Genetic analysis of patients with hypertrophic cardiomyopathy

Abstract

Hypertrophic cardiomyopathy is one of the most common cardiovascular pathologies. In most cases, the disease is caused by mutations in genes encoding for sarcomeric proteins. However, high genetic heterogeneity of hypertrophic cardiomyopathy makes it difficult to interpret results of patients' genetic studies. The aim of this study is to check if hypertrophic cardiomyopathy in 15 patients suffering from the disease is due to genetic causes. In the course of genetic analysis, a known pathogenic mutation p.Gln1233Ter in MYBPC3 causing hypertrophic cardiomyopathy was found only in one patient. In six patients, mutations with uncertain clinical significance were identified in hypertrophic cardiomyopathy-associated genes LDB3, MYBPC3, MyH7, MYL2, and MyPn. Three of the mutations, p.Ile730Asn in LDB3, p.Asn515del in MYBPC3, p.Arg955Trp in MYPN were found for the first time in association with hypertrophic cardiomyopathy. In two patients, novel mutations, p.Ser478Trp in MyBpC3 and p.Asn989Ile in MYPN, were identified. Thus, hypertrophic cardiomyopathy may be accounted for by genetic causes in 8 patients more but the role of these mutations in the disease development needs to be clarified.