1. (A) The current AAP guidelines recommend lifestyle modifications for 6 months prior to pharmacotherapy. ACE inhibitors and calcium channel blockers are some of the recommended first-line agents, but β-blockers and thiazide diuretics are no longer considered first-line agents.

2. (C) The history is concerning for LQTS 2 where arrhythmia can be precipitated by auditory stimuli and strong emotions. Begin evaluation with a baseline ECG. Reassurance only is inappropriate in this case. Echocardiogram is likely to be normal. Exercise testing is reasonable in the workup but after a baseline ECG. Medication may be started after the diagnosis is established.

3. (B) A pulmonary flow murmur is the most common benign murmur in teenagers. Answer A describes the murmur associated with mitral valve prolapse. C is likely a PDA murmur, D describes the classic Still murmur, and E describes a typical small VSD murmur.

4. (C) Aortic regurgitation is associated with bounding peripheral pulses with rapid upstroke and descent (often referred to as a “water hammer pulse”) and wide pulse pressure. Narrow pulse pressure is associated with severe aortic stenosis. Radial-femoral delay is a pulse discrepancy noted in coarctation of the aorta. Prominent jugular venous V waves are present with severe tricuspid valve regurgitation. Prominent hepatojugular reflex is a sign of right heart failure.

5. (C) Genetic testing for Turner syndrome should be performed in all girls diagnosed with coarctation because of the increased association rate (5% to 15%) and because clinical findings suggestive of Turner syndrome may be absent in girls with mosaicism. The patient is hypertensive and the gradient is high, so repeat echocardiography is not indicated. At some point a fasting lipid profile is necessary since patients with coarctation are at risk for early-onset coronary disease, but that is not needed at initial presentation of a 10 year old.

6. (C) Glycogen-storage diseases are associated with short PR interval. An example of a straight memory question that may appear on a board examination.

7. (D) Per the most recent Kawasaki disease guidelines, since he did not have coronary artery aneurysms, there are no physical activity restrictions beyond 6 to 8 weeks from the date of diagnosis if echo remains normal.

8. (C) He had myocarditis/myocardial dysfunction associated with MIS-C. According to the 2017 AHA/ACC guidelines on myocarditis, before returning to competitive sports, athletes who initially present with an acute clinical syndrome consistent with myocarditis should undergo a resting echocardiogram, 24-hour Holter monitoring, and an exercise ECG no less than 3 to 6 months after the initial illness (Class I; Level of Evidence C).

9. (E) In multiple case series, as many as 50% to 80% of the children with MIS-C developed signs of systemic hypoperfusion or shock. In contrast, in patients with KD, <5% of cases require vasopressor support. Coronary artery aneurysms and desquamation occur in both. Steroids may be used early in the course of MIS-C, but rarely in KD. GI symptoms are more common in MIS-C.

10. (E) The supplemental laboratory criteria used in the diagnosis of suspected Kawasaki disease include hypoalbuminemia ≤3.0 g/dL, anemia for age, elevation of alanine aminotransferase, platelet count after 7 days ≥450,000/mm³, white blood cell count ≥15,000/mm³, and urinalysis with ≥10 white blood cells/high-power field and no bacteria.

11. (B) Regardless of the physical examination or symptoms, the sudden death of a first-degree relative should prompt further cardiac testing. The dynamic outflow murmur caused by obstructive hypertrophic cardiomyopathy (HCM) is typically loudest in the standing position, especially when moving from squatting to standing. Although the ECG may eventually be abnormal in most patients with HCM, in a young child it may be normal. The other answers describe features of benign or “physiologic” murmurs frequently heard in young children.

12. (E) Cholesterol screening should be performed on all children with a positive family history of dyslipidemia or premature coronary vascular disease. Screening should also be performed on all children with unknown family history or the following risk factors: overweight or obese, hypertension, cigarette smoking, or diabetes mellitus. This child was appropriately screened given his positive family history of premature coronary vascular disease. Pharmacotherapy should not be started until the child is 8 years of age. At this age, weight management should be the focus to lower the LDL level.

