Cardiomyopathy and Atrioventricular Block in Emery-Dreifuss Muscular Dystrophy

Abstract
A 32-year-old woman is described as having the following characteristics of Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first-degree atrioventricular block, and dilated cardiomy opathy. The biopsy specimen of skeletal muscle showed dystrophic character; a cardiac endomyocardial biopsy specimen showed adipose tissue infiltration and deposition of antihuman IgG. Emery-Dreifuss muscular dystrophy is an X-linked recessive myopathy. The patient had no familial background of the disease. This patient might have a sporadic inheri tance pattern with severe cardiac involvement.