TY - JOUR
T1 - Dystrophin-Deficient Cardiomyopathy
AU - Kamdar, Forum
AU - Garry, Daniel J.
N1 - Publisher Copyright:
© 2016 American College of Cardiology Foundation.
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2016/5/31
Y1 - 2016/5/31
N2 - 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.
AB - 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.
KW - Becker muscular dystrophy cardiomyopathy
KW - Duchenne muscular dystrophy cardiomyopathy
KW - muscular dystrophy cardiomyopathy
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U2 - 10.1016/j.jacc.2016.02.081
DO - 10.1016/j.jacc.2016.02.081
M3 - Review article
C2 - 27230049
AN - SCOPUS:84969951603
SN - 0735-1097
VL - 67
SP - 2533
EP - 2546
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 21
ER -