Title: Pediatric Cardiology / Neuromuscular
Tags: neuromuscular peds-cardio dmd high-yield surveillance edmd treatment arrhythmia barth friedreich myotonic nm action arrhythmia-risk becker cardiomyopathy carriers evidence hcm icd imaging lvnc pacemaker perindopril prognosis scd

Q: What is the leading cause of death in DMD patients?
A: Cardiomyopathy (now surpasses respiratory due to improved ventilatory support)

Q: When should baseline cardiac evaluation be performed in DMD?
A: At diagnosis or by age 6 years

Q: What is the cardiac surveillance frequency for DMD ages 6-10?
A: Echo + ECG every 2 years

Q: What is the cardiac surveillance frequency for DMD age ≥10?
A: Echo + ECG annually

Q: What is the surveillance frequency if LV dysfunction is detected?
A: Every 6 months

Q: When should ACE inhibitor therapy be initiated in DMD?
A: When LV dysfunction detected; consider prophylactically by age 10 (even if EF normal)

Q: What study showed mortality benefit of prophylactic ACEi in DMD?
A: Perindopril study - 10-year mortality benefit with early initiation

Q: What is the 2022 ACTION consensus for DMD with LV dysfunction?
A: Triple therapy: ACEi/ARB/ARNI + beta-blocker + MRA (mineralocorticoid receptor antagonist)

Q: What beta-blocker is preferred in DMD cardiomyopathy?
A: Carvedilol

Q: How does Becker MD cardiac involvement differ from DMD?
A: Later onset but can be severe; DCM may present before skeletal muscle symptoms

Q: Should DMD carrier females receive cardiac screening?
A: Yes - DMD carriers can develop cardiomyopathy

Q: What is the primary cardiac manifestation of EDMD?
A: Conduction disease and atrial arrhythmias (NOT primarily cardiomyopathy)

Q: What is the major cardiac risk in EDMD?
A: Sudden death from complete heart block

Q: What cardiac device is often needed in EDMD?
A: Pacemaker (early consideration due to progressive conduction disease)

Q: What is the cardiac manifestation of Friedreich ataxia?
A: Hypertrophic cardiomyopathy (>60% of patients); may progress to DCM

Q: What cardiac surveillance is recommended for Friedreich ataxia?
A: Annual echocardiography; CMR for LGE assessment

Q: What are the cardiac manifestations of myotonic dystrophy?
A: Conduction abnormalities (PR prolongation, BBB), atrial arrhythmias, sudden death

Q: What surveillance is recommended for myotonic dystrophy?
A: Annual ECG; Holter if symptoms or ECG abnormalities; low threshold for EPS/device

Q: What is Barth syndrome?
A: X-linked disorder with DCM (often presenting feature), LVNC, neutropenia, 3-methylglutaconic aciduria

Q: What cardiac phenotype is common in Barth syndrome?
A: DCM and left ventricular noncompaction (LVNC)

Q: Which neuromuscular diseases have primarily arrhythmia/conduction risk?
A: EDMD, LGMD, myotonic dystrophy (vs. DMD/Becker which have primarily cardiomyopathy risk)

Q: What imaging modality is useful when echo windows are poor in NM disease?
A: Cardiac MRI - especially useful for detecting fibrosis (LGE) before echo abnormalities

Q: What are ICD indications in DMD?
A: LVEF <35% with symptoms, NSVT; risk-benefit discussion (skeletal muscle atrophy complicates implant)