title: Dystrophin-Deficient Cardiomyopathy.
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.
authors.affiliation: Cardiovascular Division, Lillehei Heart Institute, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Forum
authors.initials: F
authors.lastname: Kamdar
authors.affiliation: Cardiovascular Division, Lillehei Heart Institute, University of Minnesota, Minneapolis, Minnesota. Electronic address: garry@umn.edu.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Garry
mesh_terms: D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D000375:Aging; D057911:Angiotensin Receptor Antagonists / Q000627:therapeutic use; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D001145:Arrhythmias, Cardiac / Q000209:etiology; D009202:Cardiomyopathies / Q000235:genetics* / Q000628:therapy; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000628:therapy; D018450:Disease Progression; D016189:Dystrophin / Q000235:genetics*; D004452:Echocardiography; D004562:Electrocardiography; D000072669:Gene Editing; D015316:Genetic Therapy; D005938:Glucocorticoids / Q000627:therapeutic use; D016027:Heart Transplantation; D006353:Heart-Assist Devices; D006579:Heterozygote; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine; D000451:Mineralocorticoid Receptor Antagonists / Q000627:therapeutic use; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000628:therapy; D009154:Mutation
chemical_list: D000319:Adrenergic beta-Antagonists; D057911:Angiotensin Receptor Antagonists; D000806:Angiotensin-Converting Enzyme Inhibitors; D016189:Dystrophin; D005938:Glucocorticoids; D000451:Mineralocorticoid Receptor Antagonists
keywords: Becker muscular dystrophy cardiomyopathy; Duchenne muscular dystrophy cardiomyopathy; muscular dystrophy cardiomyopathy