Diagnosis of Congenital Heart Disease
Jonathan N. Johnson
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1. A 4-year-old child presents with new-onset ventricular tachycardia. Echocardiography after treatment of the arrhythmia reveals a single large mass in the wall of the left ventricle (Figure 3.1). Which of the following is the most likely diagnosis?
D. Pericardial teratoma
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. A 32-year-old pregnant woman undergoes fetal echocardiography due to an abnormal obstetrical scan. The echo reveals a diagnosis of tetralogy of Fallot with absent pulmonary valve. At the time of delivery, what is the most important initial step in management?
A. Immediate sternotomy and ventricular septal defect (VSD) repair
B. Initiation of prostaglandin drip
C. Balloon atrial septostomy
D. Respiratory support
E. Initiation of epinephrine drip
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. You are seeing a 9-year-old patient in clinic who has hypertrophic cardiomyopathy (HCM). On examination, the patient has a crescendo-decrescendo systolic murmur along the left sternal border. Which of the following provocative maneuvers or medications would decrease the intensity of the patient’s murmur?
C. Straining portion of Valsalva
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. A mother with phenylketonuria (PKU) gives birth to a term male infant. The obstetricians note that she had not adhered well to her prescribed diet and likely had elevated blood phenylalanine levels during pregnancy. Which of the following defects are you most likely to see on echocardiography of the neonate?
A. Ebstein anomaly
B. Hypoplastic left heart syndrome
C. Branch pulmonary stenosis
D. Total anomalous pulmonary venous return (TAPVR)
E. Interrupted inferior vena cava (IVC)
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. A 2-month-old infant is referred to you for evaluation of a murmur. Her weight is at the 3rd percentile for age and she has been struggling with feeding. Her parents also note that she breathes quickly. You obtain an electrocardiogram. Which of the following defects are you most likely to find on her echocardiogram (Figure 3.2)?
A. Secundum atrial septal defect (ASD)
B. Patent ductus arteriosus (PDA)
C. Atrioventricular (AV) canal defect
D. Tetralogy of Fallot
E. Truncus arteriosus
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. A 6-week-old infant presents to the emergency room with poor feeding, tachypnea, and wheezing. Heart rate is 169 bpm. Oxygen saturation is 93%. CXR shows cardiomegaly and mild pulmonary edema. Point of care echocardiogram reportedly shows decreased function and moderate mitral regurgitation. ECG is as follows (Figure 3.3).
Which of the following is the most likely diagnosis?
B. Anomalous left coronary artery from the pulmonary artery (ALCAPA)
C. Idiopathic dilated cardiomyopathy
D. Congenital mitral regurgitation
E. Critical pulmonary valve stenosis
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. A 2-year-old girl 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?
B. Parainfluenza virus and coxsackie virus
C. Human immunodeficiency virus (HIV) and parainfluenza virus
D. Coxsackie virus and adenovirus
E. RSV and influenza A virus
8. While undergoing a predischarge examination in the newborn nursery, a 2-day-old term infant is noted to have poor femoral pulses. She also fails the congenital heart disease saturation screening. Electrocardiogram shows sinus tachycardia. Echocardiogram shows an interrupted aortic arch (IAA) with an intact ventricular septum. Which of the following associated findings should be looked for on the echocardiogram?
A. Secundum ASD
B. Left superior vena cava (SVC) to coronary sinus
C. Atrioventricular canal defect
D. Aortopulmonary window
E. Cor triatriatum
9. A 14-year-old girl is referred for an unusual sound heard on auscultation by her pediatrician. There is a highfrequency “click” audible immediately after S1 and heard best at the apex. The most likely cause of this click is:
A. Mitral valve prolapse
B. Subvalvar pulmonary stenosis
C. Pulmonary valve stenosis
D. Pericardial rub
E. Bicuspid aortic valve
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. Prior to discharge from the newborn nursery, a neonate fails pulse oximetry screening. His saturations are 93% in both the upper and lower extremities. On examination, there is a to-fro murmur noted, systolic click, and good distal pulses. The most likely diagnosis is:
A. Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collaterals (MAPCA)
B. Truncus arteriosus
C. Coarctation of the aorta
D. Pulmonary atresia with intact ventricular septum and sinusoids
E. Friction rub
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. 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. One would expect this murmur to increase in intensity:
A. When going from sitting to standing position
B. When squatting
C. When going from sitting to supine position
D. With deep inhalation
E. During the third phase of the Valsalva maneuver
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. Which of the following is the most appropriate indication for performing a pericardiocentesis?
