Mutation Screening in Familial Cardiovascular Diseases

Abstract

Introduction: Hypertrophic cardiomyopathy is a congenital cardiac disease with autosomal dominant pattern of inheritance and incomplete penetrance. With the knowledge of the responsible genes, the ability to detect the underlying genetic change and with the study of functional analysis of defected protein, we might be able to determine whether specific genotypes lead to different phenotypes. Aims of Study: To comprehensively analyze the mechanism of genesis of hypertrophic cardiomyopathy in Czech patients afflicted with this disorder from molecular genetic point of view (MYH7, TNNT2 gene) to functional analysis of the 3D molecular model of defected β-myosin heavy chain protein in silico. Beside these aims of the study, the reduction of production of inflammatory aggregates in the cardiovascular system was studied in patients with type 2 diabetes mellitus. The reason of this study was to look into possibilities of therapeutical effect on selected cardiovascular risks in patients with hypertrophic cardiomyopathy simultaneously suffering from type 2 diabetes mellitus. Both of these groups of patients have substantially increased risk of cardiovascular diseases due to development of premature atherosclerosis. Material and Methods: A total of 170 probands were enrolled in this study of MYH7 gene. DNA..