Contribution of mutations in the TNNT2 gene to the spectrum of genetic causes of DCM in Russian patients

Abstract

Dilated cardiomyopathy is a serious progressive myocardial disease with a wide polymorphism of genetic causes and clinical manifestations. Mutations in the TNNT2 gene are responsible for 6% of cases of the diagnosed familial DCM. We studied the mutation spectrum in the TNNT2 gene in 92 unrelated probands with primary DCM. It was found that all clinically significant findings are concentrated at position 173 of the T-troponin protein, thus clinical polymorphism observed between variant carriers is due to various complementary factors of both hereditary and non-hereditary origin.