A. Pulsus paradoxus
B. Presumed viral pericarditis
D. Asymptomatic patient with hypothyroidism
E. Asymptomatic patient with renal failure
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. A 7-year-old patient with double-inlet left ventricle, s/p Glenn and Fontan presents with a 1-week history of abdominal pain, diarrhea, lower extremity edema, and acute weight gain. She has no respiratory distress. Heart rate is 89 bpm. Oxygen saturation is 94% in room air. Echocardiogram shows good single ventricle function and mild atrioventricular valve regurgitation. ECG is unremarkable. The most informative laboratory test is:
A. Complete blood count (CBC)
C. Fecal alpha-1-antitrypsin
D. Thyroid function tests (TFTs)
E. Liver function tests (LFTs)
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
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. A neonate fails the pulse oximetry screen. 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. Total anomalous pulmonary venous connection
B. Concentric left ventricular hypertrophy (LVH)
C. Tricuspid atresia
D. Secundum atrial septal defect
E. Double outlet right ventricle (DORV)
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. A 13-year-old girl 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 presyncope. Heart rate is 120 bpm while sitting on the examination table. Blood pressure is 115/72 mm Hg. Body mass index is 15. A faint systolic ejection murmur is heard. Of the following, the most appropriate laboratory test to order would be:
A. Electrolyte panel
B. Chromosome panel (karyotype)
C. Hemoglobin A1C
D. Thyroid-stimulating hormone (TSH)
E. Serum cortisol
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. A 2-year-old boy presents with poor weight gain and difficulty feeding. When he gets agitated during the examination, you note inspiratory stridor. CXR is unremarkable and ECG shows normal sinus rhythm. Barium esophagram shows an anterior indentation (Figure 3.4).
The most likely diagnosis is:
A. Double aortic arch
B. Left arch with aberrant right subclavian artery
C. Right arch with aberrant left subclavian artery
D. Pulmonary artery sling
E. Right arch with left-sided descending aorta
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. An outreach echocardiogram performed on a 2-day-old female infant reveals ventricular hypertrophy and an abnormal aortic arch. The baby is transported to your institution, and on arrival, the nurse performs fourextremity blood pressure measurements. The findings are as follows:
Right leg: 40/25
Left leg: 42/22
Right arm: 73/36
Left arm: 72/35
Which of the following is the most likely diagnosis?
A. Coarctation of the aorta
B. Complete AV canal defect
C. Truncus arteriosus with pulmonary artery ostial stenosis
D. Tetralogy of Fallot
E. Coarctation of the aorta with aberrant right subclavian artery
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.
A. Tetralogy of Fallot
B. Patent ductus arteriosus
C. Tricuspid atresia
D. Complete AV canal
E. Hypoplastic left heart syndrome
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. A 5-year-old boy presents to the emergency department following a motor vehicle accident. The attending physician notes that his blood pressure is now 70/40 mm Hg and that his heart sounds are distant. Which of the following physical examination findings would be consistent with traumatic cardiac tamponade?
A. A third heart sound
B. A precordial rub
C. A precordial knock
D. Neck vein distention
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. 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 bpm. 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. Rheumatic fever
C. Recent isoniazid administration
D. Renal failure
E. Purulent pericarditis
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 6-month-old infant with a known history of atrial septal defect and ventricular septal defect presents with poor weight gain, feeding difficulty, and tachypnea. Respiratory rate is 60 and saturation is 96% in room air. Which examination finding is consistent with a large left-to-right shunt as an etiology of the failure to thrive?
A. Increased precordial activity, 2/6 low-frequency holosystolic murmur, diastolic rumble
B. Normal precordial activity, 2/6 high-frequency holosystolic murmur
C. Increased precordial activity, prominent single S2, no murmur
D. Normal precordial activity, wide split S2, 1/6 low-frequency systolic ejection murmur
E. Increased precordial activity, 3/6 systolic ejection murmur
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 5-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 middiastolic rumble. Which of the following would you most likely find on further investigation?
A. Right atrial enlargement on ECG
B. Evidence of LVH on ECG
C. Qp:Qs = 1.2
D. Accessory left anterior descending coronary artery
E. Spontaneous closure of the defect by age 10
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, Qp:Qs 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. 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 left ventricular (LV) impulse. The neonate has poor peripheral perfusion and weak femoral pulses. On echocardiography, you obtain a right parasternal image with the following velocity in the ascending aorta (Figure 3.5). Of the following, which is the most appropriate next intervention to perform?
A. Initiation of IV milrinone
C. Urgent aortic valvuloplasty
D. Urgent atrial balloon septostomy
E. Initiation of extracorporeal membrane oxygenation
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. A murmur is heard at a 1-week well-child examination. The infant is referred for an echocardiogram, which reveals several well-circumscribed masses in the left and right ventricular walls (Figure 3.6). What is the most likely diagnosis?
C. Blood cyst
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. A 30-year-old woman presents for a fetal echocardiogram. You note in her history that she was treated with retinoic acid during early pregnancy. Which of the following categories of congenital heart anomalies is of particular concern for this fetus?
A. Coarctation of the aorta
B. Hypoplastic left heart syndrome
C. Ebstein anomaly
D. Laterality defects
E. Conotruncal defects
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. 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 the 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?
E. IVC extension of Wilms tumor
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 neonate fails their pulse oximetry screen with saturation of 89% in the right arm. Saturation is 94% in the right leg. CXR shows a narrow mediastinum and no significant pulmonary edema. Cardiac examination is notable for a prominent S2, no murmur, and good distal pulses. Echocardiogram shows d-transposition of the great arteries. What other finding must also be present?
A. Wide open PDA with pulmonary hypertension
C. Intact atrial septum
D. Aberrant right subclavian artery
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. A 12-year-old boy with congenital heart disease is noted to have complete AV block. Which of the following is the most likely structural cardiac diagnosis for this patient?
B. d-Transposition of the great arteries
C. Asplenia with tetralogy of Fallot
D. Maternal lupus
E. Congenitally corrected transposition of the great arteries (CCTGA)
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.
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