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Aim. To investigate the association of 10 circulating plasma microRNAs with collateral flow degree in chronic total occlusion (CTO) patients with coronary artery disease (CAD).Materials and methods. Plasma expression levels of 10 circulating miRNAs were measured by real-time PCR using Taqman technology in a sample of 43 subjects. The study included patients with CAD and CTO with good (n=13) or poor (n=10) coronary collateral circulation (CCC) based on Rentrop classification and a control group of patients without significant coronary stenosis (n=20).Results. Significant differences in expression levels were found for 7 circulating miRNAs in patients with CTO and good CCC and for 5 microRNAs in the combined group of patients with CTO compared to the control group. Among the 7 microRNAs, decreased expression of hsa-miR-126-5p, hsa-miR-146a-5p, hsa-miR-155-5p, hsa-miR-15b-5p, hsa-miR-21-5p, hsa-miR-23a-3p and increased expression of hsa-miR-451a were detected. For the first time, we showed that the level of 2 microRNAs (hsa-miR-23a-3p, hsa-miR-21-5p) is significantly reduced and the level of hsa-miR-451a is increased in patients with CAD with good CCC.Conclusion. Plasma microRNAs with significant differences obtained can be used for further studies on a larger sample size as candidate biomarkers for assessing the severity of ССС in the presence of CTO.

The federal program of preferential drug provision in cardiology shows its effectiveness. However, hypercholesterolemia (HCH) remains a significant problem in patients in whom high-dose statin therapy does not provide the target level of low-density lipoprotein cholesterol (LDL cholesterol). The solution to the problem lies in the plane of prescribing lipid-lowering drugs of a different mechanism of action, for example, inhibitors of the PCSK9 enzyme. To recommend the inclusion of such kind drugs in the program, it is necessary not only to have evidence of their life-saving effect, but also the economic feasibility of their use. Aim: to evaluate the economic efficacy of alirocumab (INN) including in the federal program for patients who have suffered an acute coronary event, are receiving statins and have an LDL CH level of 5.0 mmol/l and higher.Materials and methods. Modeling was applied in a target group of 3029 patients of working age who had undergone ACS during the previous 12 months with severe, including familial, HCH, with LDL cholesterol 5.0 mmol/l and higher, receiving statins taking into account previously determined outcomes when using alirocumab + statins for 5 years. Direct medical and non-medical costs, as well as indirect costs, are identified. The cost-effectiveness analysis was applied from the point of view of the effectiveness of treatment (effects on mortality, temporary disability, disability) and direct health care costs (additional drug provision and outpatient follow-up, specialized, including high-tech, medical care in a 24‑hour hospital). Two healthcare technologies were compared: statin therapy and use of alirocumab + statins. The calculations used according to domestic methods used the cost of medical treatment, temporary disability, hospitalizations, loss of GDP and other parameters.Results. Modeling has shown a decrease in mortality, morbidity and disability when using alirocumab in even the first year of use. The economic effect of alirocumab from a decrease in temporary disability in the 1st year is 304.5 mln rub., in the 2nd — 301.5 mln rub., in the 3rd — 321.1 mln rub., in the 4th — 333.1 mln rub. The estimated amount of prevented GDP losses from mortality in the target group for 4 years in the case of alirocumab use amounted to 1,260.2 mln rub. The annual amount of avoidable GDP losses from mortality in the target group in the case of alirocumab is 27–30 %. The annual average savings per patient in the case of alirocumab use are from 7 to 17 %. The greatest impact on reducing losses from disability and mortality of the target group is noted in the group of people aged 40–59 years. Only for this group, if alirocumab is used, it is possible to reduce losses from disability and mortality by 159.2 million rubles per year (83 % of the total economic effect). Starting from the 4th year of alirocumab use, it is possible to obtain a positive economic effect in terms of hospitalization costs.Conclusion. When alirocumab is included in the program of additional drug provision in cardiology, the share of costs for the purchase of alirocumab for the target group may be only 0.01 %. At the same time, the economic effect of inclusion in the first year alone will amount to at least 393.4 million rubles of budget funds. The total amount of avoidable losses due to the alirocumab usage may amount to 1,638 million rubles over 4 years.

Aim. To analyze contrast-enhanced cardiac magnetic resonance imaging (MRI) in patients with phenotypic manifestations of left ventricular non-compaction (LVNC) and related genetic mutations, as well as to determine the relationship between mutations and types of left ventricular (LV) remodeling and with a number of other morphological and functional cardiac parameters.Material and methods. From the registry of patients with LVNC and their relatives, patients with morphological signs of LVNC and 4 related mutations (MYH7, MYBPC3, TTN, and desmin genes (DES, DSG2, DSP and DSC2)). All patients underwent contrast-enhanced cardiac MRI, based on which the type of LV remodeling was determined.Results. The study included 44 patients who, according to genetic analysis, had mutations in sarcomeric genes responsible for LVNC development. In each patient, the type of LV remodeling was determined based on cardiac MRI results. We found that if patients with LVNC have mutations in the MYBPC3 and TTN genes, the chance of LV dilatation remodeling is significantly higher. On the contrary, in the presence of a DES gene mutation, the probability of this LV remodeling is lower, and milder morphological manifestations of LVNC are noted.Conclusion. The combination of cardiac MRI data and genetic analysis improves the morphological and functional stratification of patients with LVNC.

Aim. To validate and evaluate the accuracy of 14 genetic risk scores (GRSs) for type 2 diabetes (T2D), created earlier in other countries, using a Russian population sample from the biobank of the National Medical Research Center for Therapy and Preventive Medicine.Material and methods. For genetic analysis, next generation sequencing data was used on a sample from the Russian population (n=1165) based on the biobank collection. The study included 14 GRSs associated with T2D.Results. The study demonstrated that the predictive power of 12 out of 14 GRSs for T2D was replicated in the Russian population. As quality metrics, we used the area under the ROC curve, which for models including only GRS varied from 54,49 to 59,46%, and for models including GRS, sex and age — from 77,56 to 78,75%.Conclusion. For the first time in Russia, a study of 14 T2D GRSs developed on other populations was conducted. Twelve GRSs have been validated and can be used in the future to improve risk prediction and prevention of T2D in Russia.

