About 85% of all sudden death are of cardiological origin. Predisposition to sudden cardiac death is known for the young and adult patients with a hereditary heart disease that can cause sudden cardiac arrest. The purpose of the work was to study the genetic predisposition for cardiovascular diseases in people with a risk of sudden cardiac death. We examined patients aged 19,7±2,1 years with a risk of sudden cardiac death based on specific complaints and medical history, and considering the known markers of the life-threatening arrhythmias. Of the 1000 patients, 167 with a risk of sudden cardiac death were selected according to the questionnaire. In 80 randomly selected patients from this group, gene polymorphisms associated with the development of thrombophilia and hypertension were studied by real time PCR, and in 59 patients the polymorphisms of genes associated with impaired carbohydrate and lipid metabolism were studied. A number of differences were revealed according to the standard 12-channel electrocardiography in comparison with practically healthy individuals. In the study of genetic factors predisposing the development of thrombophilia, hypertension, type 2 diabetes mellitus, lipid metabolism disorders, a high percentage of hetero- and homozygous individuals was revealed by the risk allele of the PAI-1 (83.3%), ITGA2 (69.2%), AGT genes (72.5%), NOS3 (58.8%), PON1 (56%), LEPR (64.3%). The data obtained indicate a significant role of genetic factors in the development of sudden cardiac death, and the synergistic effect of genes, as a result of which the presence of a risk allele in one gene can enhance the expression of another gene.

Abstract. The frequency of occurrence of arterial hypertension genes in individuals at risk of sudden cardiac death was studied. The relationship between risk factors for sudden cardiac death and the presence of polymorphisms of arterial hypertension genes was revealed. There was a high incidence of homozygous risk variants AGTR2 AA and CYP11B2 TT-polymorphisms responsible for the development of left ventricular hypertrophy, including in young individuals. A correlation was found between deaths in close relatives under 50 years of age and the presence of polymorphisms in the CYP11B2 344 CT gene in young people at risk of sudden cardiac death. We have obtained data indicating the feasibility of conducting a study of the polymorphism of the CYP11B2 gene in the presence of a risk of sudden cardiac death. A direct correlation was found between the presence of fatal outcomes in relatives under 50 years of age by the mechanism of sudden cardiac death and the number of homozygous variants of arterial hypertension genes. Mathematical models for predicting the presence of polymorphisms in genes responsible for the possibility of arterial hypertension are constructed. Among the constructed mathematical models, the most informative were models for detecting carriers of mutations in the genes ADD1 1378 GT, CYP11B2 344 CT and NOS3 894 GT. The expediency of the analysis to search for mutations of arterial hypertension genes, especially in the CYP11B2 344 CT gene, for the possibility of earlier and more intensive preventive measures in young people is shown. The data obtained indicate that there are relationships between the risk of sudden cardiac death, some known predictors of its occurrence, and the genes for arterial hypertension.

The influence of the structural polymorphism of the interleukin-10 genes (1082G/A; rs1800896) and tumor necrosis factor-α (308G/A; rs1800629) on the risk of adverse clinical forms of community-acquired pneumonia in young men has been evaluated. In patients with community-acquired pneumonia in young men, the GG genotype of the gene for interleukin-10 (1082G/A; rs1800896) and the AA and AG genotypes of the tumor necrosis factor-α gene (308G/A; rs1800629) have been found to be associated with a severe and prolonged course of this diseases. AA and AG genotypes of the tumor necrosis factor-α gene (308G/A; rs1800629) are associated with the complicated course of community-acquired pneumonia in young people. It was revealed that in young men, in the presence of the GG genotype of the interleukin-10 gene (1082G/A; rs1800896), the relative risk of developing severe disease increases by 3,2 times and the risk of developing long-term community- acquired pneumonia increases by 2,7 times. If young patients suffering from community-acquired pneumonia, AA or AG, have the genotype of the tumor necrosis factor-α gene (308G/A; rs1800629), the relative risk of developing severe course increases by 3,3 times, prolonged course - by 2,6 times, and complicated course - 1,9 times. The results of the study should be used in the diagnosis of community-acquired pneumonia in order to predict the development of adverse clinical forms. Interleukin-10 gene polymorphism (1082G/A; rs1800896) and tumor necrosis factor-α (308G/A; rs1800629) are individual typological features of a person, the verification of which is relevant for use in the diagnosis of community-acquired pneumonia in young people to predict development adverse clinical forms of the disease.

The review presents the recent data on genetic reasons of sudden cardiac death. Mutations discuss in gens associated with sudden cardiac death. Channalopathies, such as Brugada syndrome, long QT syndrome, short QT syndrome and catecholaminergic polymorphic ventricular tachycardia are characterized by arrhythmias in normal heart resulting from genetic anomalies in ion channels