SummaryLong QT syndrome (LQTS) has great genetic heterogeneity: more than 500 mutations have been described in several genes. Despite many advances, a genetic diagnosis still cannot be established in 25-30% of patients. The aim of the present study was to perform genetic evaluation in 9 Russian families with LQTS; here we report the results of 4 positive probands and their relatives (a total of 16 individuals). All subjects underwent clinical examination, 12-lead ECG, and Holter monitoring. Genetic analysis of the 14 genes mainly involved in LQTS was performed using a next-generation sequencing approach. We identified two new mutations (KCNQ1 gene) and 6 known mutations (AKAP9, ANK2, KCNE1 and KCNJ2 genes) in 4 out of 9 probands, some of which have already been described in association with LQTS. Segregation studies suggest a possible causative role for KCNQ1 p.(Leu342Pro), AKAP9 p.(Arg1609Lys), KCNE1 p.(Asp85Asn), and KCNJ2 p.(Arg82Gln) variations. Our study confirmed the high genetic heterogeneity of this disease and highlights the difficulties to reveal clear pathogenic genotypes also in large pedigrees. To the best of our knowledge, this is the first genetic study of LQTS patients from Russian families. (Int Heart J 2017; 58: 81-87)

A search was made for publications on modern methods for determining cardiovascular risk in young people with positive family history for early cardiovascular events. The use of various screening options allows timely identification of patients with heterozygous familial hypercholesterolemia who have a high cardiovascular risk. The most effective method is cascade screening. Cardiovascular risk assessment systems that include a family history of early cardiovascular events and lipid profiles in individuals under 40 years of age provide prevention of atherosclerosis. In the diagnosis of risk, the lipoprotein (a) is of particular clinical importance, elevated concentrations of which are associated with a high risk of vascular damage and an unfavorable course of atherosclerosis.

Objective of the research: to study the results of levosimendan use in young children with heart failure (HF) of functional class IV (FC). Materials and methods: the analysis of observation of patients who received levosimendan: 2 with cardiomyopathies (CMP), 12 with congenital heart defects (CHD). The drug was administered intravenously 0,2 μg/kg/min. Results: in patients with CMP, the ejection fraction doubled after administration of levosimendan, in children with CHD heart contractility increased by 18%, and pulmonary artery pressure decreased by 17 mm Hg. There were no undesirable effects. Conclusion: administration of levosimendan provides an increase in cardiac output and a decrease in pulmonary resistance in children with HF IV FC without undesirable effects.

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Objective of the study: to study the role of nitric oxide (NO) in adaptive reactions of the circulatory system in premature infants with transient myocardial ischemia (TMI). Materials and methods of research: a clinical, prospective, comparative study was carried out from 2016 to 2018. 82 infants with gestational age of 31–36 weeks who have had respiratory failure were included. Newborns were divided into groups: 1st – 14 newborns with TMI ECG criteria and troponin I (TrI) >0.139 ng/ml, 2nd – 39 newborns with TMI ECG criteria and TrI<0.139 ng/ml, 3rd – 29 children with normal ECG and TrI<0.139 ng/ml. In the early neonatal period, the clinical status, blood gas analysis, ECG, echocardiography and determination of TrI and NO were carried out. Quantitative data are presented as median, 25th and 75th percentiles; qualitative – in absolute values and %. The statistical significance was assessed by the Mann–Whitney test, the analysis of the relationship was assessed by the Spearman's rank correlation coefficient. Results: the level of NO by the 7th day of life in premature newborns of the 1st group increased 3.8 times, in the 2nd and 3rd groups – 1.7 and 2.5 times. A correlation relationship was revealed between TrI and NO on the 7th day of life (r=0.793, p=0.006), between NO and pH (r=–0.738, p=0.036), NO and pCO2 (r=0.857, p=0.006) on the 1st day. Also, on the 1st day there was a statistically significant increase in the end diastolic (EDS) and end systolic sizes (EDS) of the left ventricle (LV), the relationship of LV EDS with NO (r=0.722, p=0.042) and TrI (r=0.666, p=0.049), as well as NO with the LA size (r=0.731, p=0.038) in the 1st group. Conclusions: in premature infants with TMI and destructive changes in the myocardium, an increase in NO is probably necessary to optimize LV contractility and compensate for damage to cardiomyocytes. In children with TMI in the absence of myocardial injury, a compensatory increase in NO contributes to limiting the effects of hypoxia by functional disorders of LV, which persist by the end of the early neonatal period.