Abstract
Hypertrophic cardiomyopathy (HCM) is diagnosed in a presence of severe hypertrophy of the walls of the left ventricle (LV) with a predominant remodeling of n the interventricular septum and the posterior LV wall, when the LV outflow tract (LVOT) begins to obstruct outflow hemodynamics. Because of an extreme genetic etiology diversity of the pathology, the genes that cause it e remain unknown in about 40% of patients with HCM. With the development of NGS technologies, the work of identifying of new mutations has become slightly easier. In addition to rare pathogenic variants of the sarcomeric protein gene, relatively common genetic variants associated with HCM are increasingly being recognized. We performed an examination of 43 patients at the RIOC and ID JSC from January 2017 to August 2021 were examined, 21 of whom had severe HCM with LVOT obstruction that required surgical treatment. Pathology in female population occurred in 67% of cases, in men it was 2 times less - 33 22 patients (51%) had an obstructive form of HCM. The other 21 patients have initial signs of HCM (are under observation) and 35% were asymptomatic patients. IT was established that 56% of the cohort had different types of mutations, in which it was found that 75% of patients had monomutations, and 25% had 2 mutations. In most cases, mutations were found in the myosin heavy chain (MYH7 - 42%) and myosin-binding protein C (MYBPC3 - 17%). In the group ofpatients that underwent a surgical treatment, 12 patients (57%) of patients had various mutations. Also, in 4 patients, we tracked the family history. Morrow myectomy was performed in 21 patients, 95% of them additionally underwent mitral valve repair with removal of secondary chords. In all operated patients, the pressure gradient on the LVOT decreased from 2 to 7+ 1.7 mm Hg. There were no lethal outcomes.