title: Cardiomyopathy and atrioventricular block in Emery-Dreifuss muscular dystrophy--a case report.
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 cardiomyopathy. 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 inheritance pattern with severe cardiac involvement.
authors.affiliation: Cukurova University School of Medicine, Department of Cardiology, Balcali-Adana, Turkey. mkanadasi@hotmail.com
authors.forename: Mehmet
authors.initials: M
authors.lastname: Kanada
authors.forename: Mustafa
authors.initials: M
authors.lastname: Demirtaş
authors.forename: Rengin
authors.initials: R
authors.lastname: Güzel
authors.forename: Mustafa
authors.initials: M
authors.lastname: San
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tuncer
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006327:Heart Block / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications* / Q000473:pathology* / Q000503:physiopathology