Abstract
Cardiomyopathies are categorized as extrinsic, being caused by external factors, such as hypertension, ischemia, inflammation, valvular dysfunction, or as intrinsic, which correspond to myocardial diseases without identifiable external causes. These so called primary cardiomyopathies can be categorized in four main forms: hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy. Cardiomyopathies are diagnosed by clinical expression, echocardiography, electrocardiography, non-invasive imaging, and sometimes by cardiac catheterization to rule out external causes as ischemia. The two main forms of primary cardiomyopathies are the hypertrophic and dilated cardiomyopathies. Most of hypertrophic cardiomyopathy and 20-50% of dilated cardiomyopathy are familial showing a wide genetic and phenotypic heterogeneity. This review presents the current knowledge on the causative genes, molecular mechanisms and the genotype–phenotype relations of hypertrophic and dilated cardiomyopathies.
Keywords: Cardiomyopathy, hypertrophy, dilatation, genetics, mutation
Current Pharmaceutical Biotechnology
Title:Genetics of Hypertrophic and Dilated Cardiomyopathy
Volume: 13 Issue: 13
Author(s): Felix W. Friedrich and Lucie Carrier
Affiliation:
Keywords: Cardiomyopathy, hypertrophy, dilatation, genetics, mutation
Abstract: Cardiomyopathies are categorized as extrinsic, being caused by external factors, such as hypertension, ischemia, inflammation, valvular dysfunction, or as intrinsic, which correspond to myocardial diseases without identifiable external causes. These so called primary cardiomyopathies can be categorized in four main forms: hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy. Cardiomyopathies are diagnosed by clinical expression, echocardiography, electrocardiography, non-invasive imaging, and sometimes by cardiac catheterization to rule out external causes as ischemia. The two main forms of primary cardiomyopathies are the hypertrophic and dilated cardiomyopathies. Most of hypertrophic cardiomyopathy and 20-50% of dilated cardiomyopathy are familial showing a wide genetic and phenotypic heterogeneity. This review presents the current knowledge on the causative genes, molecular mechanisms and the genotype–phenotype relations of hypertrophic and dilated cardiomyopathies.
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Cite this article as:
W. Friedrich Felix and Carrier Lucie, Genetics of Hypertrophic and Dilated Cardiomyopathy, Current Pharmaceutical Biotechnology 2012; 13 (13) . https://dx.doi.org/10.2174/1389201011208062467
DOI https://dx.doi.org/10.2174/1389201011208062467 |
Print ISSN 1389-2010 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4316 |
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