Neuromuscular Diseases Cardiac Flashcards¶
Duchenne Muscular Dystrophy (DMD)¶
Q: What is the leading cause of death in DMD patients? A: Cardiomyopathy (now surpasses respiratory due to improved ventilatory support) Tags: dmd, prognosis, high-yield
Q: When should baseline cardiac evaluation be performed in DMD? A: At diagnosis or by age 6 years Tags: dmd, surveillance, high-yield
Q: What is the cardiac surveillance frequency for DMD ages 6-10? A: Echo + ECG every 2 years Tags: dmd, surveillance
Q: What is the cardiac surveillance frequency for DMD age ≥10? A: Echo + ECG annually Tags: dmd, surveillance, high-yield
Q: What is the surveillance frequency if LV dysfunction is detected? A: Every 6 months Tags: dmd, surveillance
Q: When should ACE inhibitor therapy be initiated in DMD? A: When LV dysfunction detected; consider prophylactically by age 10 (even if EF normal) Tags: dmd, treatment, high-yield
Q: What study showed mortality benefit of prophylactic ACEi in DMD? A: Perindopril study - 10-year mortality benefit with early initiation Tags: dmd, perindopril, evidence
Q: What is the 2022 ACTION consensus for DMD with LV dysfunction? A: Triple therapy: ACEi/ARB/ARNI + beta-blocker + MRA (mineralocorticoid receptor antagonist) Tags: dmd, treatment, action
Q: What beta-blocker is preferred in DMD cardiomyopathy? A: Carvedilol Tags: dmd, treatment
Other Dystrophinopathies¶
Q: How does Becker MD cardiac involvement differ from DMD? A: Later onset but can be severe; DCM may present before skeletal muscle symptoms Tags: becker, cardiomyopathy
Q: Should DMD carrier females receive cardiac screening? A: Yes - DMD carriers can develop cardiomyopathy Tags: dmd, carriers, high-yield
Emery-Dreifuss MD (EDMD)¶
Q: What is the primary cardiac manifestation of EDMD? A: Conduction disease and atrial arrhythmias (NOT primarily cardiomyopathy) Tags: edmd, arrhythmia, high-yield
Q: What is the major cardiac risk in EDMD? A: Sudden death from complete heart block Tags: edmd, scd, high-yield
Q: What cardiac device is often needed in EDMD? A: Pacemaker (early consideration due to progressive conduction disease) Tags: edmd, pacemaker
Friedreich Ataxia¶
Q: What is the cardiac manifestation of Friedreich ataxia? A: Hypertrophic cardiomyopathy (>60% of patients); may progress to DCM Tags: friedreich, hcm, high-yield
Q: What cardiac surveillance is recommended for Friedreich ataxia? A: Annual echocardiography; CMR for LGE assessment Tags: friedreich, surveillance
Myotonic Dystrophy¶
Q: What are the cardiac manifestations of myotonic dystrophy? A: Conduction abnormalities (PR prolongation, BBB), atrial arrhythmias, sudden death Tags: myotonic, arrhythmia
Q: What surveillance is recommended for myotonic dystrophy? A: Annual ECG; Holter if symptoms or ECG abnormalities; low threshold for EPS/device Tags: myotonic, surveillance
Barth Syndrome¶
Q: What is Barth syndrome? A: X-linked disorder with DCM (often presenting feature), LVNC, neutropenia, 3-methylglutaconic aciduria Tags: barth, high-yield
Q: What cardiac phenotype is common in Barth syndrome? A: DCM and left ventricular noncompaction (LVNC) Tags: barth, lvnc
General Principles¶
Q: Which neuromuscular diseases have primarily arrhythmia/conduction risk? A: EDMD, LGMD, myotonic dystrophy (vs. DMD/Becker which have primarily cardiomyopathy risk) Tags: nm, arrhythmia-risk, high-yield
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 Tags: nm, imaging
Q: What are ICD indications in DMD? A: LVEF <35% with symptoms, NSVT; risk-benefit discussion (skeletal muscle atrophy complicates implant) Tags: dmd, icd