanosis, digital clubbing, loud P2, and a variable Graham Steell murmur

Figure 9.6

26.Wide pulse pressure, prominent left ventricular (LV) impulse, and a continuous machinery murmur enveloping S2

a.Eisenmenger syndrome

b.Coarctation of the aorta


d.Ebstein anomaly


Questions 27 to 31

Match the following congenital defects with their associated disease conditions. (more than one may apply)

27.Ostium primum ASD

28.Noonan syndrome

29.Coronary sinus ASD

30.Williams syndrome

31.Sinus venosus ASD

a.Supravalvular aortic stenosis

b.Supravalvular pulmonic stenosis

c.Cleft mitral valve

d.Anomalous pulmonary venous drainage

e.Persistent left superior vena cava (SVC)

Questions 32 to 36

Match the characteristic chest radiography findings with the corresponding congenital disorder.

32.Prominent central pulmonary arteries (PAs) (possible calcifications) and peripheral pruning

33.Right aortic arch, RV enlargement, and a “boot-shaped” heart

34.Marked cardiomegaly, severe right atrial (RA) enlargement, and normal lung fields

35.Posterior rib notching and a “reverse E” or “3” sign

36.Pulmonary plethora, prominent ascending aorta, proximal PA dilatation, and opacity at the confluence of the aortic knob and descending aorta

a.Eisenmenger syndrome

b.Coarctation of the aorta


d.Ebstein anomaly


Questions 37 to 41

Match the following congenital cardiac disorder with the characteristic transthoracic echocardiogram (TTE) finding (Figs., and 9.11).

37.Bicuspid aortic valve

38.Cor triatriatum

39.Ostium primum ASD

40.Quadricuspid aortic valve

41.Subaortic valve stenosis

a.Figure 9.7

b.Figure 9.8

c.Figure 9.9

d.Figure 9.10

e.Figure 9.11

Figure 9.7

Figure 9.8

Figure 9.9

Figure 9.10

Figure 9.11

Intracardiac Shunts

42.Which of the following are associated with patent foramen ovale (PFO)?



c.Decompression sickness

d.Paradoxical embolism & stroke

e.All of the above

43.A 25-year-old man is referred to you for an abnormal heart sound. The patient is asymptomatic and very active. BP is 130/50 mmHg. He has a continuous murmur at the left upper sternal border. A TTE reveals a small PDA with mildly dilated left atrium (LA) and mildly dilated LV but normal RV size and normal pulmonary pressures. How would the patient be best managed?

a.Ligation or percutaneous closure of the PDA

b.Repeat TTE in 1 year

c.Stress echocardiography to determine LV enlargement or dysfunction postexercise

d.Pulmonary vasodilator


44.Which of the following is most commonly associated with a sinus venosus ASD?

a.Coarctation of the aorta

b.Bicuspid aortic valve

c.Anomalous right pulmonary venous connection

d.Inlet VSD

e.Persistent left SVC

45.The best echocardiographic scan plane for demonstrating a secundum ASD is

a.apical four-chamber view.

b.parasternal long-axis view.

c.parasternal short-axis view.

d.subcostal four-chamber view.

e.suprasternal long-axis view.

46.Review the image taken at the time of percutaneous closure of an intracardiac shunt in a 25-year-old patient (Fig. 9.12). Which of the following defects was closed in this patient?

a.Primum ASD

b.Secundum ASD

c.Sinus venosus ASD

d.Unroofed coronary sinus

e.Atrioventricular septal defect (AVSD)

Figure 9.12

47.Secundum ASDs may be associated with

a.pulmonary hypertension.

b.mitral valve prolapse.

c.partial anomalous pulmonary venous connection.

d.pulmonic stenosis.

e.all of the above.

48.Which type of VSD is demonstrated in Figure 9.13?

a.Type 1/supracristal

b.Type 2/perimembranous

c.Type 3/inlet

d.Type 4/muscular

49.Percutaneous VSD closure is approved by the U.S. Food and Drug Administration for which type of VSD?

a.Type 1/supracristal

b.Type 2/perimembranous

c.Type 3/inlet

d.Type 4/muscular

e.None: Surgery is the only approved treatment for VSD closure

Figure 9.13

Left-Sided Lesions

50.What is the most common coexisting congenital anomaly in patients with coarctation of the aorta?

a.Cleft mitral valve

b.Bicuspid aortic valve

c.Ebstein anomaly



51.A 20-year-old man is referred for further evaluation of hypertension. He has remained hypertensive despite a 12-week trial of β-blocker treatment. Examination reveals a right upper extremity BP of 150/100 mmHg and a right lower extremity BP of 130/90 mmHg. HR is 88 bpm. There is brachial– femoral pulse delay. The rest of the physical and neurologic examinations are within normal limits. A TTE confirmed a diagnosis of coarctation of the aorta, with a maximum gradient of 30 mmHg. He is referred for cardiac catheterization. Intervention for coarctation is recommended when the coarctation gradient is greater than which of the following?

a.10 mmHg

b.20 mmHg

c.40 mmHg

d.60 mmHg

e.None of the above; indications for intervention in coarctation are determined by symptoms and not the coarctation gradient

52.Which of the following is the most common coronary artery anomaly?

a.Bland-Garland-White syndrome (left main coronary arising from the PA)

b.Coronary arteriovenous fistula

c.Left circumflex artery arising from the right coronary artery

d.Left coronary artery arising from the right sinus of Valsalva

e.Coronary cameral fistula

53.Which of the following statements about coronary arteriovenous fistula is true?

a.The left coronary artery is most commonly involved.

b.The fistula most commonly empties into the LV.

c.Despite the success of surgical closure, the prognosis is still poor.

d.Spontaneous closure rarely occurs.

e.A large right-to-left shunt may cause congestive heart failure (CHF).

