Investigation of genetic factors leading to cardiovascular diseases in persons with risk of sudden cardiac death

Abstract

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.