THE MOLECULAR-GENETICS OF HYPERTROPHIC CARDIOMYOPATHY

Hypertrophic cardiomyopathy has been shown to be a genetically heterog eneous disorder, linked to at feast four different loci on chromosomes 14, 1, 15, and 11. Thus far, three genes have been identified that ha rbor mutations leading to hypertrophic cardiomyopathy. These genes-car diac beta myosin heavy chain, a tropomyosin, and troponin T-code for p roteins that are integral components of the sarcomere. Other loci and genes remain to be identified. Certain genotype-phenotype correlations appear to exist.