Genetics of hypertrophic and dilated cardiomyopathy.
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Genetics of hypertrophic and dilated cardiomyopathy. / Friedrich, Felix; Carrier, Lucie.
In: CURR PHARM BIOTECHNO, Vol. 13, No. 13, 13, 2012, p. 2467-2476.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -