Genetics of Hypertrophic and Dilated Cardiomyopathy

Author(s): Felix W. Friedrich, Lucie Carrier

Journal Name: Current Pharmaceutical Biotechnology

Volume 13 , Issue 13 , 2012

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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

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Article Details

Year: 2012
Page: [2467 - 2476]
Pages: 10
DOI: 10.2174/1389201011208062467
Price: $65

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PDF: 17