Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by slowly progressive muscle wasting and weakness with a humeroperoneal distribution, joint contractures, and cardiac complications.We herein report a patient with EDMD presenting with severe dilated cardiomyopathy and ventricular arrhythmia and harboring a novel frameshift mutation in EMD.