In connection with the development of genetic and other types of research in translational medicine, collections containing a significant number of biospecimens and large data sets are required. Since in-depth examination of patients is most often carried out during hospitalization, the creation of collections based on electronic medical records (EMR) data is promising. In this regard, the project "Total biobanking in the hospital of the National Medical Research Center for Therapy and Preventive Medicine" was initiated, aimed at total biobanking of blood and related products from patients in inpatient departments and the creation of a unified system that combines information on biosamples, clinical and other types of data.Aim. To describe the collection of biospecimens collected within the project "Total biobanking in the hospital of the National Medical Research Center for Therapy and Preventive Medicine" for August 2023, and to analyze the process of biospecimen description.Material and methods. Recruitment of patients is carried out on the basis of inpatient departments of the National Medical Research Center for Therapy and Preventive Medicine, only if the patient signs informed consent. After blood is taken, the biomaterial enters the biobank, where sample preparation and storage is carried out, as well as data about each biosample is entered into a special FreezerPRO system. At the same time, clinical data about the patient is collected using EMR, which are combined in the Medialog medical information system.Results. A special software for data exchange between the medical information system and the biobank has been developed, which combines information about patients entering the Medialog medical information system and the FreezerPro biospecimen management system, which contains detailed information about biospecimens. As of August 25, 2023, biomaterial from 3996 patients was collected, which was accompanied by a detailed clinical summary. In particular, data is available on diagnoses (for 100% of patients), laboratory test data (100%), paraclinical data, in particular, electrocardiography (100%), echocardiography (76,8%), 24-hour Holter monitoring (59,8%), esophagogastroduodenoscopy (27,3%), etc. The most common diseases were hypertension (76,0%), atherosclerosis (69,9%), coronary artery disease (52,9%), arrhythmias (50,6%), diabetes (19,2%). In addition, 25,0% of patients had prior stenting.Conclusion. Total biobanking within the hospital of a multidisciplinary research medical center allows for the rapid and high-quality collection of biomaterial and related data. A collection of biospecimens with comprehensive and detailed clinical annotations has been collected. A primary analysis of the collection was carried, which showed that it can be used for a wide range of studies.

Aim. To study genetic causes of decreased low-density lipoprotein cholesterol (LDL-C) in Russian patients.Material and methods. The study included the following Epidemiology of Cardiovascular Diseases and their Risk Factors in Regions of Russian Federation (ESSE-RF) participants: individuals with LDL-C

Aim. To search associations for lipid profile parameters (lowand highdensity lipoprotein cholesterol levels, triglycerides and total cholesterol) in population samples from two Russian regions and make a replication analysis of a previously published genome-wide association study (GWA study, GWAS) for residents of three other Russian regions.Material and methods. The study included representative samples from the Vologda (n=689) and Ivanovo (n=1675) regions collected for the Epidemiology of Cardiovascular Diseases and their Risk Factors in Regions of Russian Federation (ESSE-RF) study. We assessed lipid profile parameters and performed a targeted sequencing. A linear regression model adjusted for sex, age, and statin use was used to assess the associations of genomic variants with lipid profiles. The work replicated the results of a study by Usoltsev D, et al., 2023, carried out on population samples of individuals from St.Petersburg, Orenburg and Samara regions.Results. We identified variants for which associations with lipid parameters had previously been identified in a Russian sample. The proportion of replicated variants was 89% and 92% for the samples from the Vologda and Ivanovo regions, respectively. The directions of effects of all replicated variants in the previously published study (samples from the Orenburg and Samara regions and St. Petersburg) and in both studied samples (samples from the Ivanovo and Vologda regions) coincide.Conclusion. The results of the search for associations with lipid parameters in different Russian samples are consistent with each other.

Aim. To evaluate the information content of genetic risk scores (GRSs) for coronary artery disease (CAD), previously developed on European populations, in representatives of the Russian population.Material and methods. The work involved 1685 people from the ESSE-Ivanovo epidemiological study. CAD was verified in 3,1% of individuals. The coronary composite endpoint was assessed annually during 8-year follow-up. Next generation sequencing was performed using a targeted panel. Logistic regression analysis and area under the ROC curve (AUC) were used. Age, sex, and smoking status were taken into account in the multivariate model.Results. Of the 16 GRSs included in the analysis, only 2 GRSs demonstrated significance in the univariate analysis of association with CAD (highest AUC — 0,577). In a multivariate model, with an increase by 1 standard deviation (SD) for the 6 studied GRSs, a significant association with CAD was obtained — the odds ratio varied in the range of 1,31-1,47. The two GRSs demonstrated significant differences in the incidence of CAD between the groups corresponding to the upper and lower quintiles. Forty-five endpoints were registered. The risk ratio for the end point with an increase in GRS by 1 SD, taking into account cofactors, exceeded statistical significance for the 9 analyzed GRS and was in the range of 1,36-1,54.Conclusion. For the first time in Russia, 16 CAD GRSs, previously developed on European samples, was validated. The results were reproduced only for a few of the studied CAD SGRs.

Aim. To validate and evaluate the accuracy of 4 genetic risk scores (GRSs) for hypertension (HTN), previously created on European samples, on a population sample of the Ivanovo Oblast.Material and methods. For genetic analysis, targeted next-generation sequencing was used on a sample of the Central Russia (n=1682) based on the biobank collection. Four GRSs associated with HTN, previously developed for the European population, were selected for validation. The coefficient of determination and the area under the ROC curve were used as quality metrics for regression models. Additional validation was carried out to include all nucleotide sequence variants, regardless of linkage disequilibrium level. A combined GRS was compiled based on coefficients from individual GRSs using the clumping + thresholding (C+T) method.Results. The study demonstrated that the predictive value of previously developed GRSs when used for Central Russian population is lower than in the original studies. The proportion of explained variance was 0,5-0,8%. The best predictive ability (proportion of explained variance — 2,5%) was demonstrated using previously developed GRSs (Evangelou E, et al., 2018), which includes the largest number of nucleotide sequence variants (n=852).Conclusion. GRSs for HTN, developed on European samples, is not recommended for Russian population without preliminary validation. To create original GRSs, combining statistical parameters (β-coefficients and p-value) from different GRS is not recommended.

Aim. To validate and evaluate the accuracy of 15 genetic risk scores (GRSs) for obesity, created in populations of European origin in the sample of two European Russia regions. Material and methods. Genetic testing has been performed using next generation sequencing on a sample from the Russian population (n=1179). The study included 15 GRS associated with body mass index (BMI) or waist-to-hip ratio adjusted for BMI (WHRadjBMI).Results. The predictive power of 8 out of 9 GRSs for obesity based on BMI remains the same for the Russian population. The predictive power of 6 GRSs for obesity based on WHRadjBMI is lower in the Russian population than in the reference sample. GRS reproducibility increases with the size of initial samples and number of variants included in the GRS increase. The use of GRSs for obesity based on BMI in the Russian population created on European populations is justified.Conclusion. For the first time in Russia, 15 obesity GRSs developed in European populations have been validated. The data obtained on the effectiveness of the considered GRS can be used in the future to improve the obesity prediction and prevention in Russia.

Aim. Maturity- onset diabetes of the young (MODY) is a group of monogenic diseases with an autosomal dominant inheritance. This is a rarely diagnosed disease, occurring in 1 of 10 thousand adults and in 1 of 23 thousand children. Brief description. We present a case report of a patient with a monogenic diabetes HNF4A-MODY, severe hypertriglyceridemia, progressive premature coronary artery disease and a HNF4A gene pathogenic variant (ENST00000316099.8:c.1145dup).Discussion. This case demonstrates the effectiveness of triple hypoglycemic therapy, including empagliflozin for the treatment of monogenic diabetes. Despite the fact that the patient with diabetes reached the target glycated hemoglobin level, the combination of the disease with other cardiovascular risk factors (hypertension, hypertriglyceridemia, obesity, smoking, male sex) led to the progression of coronary and peripheral atherosclerosis. Considering the data of genetic testing, returning to sulfonylurea therapy should be considered. It is important for patient to follow a strict lipid-lowering diet and taking combination lipid-lowering therapy (rosuvastatin, fenofibrate and omega-3 polyunsaturated fatty acids) in order to achieve the target level of low-density lipoprotein cholesterol

Inherited cardiomyopathies (CMP) are a group of heterogeneous diseases characterized by myocardial disorders that is not caused by coronary artery disease, hypertension, valvular and congenital defects. With the development of imaging methods and molecular genetic diagnostics, it has become clear that many CMPs are characterized by phenotypic and genotypic "crossover". And although the genetic component does not always determine the specific phenotype of the disease, genetic testing plays a significant role in risk stratification, determining the prognosis and management of patients, as well as conducting family screening. Considering the high diagnostic and prognostic value of genotype, novel genotype-based strategies for classifying CMP have been proposed in recent years. One example of such a genotype-specific approach is the identification of desmoplakin CMP as a separate independent clinical entity. The article presents a case of a family with a pathogenic DSP gene variant (p.Gln948LysfsTer29) identified in three generations, leading to the development of a specific CMP phenotype. A comprehensive examination was carried out. We demonstrated the stages of natural disease course, as well as management strategy for patients with desmoplakin CMP were proposed.

Russian Society of Cardiology, National Society of Preventive Cardiology

The Russian Society of Cardiology (RKO)With the participation of: The National Society for the Study of Atherosclerosis (NOA), the Russian Association of Endocrinologists (RAE), the Russian Society of Cardiosomatic Rehabilitation and Secondary Prevention (RosOKR), the Russian Scientific Medical Society of Therapists (RNMOT), the Eurasian Association of Cardiologists, the Eurasian Association of Therapists (EAT), the Russian Association of Gerontologists and Geriatricians

Aim. To characterize patients receiving PCSK9 inhibitors, and assess the efficiency of their treatment in a specialized lipid center.Material and methods. A retrospective analysis of the medical records of patients who visited the Lipid clinic of the National Medical Research Center for Therapy and Preventive Medicine (Moscow, Russia), receiving PCSK9 inhibitor and having lipid profile in dynamics, was carried out (n=77). Cardiovascular risk (CVR) and low-density lipoprotein cholesterol (LDL-C) target levels were evaluated in accordance with the Russian guidelines for the diagnostics and correction of dyslipidemias 2020.Results. Of 77 patients taking PCSK9 inhibitors (44.2% males, the median of age 56 [47; 66] years), the majority (64.0%) had a probable or definite familial hypercholesterolemia (FH). The proportion of other lipid metabolism disorders, pure hypercholesterolemia and combined hyperlipidemia was 21% and 15%. More than half of the patients (68.8%) had a very high CVR, mainly due to the presence of coronary heart disease (84.9%). The proportion of patients receiving PCSK9 inhibitors as monotherapy was 7.8%, in combination with high-intensity statin therapy – 33.8%, as part of triple lipid-lowering therapy (high-intensity statin, ezetimibe, PCSK9 inhibitors) – 50.6%. Addition of PCSK9 inhibitors to combined lipid-lowering therapy enabled to reduce the LDL-C level to 1.02 [0.62; 1.39] mmol/l with its total decrease from the baseline by 87.3%. While taking PCSK9 inhibitors, LDL-C

Hypertension (HTN) is a leading risk factor for the development of cardiovascular diseases. In recent decades, the rapid development of genetic tests, in particular genome-wide association study (GWAS), has made it possible to identify hundreds of nucleotide sequence variants associated with the development of HTN. One approach to improve the predictive power of genetic testing is to combine information about many nucleotide sequence variants into a single risk assessment system, often referred to as a genetic risk score. Within the framework of this review, the most significant publications on the study of the genetic risk score for HTN will be considered, and the features of their development and application will be discussed.

Left ventricular non-compaction (LVNC) is a rare, genetically and phenotypically heterogeneous disease, which is often accompanied by diagnostic difficulties.Aim. To demonstrate several generations of a family with LVNC with various clinical and phenotypic manifestations of the disease (dilated and isolated types of LVNC) with an identified rs397516387 variant of the TPM1 gene.Material and methods. Based on the multicenter registry "Myocardial Non-compaction", a family with a familial form of LVNC was selected. Next generation sequencing (NGS) was performed on an Ion S5 system (Thermo Fisher Scientific, USA) using Ampliseq technology. Variant was verified using Sanger sequencing on an Applied Biosystem 3500 Genetic Analyzer (Thermo Fisher Scientific, USA). For clinical interpretation, variants in the genes associated with LVNC with a minor allele frequency

Aim. To demonstrate two generations of a family with a progressive course of left ventricular non-compaction (LVNC) and the presence of a RBM20 gene variant.Material and methods. Based on the multicenter registry of patients with LVNC, a family with LVNC with a dilated phenotype was selected at the National Medical Research Center for Therapy and Preventive Medicine. Next generation sequencing was performed on a Nextseq 550 systen (Illumina, USA). For clinical interpretation, nucleotide sequence variants in the genes associated with LVNC development were selected according to the available literature data, with frequencies

Risk management is a key aspect of the organization and management of biobanks, which is part of the overall quality management system aimed at early detection, analysis and minimization of events, that can lead to negative consequences for the biobank, as well as affect the quality of biosamples and related data. The article presents the biobanking risk classification with the description of each category.Aim. To develop and implement the methodology for identification, analysis, evaluation and development of risk management measures for the biobanking process in the biobank of the National Medical Research Center for Therapy and Preventive Medicine.Material and methods. We present the methodology of the risk management process developed on the basis of the literary data, world experience and experience of the biobank of the National Medical Research Center for Therapy and Preventive Medicine.Results. The biobanking risk management procedure was developed and implemented in the biobank of the National Medical Research Center for Therapy and Preventive Medicine in 2020. The work carried out made it possible to identify, analyze and evaluate a wide range of potential negative events and actions that could lead to biobank damage, both in the form of financial losses and ethical and technical issues related to the biobanking process. A significant reduction in the frequency of emergency events and the high stability of the biobank operation under the influence of various external factors prove the effectiveness of the approach used.Conclusion. The creation and maintenance of a risk management system in the biobank allows, in combination with other measures, to ensure the safety and high quality of the procedures for collecting, processing and long-term storage of biomaterial and related data by creating an environment that rules out or minimizes the impact of various risks.