13. (B) More information is needed for a conclusive diagnosis, but the patient has history and physical examination findings consistent with Marfan syndrome, in addition to a family history of aortic aneurysm. FBN1 has been identified as the causal gene in Marfan syndrome. It is also associated with Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome, and ectopia lentis syndrome. TGFBR1 is associated with Loeys-Dietz syndrome and familial thoracic aortic aneurysm syndrome. COL3A1 is associated with Ehlers-Danlos syndrome. ADAMTS10 is associated with Weill-Marchesani syndrome. ACTA2 is associated with familial thoracic aortic aneurysm syndrome.

14. (C) β-Blockers are generally given to most patients with Marfan syndrome and aortic root dilation. Use of losartan has increased in recent years. ACE inhibitors, ARBs, and calcium channel blockers are also used in patients with β-blocker intolerance. Digoxin usually has no role in this disease process.

15. (A) To confirm a diagnosis of hypertension, three blood pressure measurements are needed. This patient has two blood pressures that place him >95%, and the concern is that he has stage 1 hypertension. A single third blood pressure measurement could be performed at a later date. Alternatively, ambulatory blood pressure monitoring could be used. This is especially useful if there is any concern of “white coat” hypertension. In addition, a thorough history and physical examination should be performed to identify any possible causes. If the patient does have stage 1 hypertension, then he needs a diagnostic workup.

16. (D) Prehypertension is defined as average systolic or diastolic blood pressure levels that are ≥90th percentile but <95th percentile. A thorough history and physical examination should be performed, and further testing performed if indicated. It is reasonable to start with lifestyle changes, and blood pressure check should be repeated in 6 months.

17. (B) The patient has auscultation findings consistent with aortic regurgitation. The systolic ejection murmur is secondary to increased stroke volume. The blowing diastolic murmur is the aortic regurgitation. Widened pulse pressure is often found in aortic regurgitation, especially if it is moderate or severe. Widened pulse pressure occurs because there is an increased stroke volume that causes distension of the peripheral arteries and elevation in systolic blood pressure. Diastolic blood pressure is reduced because the regurgitation into the left ventricle leads to a rapid fall in pressure. A systolic ejection click is typically associated with the presence of a bicuspid aortic valve, which would be expected in a patient with physical findings of aortic stenosis/regurgitation.

18. (E) Rheumatic fever is diagnosed based on the Jones criteria. The probability is high if there is group A streptococcal infection as well as two major criteria or one major and two minor criteria. The five major criteria are migratory arthritis, carditis and valvulitis, central nervous system involvement/Sydenham chorea, erythema marginatum, and subcutaneous nodules. The four minor criteria are arthralgia, fever, elevated ESR or CRP, and prolonged PR interval. The patient has one major criterion—valvulitis. To confirm the diagnosis, one more major criterion would need to be present. Otherwise, two minor criteria would be required to make the diagnosis.

19. (A) According to the 2009 guidelines for the diagnosis and management of syncope, there are several high-risk criteria that require hospitalization or intense evaluation (Table 9.1).

20. (D) This patient is at high risk for major cardiovascular events based on her episodes happening with exercise and having palpitations prior to the syncope. Therefore, it is reasonable to admit her to the hospital and do inpatient monitoring while a thorough workup is performed.

21. (C) Endomyocardial biopsy is the gold standard for establishing the diagnosis of myocarditis, although it only yields diagnostic information in 10% to 20% of cases. Endomyocardial biopsy is a class IIb recommendation in the ACC/AHA guidelines for the treatment of heart failure.

22. (A) Patients with sickle cell anemia have chronic anemia and therefore have increased cardiac output. This causes the heart to become enlarged, as can be seen on chest x-ray. Increased cardiac output can cause a flow murmur heard over the left parasternal area. Thrombotic crisis will cause acute chest syndrome, but this is usually not cardiac in nature. A patient with sickle cell anemia may have prolonged PR interval and nonspecific ST changes seen on ECG, but it is rare for arrhythmias to develop. Iron overload causes the cardiac abnormalities seen with thalassemia major.

