A New Leu714Arg Variant in the Converter Domain of is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy.

Background: Hypertrophic cardiomyopathy is the most frequent autosomal dominant disease, yet due to genetic heterogeneity, incomplete penetrance, and phenotype variability, the prognosis of the disease course in pathogenic variant carriers remains an issue. Identifying common patterns among the effects of different genetic variants is important.

Methods: We investigated the cause of familial hypertrophic cardiomyopathy (HCM) in a family with two patients suffering from a particularly severe disease.

[Dynamics of left ventricular longitudinal function in patients with arterial hypertension during therapy with angiotensin converting enzyme inhibitor moexipril].

Aim: To assess left ventricular longitudinal systolic and diastolic function in patients with arterial hypertension in whom regression of left ventricular (LV) hypertrophy (LVH) occurred at the background of long term therapy with angiotensin converting enzyme inhibitor moexipril and hydrochlorothiazide.

Material And Methods: Analysis was fulfilled in 44 patients (age 51.76+/-5.

[ACE and AGTR1 genes polymorphisms in left ventricular hypertrophy pathogenesis in humans].

The role of A2350G polymorphism in exon 17 of the ACE gene and A1166C - in 3'-UTR of the AGTR1 in the pathogenesis of left ventricular hypertrophy was studied in patients with essential hypertension (EH) and arterial hypertension combined with diabetes mellitus type 2 (AH + DM2). Patients with EH and AH + DM2 did not differ from the control sample of healthy individuals by allele or genotype frequencies. However, an association of both polymorphisms with LVH was detected in EH patients.

[Polymorphic markers of GNB3 (C825T), AGTR1 (A1166C) and ACE (A2350G and I/D) genes in patients with arterial hypertension combined with diabetes mellitus type 2].

Aim: To elicit correlations of polymorphic markers of GNB3 (C825T), AGTR1 (A1166C), ACE (A2350G and I/D) genes with arterial pressure, left ventricular hypertrophy (LVH) and blood concentrations of proinflammatory cytokines in hypertensive patients with diabetes mellitus type 2 (DM2).

Material And Methods: Clinical parameters (24-h arterial pressure profile, echocardiographic findings, immunoenzymes level) were studied in 89 hypertensive patients with DM2. These patients had different genotypes by the studied allele variants of the genes determined by polymerase chain reaction.

[MtDNA and Y-chromosome lineages in the Yakut population].

The structure of female (mtDNA) and male (Y-chromosome haplotypes) lineages in the Yakut population was examined. To determine mtDNA haplotypes, sequencing of hypervariable segment I and typing of haplotype-specific point substitutions in the other parts of the mtDNA molecule were performed. Y haplogroups were identified through typing of biallelic polymorphisms in the nonrecombining part of the chromosome.

[Genetic peculiarity of the yakut population from the autosomal loci data].

The autosomal gene pool of Yakuts was analyzed with a panel of polymorphic Alu insertions. The observed allele frequencies were typical for other Asian ethnic groups. Genetic differentiation of three Yakut populations was relatively high, 2%.

[The relationship between the 24 hour arterial pressure profile with heart changes in patients with essential hypertension].

A 24-h profile of arterial pressure (AP), structural-geometrical changes of the left ventricle (LV) and severity of hypertensive heart were compared in 47 patients with essential hypertension. Absolute AP and LV geometric models were not related. In patients with concentric LV hypertrophy, the time index (TI) of night systolic hypertension was significantly higher than TI in excentric LV hypertrophy.

[Polymorphism of angiotensin-converting enzyme and endothelial nitric oxide synthase genes in people with arterial hypertension, left ventricular hypertrophy, and hypertrophic cardiomyopathy].

Data on polymorphism of the angiotensin-converting enzyme (ACE) and endothelial cell nitric oxide synthase (NOS3) genes in patients having arterial hypertension (AH) with or without left ventricular hypertrophy (LVH) and those with hypertrophic cardiomyopathy (HCM) are presented. An association between polymorphism for the ACE and NOS3 loci and the LVH index among AH patients with LVH and HCM was shown. In AH patients, an association between the NOS3 locus polymorphism and some parameters of blood pressure was revealed.

[Genomic studies of hereditary cardiomyopathies].

Cardiomyopathies (CMP) clinically and genetically belong to the heterogeneous group of myocardial diseases. Among them, three major clinical forms (hypertrophic, dilated, and restricted) are distinguished. Genetic factors play a substantial role in the etiology of dilated and hypertrophic CMP; family cases constitute more than 20% of these forms.