Resistant cardiomyopathy associated with mental retardation in duchenne muscular dystrophy


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ABSTRACT Duchenne Muscular Dystrophy (DMD) is a primary degenerative disorder of skeletal muscle which affects the myocardium in 50-95% of patients. Cardiac involvement varies from


characteristic ECG changes (asymptomatic carriers) to terminal cor pulmonale in affected males. Early heart failure is rare and appears to be caused by an unusual pattern of myocardial


fibrosis. Adjacent to areas of fibrosis there are hypertrophic, atrophic fibers surrounded by small islands of fat. This pattern is noted in the epimyocardium. The coronary arteries


demonstrate a peculiar intimal pattern of smooth muscle degeneration in close proximaty to areas of epimyocardial fibrosis. Mental retardation occurs in up to 54% of patients with DMD. The


association is thought to be genetically determined but not necessarily X-linked. Four patients with aevere myocardopathy and DMD were studied. Three patients were mentally retarded. All


patients had early heart failure resistant to usual cardiac medications and all expired within 6 days. These patients suggest that in the spectrum of DMD there is a syndrome of early severe


refractory heart failure, mental retardation and epimyocardial fibrosis that is determined 1 by an yet unknown linked genetic factor. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS


* Univ. of Southern California Sch. of Med., Inter-Community Hospital and the Magan Medical Clinic, Inc. Depts. of Pediatrics and Pathology, Los Angeles Gilbert Martin, Kenneth Frankel &


 P N Wehrle * Covina, Calif Gilbert Martin, Kenneth Frankel & P N Wehrle Authors * Gilbert Martin View author publications You can also search for this author inPubMed Google Scholar *


Kenneth Frankel View author publications You can also search for this author inPubMed Google Scholar * P N Wehrle View author publications You can also search for this author inPubMed Google


Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Martin, G., Frankel, K. & Wehrle, P. RESISTANT CARDIOMYOPATHY ASSOCIATED WITH MENTAL


RETARDATION IN DUCHENNE MUSCULAR DYSTROPHY. _Pediatr Res_ 11, 527 (1977). https://doi.org/10.1203/00006450-197704000-00944 Download citation * Issue Date: 01 April 1977 * DOI:


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