Genetic Considerations

Familial dilated cardiomyopathy is transmitted in an autosomal dominant pattern with age-related penetrance and usually appears in young adulthood. Family history accounts for 20% to 25% of cases of idiopathic dilated cardiomyopathy. Rare cases result from mutations in the dys-trophin gene or in mitochondrial DNA. Dilated cardiomyopathy can be caused by mutation in the lamin A/C gene, the gene that encodes the protein phospholamban and the sodium channel gene SCN5A. HCM can be inherited in an autosomal dominant fashion with variable penetrance and variable expressivity. About 45% of cases appear to be sporadic. Problems in genes that code for the sarcomeric proteins (myosin heavy chain, actin, tropomyosin, titin) appear to be involved. Many gene variants have been implicated, some conferring increased risk of severe disease.

0 0

Post a comment