23. (A) The American Heart Association (AHA) recommends using a blood pressure cuff with a bladder that is at least 80% of the arm circumference. Utilizing a blood pressure cuff with measurements less than this can lead to falsely elevated measurements. Given the recent increase in pediatric obesity rates, it is important to remember that a childsize blood pressure cuff may not be appropriate for all children. While he may have a coarctation, his blood pressure should be accurately measured before undertaking further evaluation. Whether or not this child’s blood pressure is elevated, his obesity should be addressed. When taking an auscultatory blood pressure, patients should be positioned in a seated position with their back flat to a firm surface. The arm should be at the level of the heart. Positioning the arm below the heart may lead to venous congestion and falsely elevated readings. There are a total of five Korotkoff sounds described. Phase 1 is considered to be the SBP and is the first appearance of faint clear tapping sounds that gradually increase and are heard for at least two consecutive beats. Phase 2 is the softening of sounds, which may have a swishing nature. During phase 3, the sounds become more sharp and crisp again compared to phase 2, but less intense than phase 1. There is no described clinical significance of phase 2 or phase 3. Phase 4 is the distinct abrupt muffling of sounds, which become soft and blowing. Phase 5 is the point at which all sounds disappear. There has been debate over the years as to whether phase 4 or 5 should be used for determining DBP. Currently, the AHA recommends using phase 5.

24. (B) Patients with an isolated ASD typically will exhibit left-to-right shunting. Given that the difference in atrial pressures is relatively small, the velocity of shunting across the defect is not high enough to cause a murmur. The increased volume in the right atrium may cause a diastolic flow murmur across the tricuspid valve (if the Q_p:Q_s is >2:1). The systolic ejection murmur is caused by increased stroke volume across a normal pulmonary valve.

25. (C) The constellation of symptoms in this patient is consistent with pulmonary hypertension and little residual left-to-right shunting across the ASD. The prominent S₂ and paradoxical splitting indicate that the pulmonary pressures are high. As the child breathes in, RV outflow increases and the splitting resolves, but with expiration, the RV outflow decreases and the increased pulmonary pressures result in faster and louder closure of the pulmonary valve. If the decrease in left-to-right shunt was from the ASD becoming smaller, then you would expect the splitting to be physiologic and the P2 to be of normal intensity. There is no diastolic murmur because the decreased left-to-right shunt has reduced the flow across the tricuspid valve.

26. (D) This infant has signs of pulmonary overcirculation: poor feeding, tachypnea, and poor weight gain. The appropriate dose of furosemide for this patient is 1 mg/kg/dose given twice daily. One can make the case that surgical repair should be entertained in the near future but that is not one of the options. In this “patient management” type of question, always note patient age, vital signs, and lesion. Management questions will be fairly straightforward if one notes these details in the question stem.

27. (C) The murmur described in this vignette is consistent with a Still’s murmur. It is a common innocent murmur and intermittently found in 75% to 85% of school-aged children. The musical nature and typical qualities are listed in the question stem. The etiology of this murmur is unknown, but there are many theories including physiologic narrowing of the left ventricular outflow area, systolic/diastolic hypermobility of the mitral valve chordae, small aortic diameter, the presence of left ventricular false tendons, or increased aortic flow volume and velocity. Given its position, it is important to differentiate a Still murmur from that of HCM or a VSD. The murmur of HCM would be expected to get louder with Valsalva or standing (maneuvers that decrease venous return). A small VSD would not be affected by physiologic maneuvers and has a harsher quality, frequently begins coincident with the S₁. Reassurance only is sufficient in this patient.

28. (B) The murmur described in the vignette is most consistent with a neonatal transitional murmur of peripheral pulmonary stenosis. Infants born prematurely and of low birth weight are more likely to have this murmur. In about two-thirds of infants, this will disappear by 6 weeks of age. The location of this murmur with radiation to the axilla and the back is the hallmark of peripheral pulmonary stenosis. Persistence beyond 9 months of age warrants further evaluation for branch pulmonary artery or pulmonary valve stenosis. A murmur of pulmonary valve stenosis would best be heard at the left upper sternal border. A right-to-left shunt at the ventricular level or across a PDA would typically be silent and result in systemic desaturation. Classically a PDA with a left-to-right shunt has a continuous murmur. A pulmonary artery to pulmonary vein fistula is low velocity and silent. A systemic artery to pulmonary artery collateral vessel would create a continuous murmur, similar to a PDA with left-to-right shunt.

