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J. Cardiovasc. Dev. Dis. 2017, 4(3), 14; doi:10.3390/jcdd4030014

Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype

Nemours Cardiac Center, Nemours/Alfred I. duPont Hospital for Children, Wilmington, 1600 Rockland Rd, DE 19803, USA
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Received: 5 July 2017 / Revised: 27 August 2017 / Accepted: 30 August 2017 / Published: 8 September 2017
(This article belongs to the Special Issue Genetics and Treatment of Dilated Cardiomyopathy)
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Abstract

Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XL-DCM) consist of a unique clinical entity, the dystrophinopathies, which are due to variable mutations in the dystrophin gene. Dilated cardiomyopathy (DCM) is a common complication of dystrophinopathies, but the onset, progression, and severity of heart disease differ among these subgroups. Extensive molecular genetic studies have been conducted to assess genotype-phenotype correlation in DMD, BMD, and XL-DCM to understand the underlying mechanisms of these diseases, but the results are not always conclusive, suggesting the involvement of complex multi-layers of pathological processes that generate the final clinical phenotype. Dystrophin protein is a part of dystrophin-glycoprotein complex (DGC) that is localized in skeletal muscles, myocardium, smooth muscles, and neuronal tissues. Diversity of cardiac phenotype in dystrophinopathies suggests multiple layers of pathogenetic mechanisms in forming dystrophic cardiomyopathy. In this review article, we review the complex molecular interactions involving the pathogenesis of dystrophic cardiomyopathy, including primary gene mutations and loss of structural integrity, secondary cellular responses, and certain epigenetic and other factors that modulate gene expressions. Involvement of epigenetic gene regulation appears to lead to specific cardiac phenotypes in dystrophic hearts. View Full-Text
Keywords: dystrophinopathies; cardiomyopathy; dystrophin-glycoprotein complex (DGC); epigenetic; duchenne muscular dystrophy (DMD); genotype-phenotype correlation dystrophinopathies; cardiomyopathy; dystrophin-glycoprotein complex (DGC); epigenetic; duchenne muscular dystrophy (DMD); genotype-phenotype correlation
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Tsuda, T.; Fitzgerald, K.K. Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype. J. Cardiovasc. Dev. Dis. 2017, 4, 14.

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J. Cardiovasc. Dev. Dis. EISSN 2308-3425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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