Aim. To create the concept of the national information platform of biobanks of the Russian Federation (NIPB RF).Material and methods. In April 2022, an expert group consisting of 17 representatives of Russian biobanks was formed in National Association of Biobanks and Biobanking Specialists to create the concept of the NIPB RF. An analysis of international practices in this area was carried out. To assess the infrastructure of Russian biobanks in terms of information support for stored biomaterial, experts formed a questionnaire consisting of several blocks of questions. The survey was conducted from April to June 2022 among representatives of Russian biobanks. Descriptive statistics were used to analyze the results of the survey.Results. In total, representatives of 16 biobanks took part in the survey. The storage capacity of biobanks varies from 2000 to 800000 storage units. It is shown that the majority of biobanks (81%) use information systems for entering and storing related data. Biobanks use foreign and Russian software products (53 and 47%, respectively), while a third develop their own information systems. We formulated the NIPB RF concept as an information system designed for consolidating, processing and using data on biosamples for the development of Russian biobanking and improving the efficiency and quality of research.Conclusion. The creation of the NIPB RF will improve the interaction between biobanks and end users and will develop biomedicine in Russia.

Aim. To study the contribution of rare and low-frequency variants of ANGPTL3, ANGPTL4, APOA5, APOB, APOC2, APOC3, LDLR, PCSK9, LPL genes in assessing the risk of coronary artery disease (CAD) in a cohort of Russian patients with various cardiovascular risks.Material and methods. The study was conducted on a sample of participants in cohort and epidemiological studies (n=2405). Targeted enrichment of coding sequences and exon-intron regions of nine genes (ANGPTL3, ANGPTL4, APOA5, APOB, APOC2, APOC3, LDLR, PCSK9, LPL) was performed. Genetic diagnostics was carried out by next generation sequencing.Results. CAD was confirmed in 267 patients (11%). After genetic diagnosis, all patients were divided into three following groups: individuals with previously described genetic variants associated with elevated levels of low-density lipoprotein cholesterol (LDL-C) and/or triglycerides (TGs); individuals with genetic variants associated with reduced levels of LDL-C and/or TGs; individuals without genetic variants associated with LDL-C and/or TG levels, or with two or more variants with opposite effects on LDL-C and/or TG levels. Kaplan-Meier method revealed that the groups significantly differ in cumulative risk of CAD (p

Aim. To monitor the scope and effectiveness of lipid-lowering therapy (LLT) in the out- and inpatient settings among people hospitalized at the National Medical Research Center for Therapy and Preventive Medicine.Material and methods. Retrospective analysis of randomly selected case records for April-May 2012, 2015 and 2022 (n=658).Results. From 2012 to 2022, the proportion of outpatients taking statins increased as follows: from 28,8 to 60,4% (from 22,2 to 73,3% for high cardiovascular risk (CVR) and from 34,8 to 91,7% for very high CVR). Patients with very high CVR were significantly more likely to be prescribed high-intensity statin therapy (from 3,8 to 45,8%). Inpatients with high CVR were prescribed statins less often (74,3%) than patients with very high CVR (93,6%). In 2022, compared to 2015, the proportion of inpatients who received combined LLT increased as follows — 8,9 vs 0,5% (p< 0,001). Target low-density lipoprotein cholesterol

Aim. To characterize patients accessing lipid clinic and assess the efficiency of treatment in a specialized medical center.Material and methods. A retrospective analysis of the surviving medical records of outpatients who visited the lipid clinic of the National Research Center for Therapy and Preventive Medicine (Moscow, Russia) in 2011-2019 (n=675) was carried out. Cardiovascular risk (CVR) and target lipoproteins levels were evaluated in accordance with actual guidelines for the diagnostics and correction of dyslipidemias.Results. The mediana of lipid clinic patients age was 57 [46;65] years. Female persons attend lipid clinic more often (61.5%). 48.5% of patients had low density lipoprotein cholesterol (LDL-c) >4.9 mmol/L, 7.7% had triglycerides level >5.5 mmol/L. Most of the patients were diagnosed with type IIa hyperlipidemia (44,1%) or type IIb (28,0%). Inherited impaired lipid metabolism was diagnosed in 27.7% individuals. 12.7% of the patients had familial hypercholesterolemia, 57.4% – had secondary causes of impaired lipid metabolism. More than half of the patients (52.4%) had low or moderate CVR, 28.1% had a very high CVR. High or very high CVR individuals revisited the lipid clinic more often than people with lower risk (68.2% vs. 35.4%). Revisiting patients (25.4%) reached LDL-c targets more often (33.3% of very high CVR patients; 45.5% of moderate-risk people) than in ordinary outpatient practice. High-intensity statin therapy was recommended for 32% of patients, and combined lipid-lowering therapy – for 14.8%. Among very high CVR individuals, combined lipid-lowering therapy was prescribed for 38.5%. Given the lipid-lowering therapy prescribed in the lipid clinic, LDL-с

Left ventricular non-compaction (LVNC) is a genetically determined cardiomyopathy characterized by different variants of the clinical course. LVNC family cases allow to study in more details the role of genetic factors in cardiomyopathy pathogenesis and prognosis, as well as to determine clinical course features.Aim. To demonstrate a case of LVNC familial form with a stable benign course and to assess the possible relationship of the detected mutation with the disease prognosis.Material and methods. A family with LVNC was included in the study. The patient with LVNC and his 1st and 2nd degree of kinship relatives underwent clinical and instrumental examination and exome sequencing. LVNC was diagnosed in proband and proband's father. LVNC diagnosis was established basing on echo and magnetic resonance imaging (MRI) criteria.Results. This article presents the results of a comprehensive clinical and instrumental examination of a family with LVNC with a new variant in the MYH7 gene, the absence of intramyocardial fibrosis according to MRI of the heart and a favorable disease course, both in proband's father and proband himself. A comparative analysis of the data obtained with the results of recent large-scale studies and meta-analyses devoted to the study of prognostic factors in patients with LVNC, with identified variants in the MYH7 gene.Conclusions. The variant of p.His1338Pro identified in the MYH7 gene may be associated with the development of LVNC with a benign course.

