Genetics of Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HC) is one of the most common causes of sudden death in the young, yet until recently its etiology was unknown. The earliest descriptions of HC recognized its familial nature. Subsequent studies demonstrated a pattern of inheritance consistent with a single autosomal dominant trait in up to 90% of kindreds. Genetic linkage analysis and positional cloning have enabled the identification of the causative mutations in many such single gene disorders. The power of these molecular genetic techniques is that the gene defect can be identified without making any prior assumptions regarding the pathophysiological mechanisms of the disease. In the last 5 years the familial hypertrophic cardiomyopathy (HC) syndrome has been shown to be an heterogeneous group of disorders and mutations have been identified in four different genes. This review will discuss these recent advances highlighting those points which are of relevance to clinical practice.
KeywordsHypertrophic Cardiomyopathy Cardiac Troponin Cardiac Myosin Genetic Linkage Analysis Molecular Genetic Technique
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