Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients

摘要

Background Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non‐sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. Methods This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58.09±15.82?years) and 25 healthy controls in order to determine the candidate sequence variants, in the selected exons of six cardiomyopathy genes ( MYBPC 3 , MYH 7 , NEBL , SCN 5A , TNNI 3 , TNNT 2 ), by conventional capillary‐based Sanger sequencing method and standard protocols. Results Molecular genetic results confirmed the presence of 43 sequence variants in the selected exons of six cardiomyopathy genes, 58.14% of detected variants were novel. The majority of detected sequence variants were confirmed within exon 23 of MYH 7 gene. Only 11 genetic alterations were predicted to be potentially pathogenic. Conclusions In our study, we identified known and novel sequence variants in 23 unrelated patients with hypertrophic cardiomyopathy, but we did not observe any strong mutation hotspot. The results of our study assumed that exon 23 of MYH 7 gene can be in potential affinity to hypertrophic cardiomyopathy in our cohort of patients. The sequence variants identified in this study may be further investigated in order to determine their functions in disease pathogenesis and improve management, diagnosis, and treatment in Slovak patients.