Dystrophin-Deficient Cardiomyopathy

Research output: Contribution to journalReview article

90 Scopus citations

Abstract

Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers. The primary presenting symptom in most dystrophinopathies is skeletal muscle weakness. However, cardiac muscle is also a subtype of striated muscle and is similarly affected in many of the muscular dystrophies. Cardiomyopathies associated with dystrophinopathies are an increasingly recognized manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Recent studies suggest that these patient populations would benefit from cardiovascular therapies, annual cardiovascular imaging studies, and close follow-up with cardiovascular specialists. Moreover, patients with DMD and BMD who develop end-stage heart failure may benefit from the use of advanced therapies. This review focuses on the pathophysiology, cardiac involvement, and treatment of cardiomyopathy in the dystrophic patient.

Original languageEnglish (US)
Pages (from-to)2533-2546
Number of pages14
JournalJournal of the American College of Cardiology
Volume67
Issue number21
DOIs
StatePublished - May 31 2016

Keywords

  • Becker muscular dystrophy cardiomyopathy
  • Duchenne muscular dystrophy cardiomyopathy
  • muscular dystrophy cardiomyopathy

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