The heart is a muscle too: the cardiomyopathy of Duchenne muscular dystrophy


Duchenne muscular dystrophy (DMD) results from a mutation in the gene encoding the cytoskeletal protein dystrophin. Absence of dystrophin in cardiac muscle results in a progressive cardiomyopathy that contributes to significant disease-related morbidity and mortality. The pathophysiologic mechanisms associated with the development of this cardiomyopathy are complex and incompletely understood. It is clear from contemporary imaging modalities such as cardiac magnetic resonance imaging that affected individuals manifest myocardial injury prior to a clinical decline in cardiac function.


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