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Hypertrophic cardiomyopathy (HCM) is one of the most frequently occurring inherited cardiac disorders, affecting up to 1 in 500 of the population. Molecular genetic analysis has shown that HCM is a disease of the sarcomere, caused by mutations in certain contractile protein genes. To date seven disease-associated genes have been identified, those encoding beta-myosin heavy chain, both regulatory and essential myosin light chains, myosin binding protein-C, cardiac troponin T, cardiac troponin I and alpha-tropomyosin. Here we review the analyses of how these mutations affect the in vitro contractile protein function and the hypotheses derived to explain the development of the disease state.

Original publication




Journal article


Cardiovasc Res

Publication Date





20 - 36


Cardiomyopathy, Hypertrophic, Carrier Proteins, Contractile Proteins, Humans, Mutation, Myosin Heavy Chains, Myosin Light Chains, Sarcomeres, Tropomyosin, Troponin I, Troponin T