54.Which of the following differentiates valvular aortic stenosis from subvalvular aortic stenosis?

a.Male preponderance

b.Surgical risk of repair

c.Dilatation of the ascending aorta

d.Aortic regurgitation

e.Valvular calcification

55.Echocardiography in a 20-year-old asymptomatic man reveals a subaortic membrane with a peak gradient of 20 mmHg. The aortic valve remains mobile, but there is associated mild to moderate aortic valve insufficiency. LV size is normal ejection fraction is 60%. What should you advise this patient?

a.There is no indication for intervention at this time.

b.Surgical resection of the membrane and debridement of the aortic valve to reduce aortic regurgitation is indicated.

c.Transluminal balloon dilatation is the best treatment option in this case.

d.AVR and membrane resection is indicated.

56.The peak age range for surgical intervention for patients with a bicuspid aortic valve is

a.10 to 20 years.

b.20 to 40 years.

c.40 to 60 years.

d.60 to 80 years.

Right-Sided Lesions

57.A 45-year-old man with known Ebstein anomaly seeks your advice with regard to optimal management. He is asymptomatic and has an active lifestyle without any limitations. His physical examination is remarkable for the absence of cyanosis. He has a loud holosystolic murmur at the left lower sternal border that is accentuated with respiration. He has no organomegaly or peripheral edema. His TTE reveals moderately severe 3+ TR with an RV systolic pressure of 35 mmHg and normal LV and RV systolic function. There is no evidence of interatrial communication. Which of the following should you recommend?

a.Furosemide and digoxin

b.Tricuspid valve repair

c.Tricuspid valve replacement

d.Dual-chamber pacemaker

e.Regular follow-up with repeat TTE in 6 months

58.The most common problem in adults with surgically repaired TOF is

a.ventricular tachycardia.

b.pulmonary hypertension.

c.pulmonary regurgitation.


e.residual VSD.

59.A 34-year-old gentleman reports a history of TOF, Blalock-Taussig shunt at 10 months, and complete repair at age 3. Although he has been reasonably active for several years, he has noted progressive exercise intolerance in recent months. Examination reveals a III/VI systolic ejection murmur loudest at the second left intercostal space and a II/IV diastolic murmur along the left sternal edge. Jugular venous pulse is not elevated. Lungs are clear and there is no hepatomegaly or peripheral edema. An echocardiogram demonstrates RV dilatation, moderate-to-severe pulmonic regurgitation but no significant TR. The ECG shows sinus rhythm and right bundle branch block with a QRS duration of 160 milliseconds. The most reasonable next step in the evaluation of this patient would be

a.repeat echocardiogram with a saline bubble study.

b.electrophysiologic study for ventricular arrhythmias.

c.cardiac catheterization.

d.cardiac magnetic resonance imaging study.

e.diuretics and digitalis.

60.A 35-year-old man is referred for evaluation of dyspnea and a loud cardiac murmur. Examination reveals an RV lift, a palpable systolic thrill at the second left intercostal space, and a widely split second heart sound. There is a loud and harsh ejection systolic murmur heard loudest at the second left intercostal space. BP is 130/80 mmHg, HR 90 bpm, and regular, oxygen saturation 98% on room air. What is the most likely diagnosis?

a.Unrepaired TOF




e.Pulmonary stenosis

61.Echocardiography confirms doming valvular pulmonary stenosis with a mean Doppler gradient of 40 mmHg. There is no significant pulmonary regurgitation or TR. ECG is normal. The patient undergoes cardiac catheterization (results below):

What is the most appropriate management for this patient?

a.Referral to a pulmonary hypertension specialist

b.Repeat cardiac catheterization with vasodilator challenge

c.Balloon valvotomy

d.Surgical repair


62.Which complications are seen in adults late after the atriopulmonary Fontan procedure among those born with tricuspid atresia?

a.Protein-losing enteropathy

b.Thromboembolic events

c.Intra-atrial reentrant tachycardia (IART)

d.All of the above


63.Which of the following syndromes is associated with pulmonary arteriovenous fistula?

a.Williams syndrome

b.Weber-Osler-Rendu syndrome

c.Bland-Garland-White syndrome

d.Kartagener syndrome

e.Crouzon syndrome

64.What is the most common cardiac defect seen in patients with Noonan syndrome?


b.Pulmonary stenosis

c.Coarctation of the aorta

d.Hypertrophic cardiomyopathy

e.Mitral valve prolapse

65.The most common chromosomal abnormality associated with TOF is

a.22q11.2 microdeletion.

b.7q11.23 microdeletion.

c.missense mutations in the PTPN11 gene on chromosome 12.

d.Trisomy 21.

e.Monosomy X (45, X).

66.Which of the following is true for Loeys-Dietz syndrome (LDS)?

a.Inheritance is autosomal recessive.

b.FBN1 mutations have been implicated.

c.The risk of aortic dissection is lower than for patients with Marfan syndrome.

d.Patients are characteristically tall with long extremities.

e.Hypertelorism, bifid uvula, and arterial tortuosity are common features.

67.Which of the following syndromes is/are NOT associated with pulmonary stenosis?

a.Noonan syndrome

b.Williams syndrome

c.Shone syndrome

d.Congenital rubella syndrome

e.LEOPARD syndrome