Genetics of hypertrophic and dilated cardiomyopathy.

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Genetics of hypertrophic and dilated cardiomyopathy. / Friedrich, Felix; Carrier, Lucie.

in: CURR PHARM BIOTECHNO, Jahrgang 13, Nr. 13, 13, 2012, S. 2467-2476.

Publikationen: SCORING: Beitrag in Fachzeitschrift/ZeitungSCORING: ZeitschriftenaufsatzForschungBegutachtung

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@article{90c1dc6769a9496c975e094ffd3b00b5,
title = "Genetics of hypertrophic and dilated cardiomyopathy.",
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 = "Humans, Mutation, Genetic Association Studies, Cardiomyopathy, Dilated/*genetics, Cardiomyopathy, Hypertrophic/*genetics, Cytoskeleton/genetics, Sarcomeres/genetics, Sarcoplasmic Reticulum/genetics, Humans, Mutation, Genetic Association Studies, Cardiomyopathy, Dilated/*genetics, Cardiomyopathy, Hypertrophic/*genetics, Cytoskeleton/genetics, Sarcomeres/genetics, Sarcoplasmic Reticulum/genetics",
author = "Felix Friedrich and Lucie Carrier",
year = "2012",
language = "English",
volume = "13",
pages = "2467--2476",
journal = "CURR PHARM BIOTECHNO",
issn = "1389-2010",
publisher = "Bentham Science Publishers B.V.",
number = "13",

}

RIS

TY - JOUR

T1 - Genetics of hypertrophic and dilated cardiomyopathy.

AU - Friedrich, Felix

AU - Carrier, Lucie

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - Humans

KW - Mutation

KW - Genetic Association Studies

KW - Cardiomyopathy, Dilated/genetics

KW - Cardiomyopathy, Hypertrophic/genetics

KW - Cytoskeleton/genetics

KW - Sarcomeres/genetics

KW - Sarcoplasmic Reticulum/genetics

KW - Humans

KW - Mutation

KW - Genetic Association Studies

KW - Cardiomyopathy, Dilated/genetics

KW - Cardiomyopathy, Hypertrophic/genetics

KW - Cytoskeleton/genetics

KW - Sarcomeres/genetics

KW - Sarcoplasmic Reticulum/genetics

M3 - SCORING: Journal article

VL - 13

SP - 2467

EP - 2476

JO - CURR PHARM BIOTECHNO

JF - CURR PHARM BIOTECHNO

SN - 1389-2010

IS - 13

M1 - 13

ER -