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.
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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
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DOI: https://doi.org/10.1203/00006450-197704000-00944