Aim. To study the prevalence of familial hypercholesterolemia (FH), the characteristics of the clinical features and treatment of the disease in selected regions of the Russian Federation, this article describes the design and initial characteristics of patients included in the study.Material and methods. The study participants were selected among those included in the study “Epidemiology of cardiovascular risk factors and diseases in the regions of the Russian Federation” (ESSE-RF) in different regions of the Russian Federation. The study included individuals with lowdensity lipoprotein cholesterol (LDL-C) levels >4.9 mmol/l or LDL-C levels >1.8 mmol/l, but ≤4.9 mmol/l during statin therapy, according to the data obtained in the ESSE-RF study. These persons are invited for examination and questioning by experts in the field of FH diagnostics. On the basis of the survey data and provided medical documentation, the following information is collected: age, sex, smoking status, presence of hypertension, history of coronary artery disease, stroke, atherosclerosis of cerebral and peripheral arteries, LDL-C level, type, volume and duration of lipid-lowering therapy throughout life, presence and dates of secondary causes of hyperlipidemia, information about the family history of development of early cardiovascular diseases and atherosclerotic diseases, increased levels of LDL-C in relatives of the 1st and 2nd degree of kinship. All patients are examined for the presence of tendon xanthomas (Achilles, metacarpal, elbow, knee tendons) and Corneal arcus. During the visit, blood is taken for subsequent biobanking, measurement of current blood lipid levels, elimination of secondary forms of hypercholesterolemia (for subsequent determination of liver enzymes, thyroid stimulating hormone) and genetic testing. The diagnosis of FH is based on Dutch Lipid Clinical Network Criteria (DLCN). Besides, all participants in the study are tested for compliance with the diagnosis of FH according to Simon Broome criteria. All patients with a definite or probable diagnosis of FH according to DLCN or Simon Broome criteria are subjected to ultrasound examination of carotid, femoral arteries and heart and molecular genetic testing for LDLR, APOB and PCSK9 gene variants.Results. Out of 16 360 participants of the ESSE-RF study in 10 regions, 1787 people (10,9%) met the criteria for inclusion in this study. Among them, men accounted for 35.4%, of which 1150 (7%) patients had a LDL-C level >4.9 mmol/l and 637 (3,9%) had a LDL-C level from 1,81 mmol/l to 4.9 mmol/l during lipid-lowering therapy. When compared to the original cohorts of participants from the 10 regions as compared to 3 previously surveyed regions and selected sub-groups within these cohorts we observed significant differences in several parameters such as age, total cholesterol level, triglycerides, LDL-C, the frequency of cardiovascular diseases, that may indicate regional differences in FH prevalence.Conclusion. The analysis of clinical data of the participants of the ESSE-RF study shows that more than 10% of individuals require an additional examination to verify the FH diagnosis, and regional differences in the FH prevalence are possible.

The growing prevalence of metabolic disorders creates an increasing demand for novel approaches to their prevention and therapy. Novel genetic diagnostic technologies are developed every year, which makes it possible to identify people who are at the highest genetic risk of diabetes, non-alcoholic fatty liver disease, and metabolic syndrome. Early intervention strategies can be used to prevent metabolic disorders in this group of people. Genetic risk scores (GRSs) are a powerful tool to identify people with a high genetic risk. Millions of genetic variants are analyzed in genome-wide association studies in order to combine them into GRSs. It has become possible to store and process such huge amounts of data with the help of biobanks, where biological samples are stored according to international standards. Genetic studies include more and more people every year that increases the predictive power of GRSs. It has already been demonstrated that the use of GRSs makes future preventive measures more effective. In the near future, GRSs are likely to become part of clinical guidelines so that they can be widely used to identify people at high risk for metabolic syndrome and its components.

Aim. To analyze the structure of clinical data, as well as the principles of collecting and storing related data of the biobank of the National Medical Research Center for Therapy and Preventive Medicine (hereinafter Biobank).Material and methods. The analysis was carried out using the documentation available in the Biobank, as well as the databases used in its work. The paper presents clinical data on biosamples available in the Biobank as of August 18, 2021.Results. At the time of analysis, the Biobank had 373547 samples collected from 54192 patients within 37 research projects. The article presents the analysis of data representation and quantitative assessment of the presence/absence of common diagnoses in clinical projects. Approaches to documenting clinical information associated with biological samples stored in the Biobank were assessed. The methods and tools used for standardization and automation of processes used in the Biobank were substantiated.Conclusion. The Biobank of the National Medical Research Center for Therapy and Preventive Medicine is the largest research biobank in Russia, which meets all modern international requirements and is one of the key structures that improve the research quality and intensify their conduct both within the one center and in cooperation with other biobanks and scientific institutions. The collection and systematic storage of clinical abstracts of biological samples is an integral and most important part of the Biobank’s work.

Osteoporosis is a chronic systemic disease of the skeleton, characterized by a decrease in bone mass and an impairment of bone microarchitecture, which can lead to a decrease in bone strength and an increase in the risk of minor trauma fractures. Osteoporosis is diagnosed on the basis of bone mineral density (BMD). BMD is characterized by high heritability that ranges according to various sources from 50 to 85%. As in the case of other complex traits, the most common approach to searching for genetic variants that affect BMD is a genome-wide association study. The lower effect size or frequency of a variant is, the larger the sample size is required to achieve statistically significant data on associations. Therefore, the studies involving hundreds of thousands of participants based on biobank data can identify the largest number of variants associated with BMD. In addition, biobank data are used in the development of genetic risk scores for osteoporosis that can be used both in combination with existing prognosis algorithms and independently of them. The aim of this review was to present the most significant studies of osteoporosis genetics, including those based on biobank data and genome-wide association studies, as well as studies on the genetic risk scores and the contribution of rare variants.

Left ventricular non-compaction is a heterogeneous heart disease with various phenotypic and clinical manifestations. The article presents the results of clinical, instrumental and molecular genetic investigations of a family with diagnosed left ventricular non-compaction (LVNC) with different clinical and phenotypic manifestations. As a result of a molecular genetic testing, all family members with the LVNC phenotype were found to have a likely pathogenic variant in the FLNC gene. Variants in this gene are associated with a number of cardiomyopathies: dilated, hypertrophic, and restrictive. In the international scientific literature, isolated clinical cases of LVNC development with variants of the FLNC gene nucleotide sequence are presented. In our work, we present a case report of LVNC with a variety of clinical manifestations within the same family.

Intensive investigation of cardiovascular disease (CVD) risk factors (RFs), both traditional (smoking, dyslipidemia, diabetes, etc.) and non-traditional, which are a component of the so-called exposome, as well as their non-drug and drug correction provide wide prospects for effective cardiovascular prevention. Prevention becomes the dominant trend in cardiology and in medicine in general. The aim of the article was to describe cardiovascular prevention in young, middle, elderly and senile age. Due to the multifaceted nature of cardiovascular RFs, an integrated biopsychosocial approach, individual and population-based prevention, cumulative risk assessment of all CVDs, intersectoral collaboration and the involvement of decision-makers, are key to the success and effectiveness of prevention measures. It is important to note that, on the one hand, preventive measures should be started as early as possible due to cumulative effect of RFs, on the other hand, most of the preventive interventions for CVD are extremely relevant at all life stages.

The review is devoted to the comorbidity of two multifactorial diseases — atherosclerosis and osteoporosis. Numerous epidemiological, experimental and clinical studies have confirmed the relationship between these diseases based on common risk factors and pathogenetic mechanisms. At the same time, to assess the associations between osteoporosis and atherosclerosis-related cardiovascular diseases, the following surrogate markers are used: vascular calcification, vascular stiffness, bone mineral density. It is known that atherosclerosis and osteoporosis depend on the human genotype, and they are caused by the interaction between the environment and genes. The modifiable risk factors for these diseases are largely similar, and the common features of atherosclerosis and osteoporosis pathogenesis make it possible to formulate the concept of a unified genetic basis of their development. Advances in molecular technology have made it possible to conduct a genome-wide association study (GWAS) and successfully identify genetic markers associated with both atherosclerosis and osteoporosis. The review aim was to describe the genes associated with developing atherosclerosis, arterial calcification and osteoporosis, as well as to provide information on the current understanding of the general genetic basis for plaque formation, vascular calcium deposition, and a decrease in bone mass. The analysis of publications from the PubMed, Medline, Web of Science and Cochrane Library databases since 2000 have been carried out. The article describes the genetic markers associated with atherosclerosis and osteoporosis, as well as considers the achievements in studying genetics of osteoporosis and atherosclerosis-related cardiovascular diseases. In addition, modern approaches and directions for further research of these diseases was established. The review can be useful for medical practitioners to clarify various genetic associations and mechanisms that lead to this comorbidity.

In recent years, researchers have increasingly noted that the development and health of cardiovascular system is influenced by both traditional risk factors (RF) and other determinants of human exposome — a combination of factors of the external and internal environment that affect genetics and epigenetics, as a result of which, one or another (more or less healthy) phenotype is formed. Exposome components have a continuous effect throughout all periods of life. Many RFs have a cumulative effect, and therefore it is important to start prevention of cardiovascular diseases (CVDs) as early as possible. The aim of this review was to consider various aspects of CVD prevention in childhood and adolescence. These periods are critical for the development of most behavioral habits, which maintain throughout life. Leading by personal example by parents and the immediate environment plays a paramount role in healthy lifestyle inclusion of children and adolescents. Targeted programs in kindergartens and schools aim at improving health literacy, early detection and timely changing traditional and non-traditional CVD RFs, diagnosis of genetic diseases involving the heart and blood vessels, prevention of sudden cardiac death are also important methods of CVD prevention in childhood and adolescence. Measures of population-based prevention are of great importance, including monitoring of advertising and media content, statutory ban of alcohol and tobacco sale, and the formation of healthy lifestyle.

Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently studied and is extremely rarely diagnosed. In actual clinical practice, physicians do not have clear understanding of clinical course and genetic basis of FD. The aim was to present the most complete, but at the same time a critical review with a modern view on FD. We analyzed Russian and foreign publications from following electronic databases: PubMed, eLIBRARY, Google Scholar. As a result, the phenotypic features and genetic variability of the disease were considered and the main issues of diagnosis and treatment of patients with FD were discussed. The data presented will help the clinician to timely suspect the FD, conduct a full range of investigations and prescribe evidence-based lipid-lowering therapy.

Aim. To study the prevalence of carotid (CA) and femoral artery (FA) atherosclerosis among Russian population, mainly in middle age group, using a representative sample of one of the Central Russian regions.Material and methods. The analysis included participants of the ATEROGEN-Ivanovo study (sub-study of the ESSE-RF conducted in the Ivanovo region) aged 40-67 years, who were invited for CA and FA ultrasound to assess plaque presence. A total 1102 people were examined, which was >80% of the original sample.Results. The age of subjects was 54 [48; 60] years (men, 28%). Only 11,2% of participants took statins; 30,9% had low cardiovascular risk (CVR), 35,6% — moderate CVR, 21,8% — high CVR, and 11,8% — very high CVR. The incidence of at least one plaque in CA or FA was 73,6%. The prevalence of CA atherosclerosis was 76,4% in men and 59,1% in women, FA atherosclerosis — 54,9% and 28,3%, respectively. Furthermore, plaques were detected already at the age of 40. The incidence of plaques significantly increased with age, with the exception of carotid atherosclerosis in men, a significant increase in the incidence of which stopped at 45 years of age.Conclusion. Among the Ivanovo population aged 40-67 with a predominance of low-to-moderate CVR patients, there is a high prevalence of carotid and femoral atherosclerosis, which indicates a high potential for using ultrasound for diagnosing subclinical atherosclerosis in assessing CVR in people of this age range.

Aim. To assess the diagnostic value of standard and modified ultrasound criteria for left ventricular noncompaction (LVNC).Material and methods. The study included 37 patients. All patients underwent echocardiography and magnetic resonance imaging (MRI). Patients with any of the standard echocardiographic criteria for LVNC (Chin, Jenni, Stollberger) were included in the study. We studied modified echocardiographic criteria of LVNC in 4 and 3-chamber apical views in systole and diastole in the anterolateral (ALsist and ALdiast) and posterolateral (PLsist and PLdiast) walls with the non-compact to compact layer ratio (NC/C) >2. To assess the diagnostic value of the echocardiographic LVNC criteria, the specificity (SP) and sensitivity (SN), the likelihood ratio for positive (LR+) and negative (LR-) test results were calculated, and the operating characteristic curve (ROC) was analyzed.Results. The study included 19 women (51,4%) and 18 men (48,6%), aged 18 to 69 years. The mean age of the patients was 37,7±12,6 years. Relative to the Petersen's MRI-criterion for the Chin's criterion, SN was 55%, SP — 53% (LR+ =1,2, LR- =0,9); for the Jenni's criterion, SN — 55%, SP — 35% (LR+ =0,9, LR- =1,3); for the Stollberger's criterion, SN — 70%, SP — 18% (LR+ =0,9, LR- =1,7); for PLsyst criterion, SP — 82%, SN — 50% (LR+ =2,8, LR- =0,6). Relative to the Grothoff's MRI-criterion, which determined the LVNC mass as a percentage, for the Chin's criterion, SN was 69%, SP — 58% (LR+ =of 1,7, LR- =0,5); for the Jenni's criterion, SN — 85%, SP — 54% (LR+ =1,9, LR- =0,3); for the Stollberger's criterion, SN — 77%, SP — 25% (LR+ =1,0, LR- =0,9); for PLdiast criterion SP — 79%, SN — 62% (LR+ =3,0, LR- =0,5); for PLsyst criterion SP — 63%, SN — 84% (LR+ of 2,2, LR- =0,3); for ALdiast criterion, SP — 83%, SN — 69% (LR+ =4,1, LR- =0,4); for ALsyst criterion, SP — 71%, SN — 92% (LR+ =3,1, LR- =0,1). Relative to the Grothoff's MRI-criterion, which determined the LVNC mass index, for the Chin's criterion, SN was 59%, SP — 70% (LR+ =2,0, LR- =0,6); for the Jenni's criterion, SN — 67%, SP — 60% (LR+ =1,7, LR- =0,6); for the Stollberger's criterion SN — 78%, SP — 30% (LR+ =1,1, LR- =0,7); for the PLdiast criterion, SN — 33%, SP — 60% (LR+ =0,7, LR- =1,3); for PLsist criterion, SN — 59%, SP — 60% (LR+ =1,5, LR- =0,7); for ALdiast criterion, SN — 41%, SP — 80% (LR+ =2,0, LR- =0,7); for ALsist criterion, SN — 67%, SP — 90% (LR+ =6,7, LR- =0,4). Using ROC analysis with NC/C ratio of 2,3 for the ALsyst criterion, SN was 62%, SP — 92%; with NC/C ratio of 2,2 for PLsyst criteria in a posterolateral view in systole, SN — 62%, SP — 83%; with NC/C ratio of 2,1 for ALdiast criterion in an anterolateral view in diastole, SN — 54%, SP — 88%; with NC/C ratio of 2,1 for PLdiast criterion in a posterolateral view in diastole, SN — 46%, SP — 96%.Conclusion. Standard echocardiographic criteria are characterized by moderate sensitivity and low specificity. To improve the diagnostic accuracy of LVNC, the combined use of modified echocardiographic criteria is possible. As a screening of LVNC, using NC/C of 2,2 for the PLsist and NC/C of 2,3 for the PLsist to improve the specificity of the study should be useful.

The success and quality of large-scale epidemiological studies depends entirely on biomaterial quality. Therefore, when arranging the third Epidemiology of Cardiovascular Diseases and their Risk Factors in Regions of Russian Federation (ESSE-RF-3) study, increased attention was paid to specifics of collection, processing and further transportation of biological samples and related clinical and anthropometric data of participants from regional collection centers to Biobank.Aim. To develop a methodology for collection of high-quality biomaterials within the large-scale epidemiological study, involving the sampling, processing, freezing of blood and its derivatives (serum, plasma) in the regions, followed by transportation and storage of obtained biomaterial in the Biobank of National Medical Research Center for Therapy and Preventive Medicine (Moscow).Material and methods. To conduct the ESSE-RF-3 study, a design was developed, according to which the collection of venous blood samples in a total volume of 29,5 ml from each participant is planned in all participating regions in order to obtain and store samples of whole blood, serum and two types of plasma.Results. On the basis of international biobanking standards, ethical norms, experience from ESSE-RF and ESSE-RF-2, and literature data, a protocol for biobanking of blood and its derivatives was developed. The type and number of serum and plasma aliquots obtained, the required standard technical means and consumables, as well as logistic biomaterial requirements were determined. Training programs for regional participants were developed. By the beginning of August 2021, 180 thousand samples of whole blood, serum and plasma from more than 23 thousand participants from 28 Russian regions were collected, processed and stored.Conclusion. The presented work made it possible to assess and confirm the compliance of developed biobanking protocol with quality requirements. However, due to the coronavirus disease 2019 pandemic, by August 2021, the Biobank did not reach the maximum effectiveness predicted for the ESSE-RF-3 project.

Project of the Russian National Atherosclerosis SocietyIn 2016, Guidelines on the medical care organization to the patients with hereditary atherogenic lipid disorders in the regions of Russia were published, which described and presented the principles of routing patients with hereditary dyslipidemia and the organization of medical care for them within the current regulatory documents. In December 2018, the Russian Ministry of Health approved clinical guidelines for the diagnosis and treatment of familial hypercholesterolemia. Thus, persons with a severe hereditary dyslipidemia were able to get free medication with expensive lipid-lowering drugs and receive apheresis. Following the European ones, the Russian guidelines on the management of lipid metabolism disorders were updated: lower target low density lipoprotein cholesterol levels were adopted. In the Russian population, there is a high prevalence of hypercholesterolemia, including familial monogenic and polygenic types. Therefore, timely detection and routing to a lipid center or an office to a specialist (cardiologist, lipidologist), adequate and modern prescription of lipid-lowering therapy will make an important contribution not only to secondary, but also to primary prevention of atherosclerotic cardiovascular complications.

The clinical, instrumental and molecular-genetic studies for proband and family members for identification of family form of left ventricular noncompaction cardiomyopathy (LVNC) presented in the article. According to the results of the examination, the diagnosis LVNC was made. Drug therapy was adjusted, and a cardioverter defibrillator was implanted for the primary prevention of sudden cardiac death. Given the hereditary nature of the disease, family screening was conducted. By the family screening the disease was diagnosed in the mother of proband. Later, was made exome sequencing in a group of genes related to the development of left ventricular noncompaction cardiomyopathy. One likely pathogenic variant (rs1471414348, stop codon) in the TTN gene was detected. The discovered variant was validated by Sanger sequencing and was detected only in the proband and his mother, and was absent in other relatives. There were no other pathogenic and probably pathogenic variants in genes associated with the development of left ventricular noncompaction and other cardiomyopathies. As a result of family screening the new cases were diagnosed, the pathogenic variant of the TTN gene was identified, that is probably responsible for the development of the LVNC phenotype.

In accordance with modern clinical guidelines, the main aim of therapy for cardiovascular risk reducing is achievement of target level of lipid parameters. Some common diseases, medications prescribed in routine clinical practice, as well as dietary disorders can cause the development of lipid metabolism disorders, called secondary hyperlipidemias. Identification and treatment (or elimination) of secondary causes of hyperlipidemia may contribute to the effectiveness of treatment of patients with lipid metabolism disorders. This review presents the underlying conditions and pathogenetic mechanisms responsible for the development of secondary hyperlipidemia.

