Data on the prevalence and clinical features of familial hypercholesterolemia (FH) in the cohort of patients with acute coronary syndrome (ACS) are few and of particular interest due to the high risk of recurrent cardiovascular events. The aim of the study was to analyze the prevalence and evaluate the clinical parameters of patients with phenotypic FH among ACS patients with an assessment of the development of recurrent cardiovascular events.

Material and methods. The study included 498 patients hospitalized for the development of ACS. The clinical probability of FH was assessed using the diagnostic criteria of the Dutch Lipid Clinics (DLCN score). The follow-up lasted for one year.

Results. A possible diagnosis of FH was determined in 86 (17.3 %) patients, and a probable diagnosis of FH was determined in 6 (1.2 %) patients. Compared with the group of patients without clinical FH, patients with possible and probable FH were characterized by younger age (68.5 years versus 59.5 and 50.5 years, p < 0.001), higher incidence of family history of premature cardiovascular diseases (CVDs) (22.9 % versus 77.9 % and 83.3 %, p < 0.001) and earlier personal history of CVDs (24.1 % versus 90.7 and 100 %, p < 0.001). Patients with FH had more significant abnormalities of lipid metabolism: level of total serum cholesterol and low-density lipoprotein cholesterol was significantly higher among patients with possible and probable FH (p < 0.001) compared to patients without FH. There were no statistically significant differences in the development of cardiovascular events during hospitalization and in the first year after hospital discharge (p > 0.05).

Conclusions. A high prevalence of clinical FH in the population of ACS patients has been revealed. Patients with FH are characterized by younger age, high frequency of family history of premature CVD, early personal history of CVD and more significant lipid disorders. The obtained data demonstrate the importance of identifying patients with FH in order to intensify lipid-lowering therapy to reduce atherogenic burden and prevent the development of acute primary and recurrent cardiovascular events.

In one third of cases, the cause of sudden death remains unexplained after a standard forensic examination. If autopsy is negative, post-mortem molecular genetic testing is recommended in many countries.

The aim of the study was to evaluate the diagnostic significance of molecular autopsy by exome sequencing for young men who died of sudden cardiac death (SCD).

Material and methods. Exome sequencing of a group of young men (n = 37) who died SCD at the age under 45 years (mean age 32.4 ± 6.4 years) was performed. DNA was isolated by phenol-chloroform extraction from myocardial tissue. Whole exome analysis was performed on the Illumina platform. Confirmatory direct automated Sanger sequencing was performed for some of the identified variants.

Results. Of the 37 samples with SCD, analysis of 209 gene sequencing results revealed more than 30 variants in 17 samples (46 %) likely related to the SCD phenotype. The mutations found are localized in the genes associated with phenotypes leading to the development of SCD (HCM, DCM, cardiac arrhythmias).

Conclusions. For the first time in Russia, exome sequencing of DNA samples for men who died from SCD before the age of 45 was performed. Molecular autopsy by exome sequencing is an effective method for searching for causal variants of the nucleotide sequence in SCD.

Aim. To analyze the differences between the behavioral factors of cardiovascular risk in patients with myocardial infarction (MI) depending on the type of their professional occupation.

Material and methods. The pilot study included 94 patients with MI permanently residing in Kemerovo city or the Kemerovo region, who were admitted from May, 2021 to January, 2022 to Kuzbass Clinical Cardiology Dispensary named after academician L.S. Barbarash. For a further analysis all the patients were divided into groups depending to the type of their lifelong professional occupation. The patients were initially comparable in gender and age. The data was collected on days 3–5 of hospital stay through analyzing the medical records and questionnaire survey to detect the behavioral risk factor (smoking and alcohol intake, diet, physical activity (PA) level, stress at work and at home). An adapted Questionnaire Food Frequency was used to assess the diet, PA level was identified using International Questionnaire on Physical Activity, data on smoking status, alcohol intake and the presence of constant or periodic stresses at work and at home were collected through active questioning of the patients.

