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Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics
Author(s) -
ALCALAI RONNY,
SEIDMAN JONATHAN G.,
SEIDMAN CHRISTINE E.
Publication year - 2008
Publication title -
journal of cardiovascular electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.193
H-Index - 138
eISSN - 1540-8167
pISSN - 1045-3873
DOI - 10.1111/j.1540-8167.2007.00965.x
Subject(s) - hypertrophic cardiomyopathy , medicine , myofilament , sarcomere , sudden cardiac death , sudden death , cardiology , left ventricular hypertrophy , heart failure , muscle hypertrophy , cardiomyopathy , mutation , gene , genetics , myocyte , blood pressure , biology
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder that characterized by marked thickening of the left ventricular wall that occurs in the absence of increased external load. HCM is the most common cause of sudden cardiac death under 35 years and in addition causes heart failure. HCM is usually inherited as an autosomal dominant mutation in genes that encode protein constituents of the sarcomere. To date, more than 450 different mutations have been identified within 13 myofilament‐related genes. This review focuses current research involved in the discovery of other causative genes, investigation of the mechanisms by which sarcomere genes mutations produce hypertrophy and arrhythmia, and identification of modifying factors that influence clinical expression in HCM patients. The clinical implications of molecular advances in HCM are discussed.