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The gene involved in familial hypertrophic cardiomyopathy on chromosome 11 was recently identified as the cardiac myosin binding protein-C (MyBP-C) gene. The phenotype of two families associated with mutation in this gene is described here and compared to that of five families with mutations in the beta-myosin heavy chain gene.

european heart journal

Genotype–phenotype correlations in familial hypertrophic cardiomyopathy A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes