Dystrophic Cardiomyopathy and the Need for Cardiovascular Care

Abstract

Duchenne muscular dystrophy (DMD) affects approximately 1 in 5,000 boys worldwide.1,2 This X-linked recessive disease is a result of spontaneous or inherited mutations in the dystrophin gene.3 The dystrophin gene is the longest gene in the human genome as it spans 2.5 megabases, includes 79 exons, and encodes a 427-kDa cytolinker protein.1,3 The dystrophin protein connects the interior of the cell (skeletal myocyte, cardiomyocyte, or neuron) by binding to actin via its amino terminal domain to the sarcolemma as it binds to β-dystroglycan via its carboxyterminal domain.