Emery-Dreifuss humeroperoneal muscular dystrophy: cardiac manifestations

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder affecting skeletal and cardiac muscles and characterized by muscular atrophy, contractures, and cardiomyopathy with conduction defects. It can be X-linked or autosomal. Not all patients with EDMD develop heart involvement, but heart disease associated with EDMD can be unpredictable and may be life threatening. In rare cases heart problems may be the first symptom of EDMD. Early recognition of heart involvement is of utmost importance as placement of a pacemaker and/or defibrillator may be lifesaving.