Cardiomyopathy and atrioventricular block in Emery-Dreifuss muscular dystrophy--a case report.
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.
Kanada
Mehmet
M
Cukurova University School of Medicine, Department of Cardiology, Balcali-Adana, Turkey. mkanadasi@hotmail.com
Demirtaş
Mustafa
M
Güzel
Rengin
R
San
Mustafa
M
Tuncer
Ilhan
I
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