A Female Carrier of Duchenne Muscular Dystrophy Complicated with Cardiomyopathy

A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left vent...

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Veröffentlicht in:	Internal Medicine 2000, Vol.39(1), pp.34-38
Hauptverfasser:	OGATA, Hitoko, NAKAGAWA, Hidehisa, ABE, Kou HAM, HATTORI, Atsuo, ISHIKAWA, Yuka, ISHIKAWA, Yukitoshi, SAITO, Masaki, MINAMI, Ryoji
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences brain natriuretic peptide Cardiomyopathy, Dilated - diagnosis Cardiomyopathy, Dilated - etiology dystrophin Electrocardiography. Vectocardiography Electrodiagnosis. Electric activity recording Female heart failure Heterozygote Humans Investigative techniques, diagnostic techniques (general aspects) Medical sciences Middle Aged Muscular Dystrophy, Duchenne - complications Muscular Dystrophy, Duchenne - genetics myocardial scintigraphy X-linked recessive disease
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Zusammenfassung:	A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left ventricle. In myocardial scintigraphic images, perfusion defects of the myocardium were revealed. Dystrophin immunostaining of myocardial biopsy specimens showed a mosaic pattern of dystrophin-negative and -positive fibers. Cardiomyopathy is sometimes the only clinical symptom in female carriers of DMD. They are thought to be in a high risk group for developing heart failure. (Internal Medicine 39: 34-38, 2000)
ISSN:	0918-2918 1349-7235
DOI:	10.2169/internalmedicine.39.34