Table 1

Genetics of hypertrophic cardiomyopathy (HCM)

Mendelian dominance: variable penetrance
 A disease of sarcomeric proteins
  α and β myosin heavy chain
  Troponin T and I
  α Tropomyosin
  Myosin binding protein C
  α Cardiac actin
  Myosin (essential and regulatory) light chain
  Titin
  • A genetically heterogeneous disease.

  • Mutations in the 10 listed sarcomeric proteins have been shown to account for the Mendelian dominant inheritance of HCM.