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Cardiomyopathy Questions - Set 2

Question 1

A teenager with left ventricular non-compaction (LVNC) has EF of 35% and frequent PVCs on Holter. What is the appropriate next step?

A) Observation with repeat echo in 6 months B) Beta-blocker and heart failure therapy C) ICD implantation D) Cardiac transplant evaluation E) Ablation of PVCs

Answer **Correct Answer: B** LVNC with reduced EF: - Start heart failure therapy (ACE-I, beta-blocker) - Monitor arrhythmias - ICD if EF remains <35% despite therapy - Consider anticoagulation (high thrombus risk) **Board Pearl:** LVNC + reduced EF: treat as DCM; consider anticoagulation

Question 2

What is the triad of Barth syndrome?

A) DCM, skeletal myopathy, neutropenia B) HCM, deafness, diabetes C) RCM, cataracts, ataxia D) DCM, arrhythmia, sudden death E) HCM, syncope, family history

Answer **Correct Answer: A** **Barth syndrome triad**: - Dilated or LV non-compaction cardiomyopathy - Skeletal myopathy - Neutropenia X-linked, TAZ gene mutation, cardiolipin deficiency **Board Pearl:** Barth syndrome = DCM + myopathy + neutropenia (X-linked)

Question 3

What echo finding differentiates HCM from athlete's heart in a young athlete with LVH?

A) Wall thickness >12mm B) LV cavity size C) Presence of systolic murmur D) Resting heart rate E) QRS voltage

Answer **Correct Answer: B** **LV cavity size** helps differentiate: - Athlete's heart: Enlarged LV cavity (dilated), normal diastolic function - HCM: Small or normal LV cavity, abnormal diastolic function Wall thickness 12-15mm = "gray zone"; cavity size helps clarify. **Board Pearl:** HCM = small/normal LV cavity; athlete's heart = dilated LV cavity

Question 4

A child with Friedreich ataxia should have cardiac screening starting at what age?

A) At diagnosis of neurological symptoms B) Age 5 C) Age 10 D) Age 18 E) Only when cardiac symptoms develop

Answer **Correct Answer: A** Cardiac screening for Friedreich ataxia: - **At diagnosis** and annually thereafter - Most develop HCM eventually (~70%) - Also at risk for arrhythmias - May need earlier transplant evaluation **Board Pearl:** Friedreich ataxia = cardiac screening at diagnosis, then annually

Question 5

What is the earliest ECG abnormality typically seen in Duchenne muscular dystrophy?

A) Complete heart block B) Tall R waves in V1 with deep Q waves in lateral leads C) Left axis deviation D) Prolonged QTc E) Ventricular tachycardia

Answer **Correct Answer: B** DMD ECG changes: - **Tall R in V1, deep narrow Q in I, aVL, V5-V6** - Reflects posterolateral fibrosis - Appears before echo abnormalities - Sinus tachycardia also common **Board Pearl:** DMD ECG = tall R in V1 + deep Q laterally (earliest finding)

Question 6

A neonate presents with heart failure. Echo shows massive LV hypertrophy, EF 50%. ECG shows short PR interval. What enzyme assay would confirm the diagnosis?

A) Alpha-galactosidase A B) Acid alpha-glucosidase C) CPK D) Troponin E) BNP

Answer **Correct Answer: B** **Acid alpha-glucosidase (GAA)** confirms Pompe disease: - Glycogen storage disease type II - Massive LVH in infantile form - Short PR interval on ECG - Enzyme replacement therapy available **Board Pearl:** Infantile Pompe = GAA assay; ERT can be life-saving

Question 7

What is the leading cause of death in pediatric dilated cardiomyopathy?

A) Sudden cardiac death B) Progressive heart failure C) Stroke D) Arrhythmia during exercise E) Infective endocarditis

Answer **Correct Answer: B** **Progressive heart failure** is leading cause of death in pediatric DCM: - SCD is secondary cause - Need for transplant if refractory - 1-year mortality ~15-20% in symptomatic DCM **Board Pearl:** Pediatric DCM: heart failure > SCD as cause of death

Question 8

Which cardiac finding is most associated with Noonan syndrome?

A) Coarctation of aorta B) Pulmonary stenosis and HCM C) Complete AVSD D) d-TGA E) Truncus arteriosus

Answer **Correct Answer: B** **Noonan syndrome cardiac features**: - Pulmonary stenosis (50-60%) - HCM (20-30%) - ASD - Similar to Turner but affects both sexes **Board Pearl:** Noonan = pulmonary stenosis + HCM most common

Question 9

What surveillance is recommended for first-degree relatives of a patient with HCM?

A) One-time screening at age 18 B) No screening needed C) Screening every 2-3 years during growth, annually in adolescence D) Only genetic testing E) Screening only if symptoms develop

Answer **Correct Answer: C** HCM family screening: - Start at diagnosis of proband - **Every 1-3 years during growth (more frequent in adolescence)** - Screen into adulthood (penetrance may be late) - ECG + echo each visit **Board Pearl:** HCM relatives: screen every 1-3 years through adolescence and beyond

Question 10

A child with hypertrophic cardiomyopathy has resting LVOT gradient of 80 mmHg. Medical therapy has failed. What is the recommended intervention?

A) Alcohol septal ablation B) Surgical septal myectomy C) Mitral valve replacement D) ICD implantation E) Cardiac transplantation

Answer **Correct Answer: B** **Septal myectomy** preferred in children: - Alcohol ablation reserved for adults who are not surgical candidates - Lower complication rate in experienced hands - Addresses obstruction and often MR - Good long-term results **Board Pearl:** Pediatric obstructive HCM refractory to meds = septal myectomy (not alcohol ablation)