Detection of Arg403Gln, Arg453Cys, Arg719Trp and Arg719Gln Mutations in the ß-Myosin Heavy Chain Gene (ß-Mhc) Causing to Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM), usually an autosomal dominant inherited heart disorder, has a 0.2% prevalence in general population. Genetic mutations in b-myosin heavy chain, troponin T and I, a-tropomyosin, essential and regulatory light chains, cardiac myosin binding protein C, actin and titin like sarcomeric proteins can cause HCM. HCM is anatomically characterized by asymmetrical hypertrophy in left ventricular septum and free wall. The disease has various degrees clinical in severity, up to sudden death. In this study, Arg403Gln, Arg453Cys, Arg719Trp and Arg719Gln mutations that have poor prognosis and high rates of sudden death incidence were investigated in b-myosine heavy chain genes. Eighteen patients (male:9, female:9, mean age:39) diagnosed as HCM by clinical and echocardiographic data were included in the study. DNAs from blood samples of patients were obtained by phenol chloroform extraction and ethanol precipitation methods. PCR and restriction enzyme digestion + mini horizontal agarose electrophoresis techniques were used in screening the mutations. Arg403Gln, Arg453Cys, Arg719Trp and Arg719Gln mutations were found in none of 18 patients. We concluded that risk assessment of sudden cardiac deaths and preclinical diagnosis of the disease could be made by forming a country database including genetic mutations responsible from HCM of more patients.