1. (B) Fibromas are typically single, firm, intramural tumors involving the ventricular free wall or septum. Clinical manifestations depend largely on the location of the tumor; however, ventricular arrhythmias are frequently seen in these patients and may be the presenting symptom. The presence of ventricular arrhythmias in the vignette should prompt one to think about fibroma as the answer. Successful surgical excision has occurred in some patients, while patients with extensive involvement of critical structures have occasionally been treated with transplantation.

2. (D) Tetralogy of Fallot with absent pulmonary valve is associated with aneurysmal pulmonary artery dilatation. This may cause compression of the bronchi. Up to 40% to 50% of patients may have respiratory distress at birth, some with lobar emphysema. In the acute setting, prone positioning may help by allowing the aneurysmal pulmonary arteries to fall forward and away from the bronchi. Patients with significant respiratory distress requiring surgery at birth have a worse outcome compared to those who do not need respiratory intervention early after birth.

3. (A) 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 nitroglycerin or administration of isoproterenol will also increase the gradient. Administration of phenylephrine, or stimulation of the alpha-adrenergic system, will increase the afterload pressure, decreasing the gradient and thus the intensity of the dynamic outflow murmur.

4. (B) Specific heart defects associated with maternal PKU include left-sided heart defects (coarctation, hypoplastic left heart syndrome), tetralogy of Fallot, and sepal defects. The other defects listed are not commonly seen in maternal PKU. The degree of elevation of the maternal serum phenylalanine level has been shown to be predictive of congenital heart disease in the fetus.

5. (C) The timing of presentation would be most consistent with a diagnosis of AV canal defect, PDA, or tetralogy of Fallot with minimal pulmonary obstruction. The ECG shows a superior QRS axis which is seen with AV canal defects due to the conduction around the inlet VSD. None of the other choices would have a superior QRS axis.

6. (B) The ECG finding of “q” waves in leads I and AVL are typical for ALCAPA. ALCAPA typically presents at 4 to 6 weeks of age when the PVR has dropped significantly causing a steal phenomenon from the coronary arteries affected. This results in ischemia of the LV and can affect the mitral valve papillary muscles resulting in poor LV function, abnormal coaptation of the mitral valve, and mitral regurgitation. VSD would not give you these findings. Idiopathic cardiomyopathy and congenital mitral regurgitation are diagnoses of exclusion after ALCAPA has been ruled out.

7. (D) The most common viral causes of myocarditis are adenovirus and enterovirus—most commonly the Coxsackie virus. Cytomegalovirus, parvovirus, influenza A, herpes simplex virus, EBV, HIV, and RSV are other rare viral causes of myocarditis.

8. (D) In the setting of IAA without a VSD, an aortopulmonary window can be associated and needs to be ruled out. The others are not common associations that are significant.

9. (E) 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 subvalvar 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.

10. (B) This neonate has decreased saturations and a to-fro murmur. Tetralogy of Fallot/MAPCAs would have a continuous murmur from the MAPCAs. A significant coarctation with right-to-left PDA shunting would have a saturation differential with higher saturations in the upper extremities, and there is typically no to-fro murmur. Pulmonary atresia with intact ventricular septum may have a PDA murmur but no to-fro murmur. Truncus arteriosus commonly has an abnormal truncal valve with some degree of insufficiency and stenosis, causing the characteristic murmur in question.

11. (C) The murmur described is a Still 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. (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, with 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. Pulsus paradoxus is defined as a decrease in systolic blood pressure of greater than 10 mm Hg during inspiration. Normally during inspiration, systolic blood pressure decreases by 4 to 6 mm Hg due to decreased intrathoracic pressure and increased capacity of the pulmonary venous bed. With tamponade, the left ventricular diastolic volume is restricted by increased pericardial pressure, decreased pulmonary venous return, and shifting of the ventricular septum.

13. (C) This patient is presenting with symptoms of protein losing enteropathy. Although lymphopenia can be seen on CBC, it is not specific and neither are abnormal LFTs or UA. TFTs are usually not affected. The most informative and diagnostic test is fecal alpha-1-antitrypsin.

14. (A) Type A IAA occurs more commonly in patients with aortopulmonary septation defects and accounts for around one-third of patients with IAA. 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 IAA. The so-called type D is incompatible with life. See Figure 3.13.

15. (C) 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 degrees to -100 degrees). Right axis deviation may be indicative of right ventricular hypertrophy in certain patients.

16. (D) 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 which may involve an inappropriate tachycardia.

17. (D) With pulmonary artery sling, the left pulmonary artery courses in between the esophagus and trachea causing an anterior indentation on a barium swallow study. All other options may either be normal or show a posterior indentation.

18. (A) With coarctation, the blood pressures in the legs are typically lower than those in the upper extremities. The similar blood pressures in the right and left arm imply that the right and left subclavian arteries originate proximal to the coarctation. If there were a low blood pressure in the right arm (but not the left arm), there could be an aberrant right subclavian artery. Patients with AV canal defects and tetralogy of Fallot do not typically present with blood pressure discrepancies between the upper and lower extremities.

19. (E) 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 prior to 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.

20. (D) The patient is presenting with Beck 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.

21. (B) Pericardial effusions can result as a secondary process of many diseases, including rheumatic fever, 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.

22. (A) If the cause of the failure to thrive is due to a large shunt, there would be evidence of increased precordial activity and a diastolic rumble. Choice B reflect a pressure restrictive VSD and unlikely significant pulmonary overcirculation; choice C is indicative of pulmonary hypertension, and this would not have a large shunt; and choice D can be found with a large ASD, but unlike a large enough shunt to cause failure to thrive. A systolic ejection murmur suggests right ventricular or left ventricular outflow tract obstruction and would not result in pulmonary overcirculation as the cause of the failure to thrive.

23. (A) 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). In the presence of a diastolic rumble, Q_p:Q_s is at least 1.5:1 and likely higher. This type of large atrial septal defect will present more commonly with right-sided enlargement and is unlikely to close spontaneously. The expected right atrial enlargement may cause peaked p-waves seen on ECG.

24. (C) 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 cath lab. Use of an afterload reducer such as milrinone will result in worsening of the gradient.

25. (E) The most common type of cardiac tumor in children, and especially infants, is rhabdomyomas. 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. They have a characteristic “bright” appearance on echo.

26. (E) Retinoic acid, including other forms such as isotretinoin and etretinate, is commonly used in adolescents and young adults with acne and other skin conditions. Strict guidelines have been enacted due to the high risk of complex congenital heart anomalies (particularly conotruncal defects) in exposed fetuses. Extracardiac defects are also common.

27. (B) 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.

28. (A) There is a finding of differential cyanosis and in order for that to exist, there must be a PDA with right-to-left shunting. Choice B would have left-to-right shunting. Choices C and E would not cause differential cyanosis. Choice D would not show differential cyanosis due to the aberrant subclavian artery often coming off distal to the PDA.

29. (E) Patients with CCTGA and those with polysplenia are most at risk for developing high-grade AV block. Patients with CCTGA should be monitored closely over follow-up with regular ECGs and Holter monitors. Patients with polysplenia, or bilateral left sidedness, often have other anatomical findings including dextrocardia, ventricular inversion, and an interrupted IVC. Due to underdevelopment 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.