Results. The patients with MI with different types of lifelong professional activities revealed no differences in active or passive smoking status, the fact of alcohol consumption and abuse. However, the significant differences were detected regarding the previous 12-months stresses at work (р = 0.029) and at home (р = 0.011). Thus, the skilled workers in agriculture and commercial fishing (50 %) referred to constant stress at work and at home, while the patients employed in the service sector, commercial employees of shops and markets (50 %) referred to periodic stress at work. The representatives of legislation, high-ranking officials and managers (50 %) indicated the episodes of stress at home. No differences in the levels of working, transport, recreational and general PA were detected in the groups, alongside this, the level of domestic PA for the week preceding MI was different (р = 0.019). The lowest level of domestic PA within 7 days was observed in technicians and junior professionals (100 %), as well as in the group of military personnel (100 %), while the highest level was observed in patients who manage a household (70 %). Diet analysis during a month prior to MI in patients with different types of professional occupation didn’t reveal the differences in the frequency of consumption of fresh vegetables and fruits, seasonal vegetables and fruits, diary products and meat of any fat content, complex carbohydrates and fish. Meanwhile, significant differences in the frequency of cooked vegetables (р = 0.033) and sweets (р = 0.028) consumption were found out. Among all the types of patients’ professional activities, the most often prior to MI, cooked vegetables were consumed by the patients managing a household (60 %), while the sweets were consumed by technicians and junior professionals (80 %).

Conclusions. It was found out that the patients with MI depending on type of their professional activity had significant differences in the following behavioral factors of cardiovascular risk: stresses at work and at home within 12 months prior to acute coronary accident, the levels of domestic PA within a week, the frequency of sweets and cooked vegetables consumption in a monthly diet. The obtained data indicate the need to take into account the factor of professional belonging of a patient with MI within secondary prevention.

Violation of lipid metabolism is one of the main risk factors for the atherosclerosis in humans. In the course of genome-wide association studies, dozens of gene variants have been identified, to be responsible for predisposition to dyslipidemias. However, many of the associations are either not confirmed by replication or turn out to be specific for certain populations. The aim of the study was to assess the prevalence of one of the most pleiotropic polymorphisms of the human genome – rs13107325 – in a population sample of adolescents in Novosibirsk and to analyze its association with lipid metabolism. The study used blood samples and data from examinations of 1582 adolescents collected during a standardized medical examination at the Institute of Internal and Preventive Medicine – branch of ICG SB RAS. Genotyping for rs13107325 of the SLC39A8 gene was carried out using real-time PCR. A one-way ANOVA was used to assess the correlation of genotypes with lipid levels and body mass index. It was shown that the frequencies of the rs13107325 variant among whites of Western Siberia are lower than the European ones (p = 0.05 ± 0.004). An association with lipid metabolism (total cholesterol, triglyceride and high-density lipoprotein cholesterol level) as well as with body mass index was not confirmed either overall or in any of the groups differing in sampling periods (contrasting in the average food intake). This may indicate that the contribution of the rs13107325 variant to dyslipidemia in adolescents in Western Siberia is insignificant, and the average food intake does not affect the penetrance of rs13107325 in relation to lipid metabolism disorders and body mass index.