Aim. Russian multicenter register of familial hypercholesterolemia (FH) was transformed into Register of patients with FH and very high cardiovascular risk with insufficient effect of hypolipidemic therapy (RENESSANS Registry) in 2017 The aim of RENESSANS was maximal inclusion of patients not only with FH, but also those with atherosclerotic cardiovascular diseases (CVD), who did not achieve targeted level of low density lipoprotein cholesterol (LDL-C) using hypolipidemic drug therapy.Material and methods. The RENESSANS Registry is an open, national, observing study that includes patients with definite and probable (according to Dutch lipid clinic network and Simon Broome Registry criteria) heterozygous and homozygous FH, as well as patients of very high cardiovascular risk. There were designed two register forms: for patients with FH and for very high cardiovascular risk patients. Doctors filled out forms in paper and electronic variants. They took into consideration the risk factors of atherosclerosis and anamnesis of CVD, adherence to diet and hypolipidemic therapy. Concentrations of total cholesterol (TC), triglycerides (TG), high density lipoprotein cholesterol (HDL-C) were measured in blood serum in all centers. LDL-C level was defined according to Friedewald formula: LDL-C=TC-HDL-C-TG/2,2 (mmol/l).Results. The Registry consisted of 1208 FH patients and 497 patients with very high risk (average age 54±13 and 61±8, respectively, 37% men). Baseline levels of lipids were 9,4±2,3 and 6,9±1,5 mmol/l for TC, 6,6±2,1 and 4,5±1,3 mmol/l for LDL-C, respectively. The frequency of hypolipidemic therapy in both groups is 70%, while targeted level of LDL-C was achieved extremely rarely.Conclusion. The results show insufficient adherence and low effectiveness of standard hypolipidemic therapy both in patients with FH and very high cardiovascular risk. PCSK9 inhibitors are recommended for resistant hypercholesterolemia treatment. The RENESSANS Registry allows to improve FH diagnostics, to assess treatment effectiveness and choose patients who need treatment with PCSK9 inhibitors.

These guidelines represent all current aspects of etiology, diagnosis, and treatment of the clinical and statistical group of familial hypercholesterolemia in both adults and children in accordance with the requirements of the Ministry of Health of Russia.

The article presents the examination of three generations of a family with diagnosed left ventricular noncompaction (LVNC) and various phenotypic manifestations of the disease (isolated, hypertrophic and dilated type of LVNC). As a result of a molecular genetics tests, a previously undescribed single nucleotide deletion in the PRDM16 gene was revealed in all family members with the LVNC phenotype, leading to a frameshift mutation in exon 9 and the formation of a premature termination codon. This gene encodes a transcription factor responsible for after-birth suppressing the expression of genes involved in prenatal and postnatal development. Despite the presence of previous studies showing the relationship of the PRDM16 gene with LVNC development, currently there are insufficient data to prove the pathogenicity of the identified variant. However, the segregation of the symptomatic variant in three generations supports the association of the identified variant with LVNC. With the accumulation of information about changes in PRDM16 in patients with cardiomyopathies, it is possible to change the status of this gene and clarify its contribution to primary heart diseases.

The advances of biomedicine include the new technologies, diagnosis and treatment techniques, as well as the practical use of new types of biological targets, in particular, nucleic acids. Genomic deoxyribonucleic acid (DNA), extracellular DNA (exDNA) and microbiome DNA obtained from different types of samples (tissues, blood and its derivatives, feces, etc.) are used as objects of genetic research. The use of new technologies for DNA analysis required the development of standardized methods for processing biological samples in order to obtain high-quality DNA samples. The research uses various methods for collecting, preparing samples and storing various DNA-containing biomaterials and isolated DNA, as well as methods for assessing the quality of samples and biobank standards. It is obvious that the use of uniform standards will allow large-scale genetic research on the basis of biobanks and research laboratories. Specialists from professional organizations such as International Society for Biological and Environmental Repositories (ISBER), Biobanking and BioMolecular Resources Research Infrastructure-European Research Infrastructure Consortium (BBMRI-ERIC), European, Middle Eastern & African Society for Biopreservationa and Biobanking (ESBB) and the Russian National Association of Biobanks and Biobanking Professionals.

Aim. To study the effect of the shelf life of frozen whole blood samples in a biobank on the amount of released deoxyribonucleic acid (DNA).Material and methods. The study included whole blood samples placed in tubes with the anticoagulant EDTA (ethylenediaminetetraacetic acid at a concentration of 1,8 mg/ml) from participants in the epidemiological study ESSE-RF-1 and ESSE-RF-2 and cohort studies conducted at the National Medical Research Center for Therapy and Preventive Medicine. The samples were stored in the biobank of the National Medical Research Center for Therapy and Preventive Medicine at temperature from -22О C to -32О C. The shelf life from blood collection to DNA extraction ranged from several weeks to 11 years. DNA was extracted using QIAamp DNA Blood Mini Kit (250) and 96 Blood Kit (Qiagen, Germany). Statistical analysis was performed using the R 3.6.1 software. To analyze the association of blood storage time with the logarithm of DNA concentration, a linear regression was used.Results. The analysis included data on the DNA concentration of 5405 samples. Multivariate regression showed that the blood shelf life was significantly associated with a decrease in concentration by 3,92% (3,16-4,68) for each year of storage (p

Current prophylactic actions prevent or significantly delay the majority of cardiovascular diseases (CVD). Various factors are interconnected and affect a person throughout his life, determining the risk of CVD. This indicates the need for preventive measures at all stages of life and even before birth. The beneficial effects of CVD prevention are realized through various genetic, epigenetic and metabolic mechanisms. Due to the fact that many risk factors for CVD have a cumulative effect, the introduction of preventive measures from the earliest life stages will be most effective. The purpose of the article is to consider various aspects of CVD prevention in the preconceptional, prenatal and infant periods.

The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene. A specific feature of this case is the phenotypic heterogeneity of the mutation — a combination of hypertrophic cardiomyopathy and left ventricular non-compaction in family members. Attention is drawn to the various severity of clinical manifestations in relatives of carriers of mutation: from asymptomatic to severe heart failure and acute cerebrovascular accident.

This article presents the results of studies on high prevalence of left ventricular noncompaction (LVNC) in patients with secondary hemochromatosis (SH). We also included case reports of patients with SH and LVNC and compared imaging data using modified modern criteria for LVNC and molecular genetic testing (MGT). In patients with cardiac hemochromatosis, left ventricular noncompaction is noted, the nature of which is most likely secondary. In order to confirm this hypothesis, a prospective observational study, including family screening and MGT, is required.

Currently, the concept of atherosclerosis has undergone a number of changes. On the one hand, carotid atherosclerosis, like femoral, is a disease that must be treated directly, and on the other hand, it is a modifier of cardiovascular risk. This review is devoted to aspects of cardiovascular risk stratification depending on the severity and progression of carotid and femoral artery atherosclerosis.