КАРДИОГЕНЕТИКА ГЕНЕТИЧЕСКИЕ ПРЕДИКТОРЫ КАДИОЭМБОЛИЧЕСКОГО ИНСУЛЬТА У БОЛЬНЫХ С ФИБРИЛЛЯЦИЕЙ ПРЕДСЕРДИЙШульман В. А

The accumulation of cases of idiopathic complete blockade of the right bundle branch in the Krasnoyarsk families was analyzed. The fact of the increase in number of cases of hereditary burdened conductivity disturbance along the right bundle branch was revealed in the Krasnoyarsk families for a ten-year period (2001-2011).

Проведен анализ накопления случаев атриовентрикулярных блокад в семьях г. Красноярска за десятилетний период (2001–2011 гг.). Оценена семейная агрегация атриовентрикулярных блокад среди родственников пробандов I, II, III степени родства, а также среди мужчин и женщин в отдельности. Различия по исследуемым показателям рассчитаны с использованием критерия χ2 и точного критерия Фишера. Выявлено увеличение числа случаев атриовентрикулярных блокад среди родственников пробандов, преимущественно I степени родства. Установлено, что распространенность заболевания среди родственников пробандов существенно превышает популяционную частоту нозологии. Наиболее часто нарушение атриовентрикулярной проводимости встречается среди женщин в возрасте до 19 лет. Определена пенетрантность атриовентрикулярных блокад в семьях г. Красноярска с помощью сибсового метода сегрегационного анализа Вайнберга. Пенетрантность атриовентрикулярных блокад в семьях г. Красноярска составляет 69,56 %.

Clinical and genetic peculiarities of atrial fibrillation S.Y. Nikulina, V.A. Schulman, O.O. Kuznetsova, N.V. Aksjutina, P.A. Shesternja, A.A. Chernova, V.N. Maksimov, I.V. Kulikov, S.N. Ustinov, Y.L. Kazarinova, A.G. Romashchenko, M.I. Voevoda. Krasnoyarsk State Medical Academy Research Institute of Therapy, Siberian Branch of Russian Academy of Medical Sciences, Novosibirsk Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk Aim. To study inheritance patterns of atrial fibrillation (AF) and association of primary and secondary AF with gene polymorphism of β1-adrenoreceptors. Material and methods. 103 probands with AF and their 301 relatives of I, II, III degrees (basic group) and 82 probands without heart diseases and their 163 relatives of I and II degrees (control group) were examined. Examination included evaluation of electrophysiological indicators of sinoatrial node, electrocardiogram monitoring, veloergometry, echocardiography as well as assessment of gene polymorphism of β1-adrenoretseptors. Results. Accumulation of AF in probands families was founded. Segregation analysis of idiopathic AF revealed autosomal-dominant type of its inheritance. Сonclusion. The heterozygote genotype of gene β1-adrenoretseptors Ser49Gly is one of genetic predictors of primary and secondary AF.

The purpose of the research: to establish probability and regularities of hereditary of atrial fibrillation (AF) in families, to study connection of primary and secondary AF with polymorphism of a gene B1-adrenoreceptors. 99 probands are presented in this research work with diagnosed AF and their 287 relatives I, II, III degrees of relationship. These families are main group of our research. Inspite of probands families with AF we also examined 82 probands with absence of clinico-electrophisiological displays of the heart diseases and 163 their relatives of I and II degrees of relationship, the second (control) group. In this research the fact of family aggregation of disease in probands families with AF has been established. Heterozygous genotype of a gene of B1-adrenoreceptors (Ser49Gly) can be examined as one of genetic predictors in occurrence of Both primary and secondary AF.

The control group consists of 82 probands and 163 their relatives (I, II relation degree) without clinic and electrocardiographic indications of the heart disease. The fact of family aggregation of the disease in probands' families with auricles' fibrillation was revealed in this research. During the molecular-genetic analysis we revealed, that heterozygous variant of s1 adrenoreceptor Ser49Gly can be regards as one of the genetic predictors of both primary and second fibrillation of auricles.

The family examination of 103 probands and 301 their relative (I,II,III relation degree ) with fibrillation of auricles was made (basic group). Control group consists of 82 probands and 163 their relatives (I, II relation degree) without clinic and electrocardiographic indications of heart disease. Accumulation of fibrillation of auricles was revealed in these families. Autosomal and dominant inheritance type of fibrillation of auricles was determined. Heterozygous variant of s1 adrenoreceptor Ser49Gly can be regards as one of the genetic predictors of fibrillation of auricles. Genotype Gly49 Gly also can be a predictor of fibrillation of auricles.