The aim of the study was to identify fatty acids of erythrocyte membranes that are significant for distinguishing patients with non-alcoholic fatty liver disease from healthy men, to study their indices and to establish associations of fatty acid levels with clinical and biochemical parameters. 30 men (48.7 ± 3.4 years) with non-alcoholic fatty liver disease (NAFLD) were examined according to ultrasound of the abdominal cavity, confirmed by the NLFS index, the degree of liver fibrosis established by indirect elastometry did not exceed 1 degree. As a comparison group – 28 conditionally healthy men (47.3 ± 2.7 years). The levels of fatty acids of erythrocyte membranes were studied using GC/MS systems based on three quadrupoles. A higher content of a number of saturated (lauric, margarine, pentadecanoic), monounsaturated fatty acids (palmitoleic, oleic, elaidic, the total level of monounsaturated), linoleic acid, the ratio of omega-6 to omega-3 polyunsaturated fatty acids was found in patients with non-alcoholic fatty liver disease compared with those for the control group. On the contrary, the levels of two saturated fatty acids – arachinic acid, stearic acid, omega-3 polyunsaturated fatty acid – docosahexaenoic acid, the total content of sum eicosapentaenoic acid and docosahexaenoic acid, the total level of all omega-3 polyunsaturated fatty acids and the ratio of saturated and unsaturated fatty acids were lower in patients with NAFLD than in healthy men (p=0.004-0.05). Analysis of fatty acid indices reflecting their metabolism revealed an increase in the activity of elongase (protein ELOVL6) – C18:0/C16:0 (p < 0.001), de novo lipogenesis index – C16:0/C18:2n-6 (p = 0.03) and a decrease in the activity of stearoyl-CoA desaturase 1 (C16:1;7/C16:0 (p = 0.004); C18:1;c9/C18:0 (p < 0.0001)), delta-5-desaturase (C20:4n-6/C20:3n-6) (p = 0.022) for patients with NAFLD compared with the control group. The use of individual fatty acid levels as markers to distinguish patients with NAFLD from healthy individuals showed high diagnostic accuracy – for palmitoleic acid area under the curve (AUC) 0.877, sensitivity 87 %, specificity 83 %; for arachinic acid AUC 0.825, sensitivity 84 %, specificity 78 %; for the total content of monounsaturated FA AUC 0.821, sensitivity 81 %, specificity 78 %. The use of the “panel” of fatty acids (С16:1;9, total MUFA, С20:0, n6/n3 PUFA, С18:0) provided an increase in sensitivity (91 %) and specificity (95 %) (AUC 0.915). The multidirectional associations of the levels of fatty acids of erythrocyte membranes with the manifestations of metabolic syndrome, indicators of liver tests were revealed.

Aim of the study: to determine the effect of adherence to drug therapy on physical activity measures, assessed by the six-minute walk test, in patients with myocardial infarction.

Methods. General physical examination methods, evaluation of medication adherence by the use of MoriskyGreen (MMAS-4) questionnaire, six minute walk test, statistical methods of data analysis.

Results. According to the results of the assessment of adherence to drug therapy, 28 patients (62.2 %) were classified as highly adherent (the Morisky – Green score was 4 points out of 4), and 17 patients (37.8 %) were low-adherent (the level less than 4 points on the Morisky – Green questionnaire). A positive correlation was found between the level of adherence to drug therapy and the distance traveled during the six-minute walk test in patients who had myocardial infarction (r = 0.345; p = 0.020).

Conclusion. The adherence to the prescribed drug therapy directly affects the indicators of physical activity of patients who have had myocardial infarction, assessed by the distance traveled during the six-minute walk test.

The review presents the results of studies of possible mechanisms through which the effect of adipokines on the cardiovascular system is realized. Such adipokines and cytokines as adiponectin, leptin, resistin, adipsin, interleukin 6, tumor necrosis factor α are analyzed. Data are given on the pathogenetic and clinical features of the production of these biologically active substances and their effect on metabolism. Thematic sources from PubMed and RSCI databases are analyzed.

The aim of this article is to summarize information about the relationship of the most significant psychosocial factors with cardiovascular disease and adherence to medicamental treatment in patients with myocardial infarction. Numerous studies have established direct associations of depression, personal anxiety, as well as hostility and neurotic disorders with the risk of developing myocardial infarction and the onset of cardiovascular events. Exhaustion contributes to the development of coronary heart disease and is one of the most important risk factors for both men and women, as well as a relatively short-term prognostic marker for the occurrence of myocardial infarction. It has been determined that isolated and lonely people are at increased risk of myocardial infarction and stroke, and among those with a history of myocardial infarction or stroke, an increased risk of death. There is convincing evidence that a narrow social environment and poor social support increase the risk of developing cardiovascular diseases and worsen their prognosis. A number of studies have found that depression and anxiety are directly associated with low adherence to drug treatment in patients who have had myocardial infarction. It has been determined that social support for patients who have had myocardial infarction is directly related to adherence to the implementation of recommendations for secondary prevention and drug treatment.