They concern the identification of the genetic bases and the understanding of the physiopathology of familial hypertrophic cardiomyopathy (FHC). FHC is a cardiac disease whose main characteristic is asymmetric septal hypertrophy. It is one of the most frequent monogenic diseases, with a prevalence of 1:500 in the young adult.

FHC is the main cause of sudden death in the young adult, particularly the athlete, but can also progress to heart failure. This pathology is transmitted in an autosomal dominant mode and the majority of the “classical” forms are associated with more than 200 different mutations in 12 genes encoding the sarcomeric proteins, making this pathology a “sarcomeropathy.”


Our team is particularly interested in the gene MYBPC3 encoding cardiac myosin-binding protein C (cMyBP-C) for several reasons: (1) the role of cMyBP-C in cardiac contraction has not been completely elucidated, (2) most of the FHC families present a mutation in the MYBPC3 gene, (3) most of the MYBPC3 mutations are frameshift mutations, and the molecular mechanisms involved are not known.