29. (A) The 2007 AHA guidelines for infective endocarditis (IE) prophylaxis state that the highest-risk patients include:

1. Patients with prosthetic heart valves, including bioprosthetic and homograft valves.

2. Patients with prosthetic material used for cardiac valve repair.

3. Patients with a prior history of IE.

4. Patients with unrepaired cyanotic congenital heart disease, including palliative shunts and conduits.

5. Patients with completely repaired congenital heart defects with prosthetic material or device, whether placed by surgery or by catheter intervention, during the first 6 months after the procedure.

6. Patients with repaired congenital heart disease with residual defects at the site or adjacent to the site of the prosthetic device.

7. Patients with “valvulopathy” in a transplanted heart. Valvulopathy is defined as documentation of substantial leaflet pathology and regurgitation.

It is recommended that prophylaxis be given for procedures that will likely result in bacteremia. These include dental procedures involving manipulation of gingival tissue or the periapical region of the teeth or perforation of the oral mucosa. In regard to respiratory procedures, there is little direct evidence that bacteremia caused during these procedures leads to IE. The AHA does not recommend routine prophylaxis for respiratory procedures unless they involve incision or biopsy of the respiratory tract mucosa. Procedures in which prophylaxis would be indicated include tonsillectomy, adenoidectomy, or bronchoscopy with biopsy. The guidelines no longer recommend prophylaxis for any GI (including diagnostic colonoscopy or esophagogastroduodenoscopy) or GU procedures, even in those patients with the highest-risk lesions unless there is an active or ongoing infection of the GI or GU tract. Routine prophylaxis for either vaginal delivery or caesarian section is not indicated unless there is an active infection that may increase the risk of IE, such as chorioamnionitis. Additional high-risk procedures would be those involving infected skin or musculoskeletal structure.

30. (B) Gram-positive cocci, particularly viridans group streptococci, are responsible for the vast majority of IE. Antibiotic choice should be tailored and directed against these pathogens. The first-line therapy for high-risk patients undergoing high-risk procedures (see Question 29 explanation) is amoxicillin. For patients with penicillin allergy who can take oral medications, cephalexin, clindamycin, azithromycin, and clarithromycin are appropriate. The medication is typically given as a single dose 30 to 60 minutes before beginning the procedure.

31. (B) There are three phases of anthracycline-related cardiotoxicity. The greatest risk factor for all phases is the total cumulative anthracycline dose. The acute phase occurs within 1 week of the infusion (high dose correlates with early cardiac dysfunction). This is often a transient phenomenon and can have a wide spectrum of findings from minor ECG abnormalities and sinus tachycardia to severe ventricular dysfunction and fulminant heart failure. Acute toxicity occurs in 1% of pediatric patients. Early-onset, chronic progressive cardiomyopathy occurs within the first year of treatment. This is a nontransient depression in myocardial function that is due to damage or death of myocytes. It occurs in ˜2% of patients. Late-onset toxicity occurs at least 1 year after treatment. Within 6 years of treatment, 65% of children who received 228 to 550 mg/m² of an anthracycline have cardiac dysfunction. The risk of clinical heart failure 15 to 20 years following chemotherapy is 4% to 5%.

32. (C) Studies in children with idiopathic pulmonary arterial hypertension (IPAH) and hereditary PAH (HPAH) have shown that the survival of those treated prior to the advent of targeted therapies (1950s to 1990s) was 66%, 52%, and 35% for 1, 3, and 5 years, respectively. Studies utilizing targeted therapies such as sildenafil, bosentan, and IV prostacyclin have shown considerable improvement in morbidity and mortality associated with PAH. The 1-, 3-, and 5-year survival rates improved to 94%, 88%, and 81% in a number of studies. The most likely presenting symptoms in children with PAH are dyspnea, fatigue, syncope, or near-syncope. Children are unlikely to present with right heart failure as an initial finding as they are often quite active. Dyspnea on exertion is an early symptom. Children or adults who develop PAH as a result of unrepaired congenital heart disease such as a large VSD typically have a lower mortality than those with IPAH or HPAH as it takes more time for secondary PAH to develop.

33. (D) According to the 2008 AAP Committee on Nutrition guidelines, patients with diabetes mellitus are at particular risk of coronary complications from hyperlipidemia. The most appropriate next step would be to start a statin at this time since the LDL is markedly elevated. The ADA recommends starting a statin in children >10 years of age if the LDL is >160 after lifestyle changes. Goal LDL is <100 mg/dL.

34. (C) This patient’s examination is most consistent with someone who has pulmonary vascular disease. After long-standing left-to-right shunting through a large VSD, the patient has now developed elevated pulmonary vascular resistance and elevated RV pressure. The shunt has reversed and is now right to left, hence the systemic desaturation. The right and left ventricular pressures are likely equal, and there is low-velocity flow across the VSD that is inaudible. As a result of the increased pulmonary pressures, she has developed right ventricular hypertrophy (RVH) resulting in the parasternal lift. LVH would present as a lift or heave along the apex. As a result of the RVH and the increased pulmonary pressures, she has developed audible tricuspid regurgitation. As a result of the RVH, the murmur is displaced more rightward than normal. If the murmur were from increased pulmonary flow, it would be expected along the upper left sternal border and would likely be ejection in quality.

35. (A) The sister with a long QT should be restricted to class IA activities. She is asymptomatic but has baseline QT prolongation (QTc >470 ms or more in males, >480 ms or more in females), so she should be restricted to class 1A sports. If she had genetically proven type 3 LQTS, the restriction limiting participation to class IA activities may be liberalized. But the sisters have LQT1.

The sister with genotype-positive/phenotype-negative LQTS (i.e., identification of an LQTS-associated mutation in an asymptomatic individual with a nondiagnostic QTc) may be allowed to participate in competitive sports. The risk of sudden cardiac death is not zero, but there are no compelling data available to justify restricting these individuals from competitive activities.

Because of the strong association between swimming and LQT1, both sisters should refrain from competitive swimming.

The presence of an ICD would restrict both sisters to class IA activities.

36. (D) DCRV is a progressive lesion and may present in older children and in adulthood. It is caused by a pyramidal mass of muscle that divides the RV cavity into two chambers, higher and lower pressure zones. VSDs occur in 60% to 90% of patients, and are usually membranous, but occasionally subarterial. A VSD may have closed spontaneously before the age that a patient presents with this lesion. It is postulated that inadequate bulbar incorporation is the etiology of DCRV, hence discrete subaortic stenosis has also been reported. Branch pulmonary artery stenosis is not typically associated with DCRV.

37. (D) Neurocardiogenic (vasovagal) syncope is very common in the teenage population. The most cost-effective initial evaluation includes taking a detailed history to ensure that there is no family history of sudden death. After the history and physical examination, the next appropriate test is an ECG if the patient has had no previous evaluation. The other tests listed may be considered if further evaluation is needed or the examination and history raise suspicion of specific pathology.

38. (A) Chest wall pain is the most common cause of chest pain in children. Types of chest wall pain include costochondritis, Tietze syndrome, nonspecific (idiopathic) chest wall pain, precordial catch syndrome, slipping rib syndrome, hypersensitive xiphoid syndrome, trauma and muscle strain, and sickle cell disease. Other, less common causes of chest pain include asthma, infection, pericarditis, gastrointestinal, and pneumothorax. Least common are cardiac causes of chest pain that include HCM, aortic stenosis, pericarditis, arrhythmias, coronary insufficiency, dissecting aortic aneurysm, and mitral valve prolapse. The most common causes of coronary insufficiency in children are Kawasaki disease, Williams syndrome, anomalous origin of the coronary arteries, and coronary arteriovenous and coronary cameral fistulae.

39. (D) Pulsus paradoxus is defined as an exaggeration of the normal variation during the inspiratory phase of respiration, in which the blood pressure declines as one inhales and increases as one exhales. It is one of the hallmarks of cardiac tamponade. It is also a sign that is indicative of several other conditions including pericarditis, chronic sleep apnea, croup, and obstructive lung disease such as asthma or COPD.

Normally, inspiration results in negative intrathoracic pressure, which causes an increase in systemic venous return to the right heart; it increases the capacity of the pulmonary vascular bed to a greater degree. This ultimately leads to a decrease in left-sided output even though there is increased systemic venous return to the right. In cardiac tamponade, right ventricular filling causes restriction to left ventricular filling. With inspiration, this decreased left ventricular filling, coupled with the increased capacity of the pulmonary vascular bed, results in a greater reduction in systemic output and therefore a greater decline in systolic pressure (>10 mm Hg). To measure pulsus paradoxus, one should listen for the difference between the first Korotkoff sound (intermittent and heard only during exhalation) and the second Korotkoff sound (a constant sound not dependent on respiratory cycle) as a reflection of the pulsus paradoxus; this is best accomplished by slow deflation of the BP cuff, but can also be observed by a difference in systolic BP recorded on an invasive arterial pressure monitoring line in relationship to respiration.

Severe aortic regurgitation or a “run-off” lesion, such as a PDA, result in a wide pulse pressure. Severe aortic stenosis results in a narrow pulse pressure with delayed upstrokes. Hypovolemia results in low BP. Kawasaki disease would not be expected to cause a pulsus unless there also was inflammation of the pericardium causing pericarditis.

40. (B) Early diastolic murmurs begin immediately after S₂ and are decrescendo in nature. High-pitched early diastolic murmurs are due to aortic regurgitation with higher diastolic pressure in the aorta. They are heard best with the diaphragm at the left midsternal border. This murmur radiates to the apex and is decrescendo in nature due to a decrease in the intensity of the murmur as the diastolic pressure gradient equalizes. This is also why the murmur is accentuated when the patient leans forward and exhales.

Pulmonary valve regurgitation also produces an early diastolic murmur that is generally low pitched, but can be high pitched if pulmonary hypertension is present. It is also heard at the left midsternal border or at the left upper sternal border; however, radiation of this murmur is down the left sternal border. Patients with significant pulmonary regurgitation have murmurs with to-and-fro qualities due to increased forward volume load during ejection across the pulmonary valve.

Tricuspid and mitral valve stenosis cause mid-diastolic or late diastolic murmurs. These murmurs are produced during the early filling phase of diastole when blood crosses a narrow or thickened AV valve (mid-diastolic) or with atrial contraction (late diastolic). These murmurs are low pitched and are heard best with the bell of the stethoscope.

Mitral valve regurgitation results in a high-pitched holosystolic murmur at the apex with radiation to the back, left axilla, or clavicular area.

41. (E) All of these entities have been implicated as a cause of sudden cardiac death in the young. Many studies have described hypertrophic cardiomyopathy as the most common cause of sudden cardiac death in young athletes.

42. (B) After birth, as pulmonary artery pressures fall below systemic pressures and the pulmonary artery contains desaturated blood, left ventricular perfusion is compromised. Collateral flow is initially low, as collaterals do not form in fetal life when the pressures in the aorta and pulmonary arteries are essentially equal. As the left ventricle’s demand for oxygen is not met, the left ventricular myocardial vessels dilate to reduce resistance and increase flow. When coronary vascular reserve is exhausted, the result is myocardial ischemia. In response to ischemic stimuli, collateral vessels form and enlarge between the normal right and the abnormal left coronary arteries. However, with the left coronary artery connected to the low-pressure pulmonary artery, there is pulmonary-coronary steal as blood tends to flow into the pulmonary artery rather than into the high-resistance myocardial vessels. This results in a left-to-right shunt, which is not significant in terms of cardiac output but which can be critical in terms of coronary flow and creating a “steal” phenomenon and resultant myocardial ischemia.