Best Cases: Non-Ischemic Heart Disease-Lamin cardiomyopathy and mitral annular disjunction: two sides of the same coin?

Lamin cardiomyopathy and mitral annular disjunction: two sides of the same coin?

Video Transcription

Video Summary

A 28-year-old athlete was evaluated for frequent ventricular arrhythmias detected by smartwatch ECG, with a history of exertional syncope, palpitations, family cardiomyopathy, and his father’s heart transplant. Testing showed conduction disease, complex PVCs, and sustained ventricular tachycardia. Imaging revealed mild dilated cardiomyopathy, mitral valve prolapse, and mitral annular disjunction with papillary muscle and myocardial fibrosis. Genetic testing identified a novel pathogenic truncating LMNA variant, shared with affected relatives. He was treated with metoprolol and ramipril, and an ICD was implanted. This case suggests LMNA mutations may underlie arrhythmogenic mitral annular disjunction syndrome.

Keywords

LMNA mutation

ventricular arrhythmia

mitral annular disjunction

dilated cardiomyopathy

implantable cardioverter-defibrillator