Annals of the Russian academy of medical sciencesAnnals of the Russian academy of medical sciencesВестник Российской академии медицинских наук0869-60472414-3545"Paediatrician" Publishers LLC122810.15690/vramn1228CARDIOLOGY AND CARDIOVASCULAR SURGERY: CURRENT ISSUESАКТУАЛЬНЫЕ ВОПРОСЫ КАРДИОЛОГИИ И СЕРДЕЧНО-СОСУДИСТОЙ ХИРУРГИИReview ArticleGenetic aspects of Ebstein anomaly and related heart diseasesГенетические аспекты аномалии Эбштейна и связанных с ней заболеваний сердцаhttps://orcid.org/0000-0001-9692-2322561854766004958-8933PenyaevaElena V.ПеняеваЕлена Владимировна
Russian Federation

MD, Senior Research Associate

с.н.с. отделения патологической анатомии с прозектурой

penyaeva7@yandex.ruA.N. Bakoulev National Medical Reresearch Center for Cardiovascular SurgeryНациональный медицинский исследовательский центр сердечно-сосудистой хирургии им. А.Н. Бакулева1204202176167741110201905062020Copyright ©; 2021, "Paediatrician" Publishers LLCCopyright ©; 2021, Издательство "Педиатръ"2021"Paediatrician" Publishers LLCИздательство "Педиатръ"https://vestnikramn.spr-journal.ru/jour/about/submissionshttps://vestnikramn.spr-journal.ru/jour/article/view/1228

Ebstein anomaly is a congenital heart disease, which is characterized by the presence of atrialized portion of the right ventricle, formed as a result of displacement of the tricuspid valve leaflets into the right ventricle and their partial adherence to the underlying myocardium. Atrialized portion in the right ventricle occupies the space between the fibrous annulus of the right atrioventricular orifice and the functional annulus of tricuspid valve, which represents a zone of closure of free (non-adherent to the underlying myocardium) edges of its leaflets. Ebstein anomaly is very rarely isolated, and can be combined with a number of heart diseases and be an integral part of hereditary syndromes. Currently, the role of genetic research in the investigation of the etiology of human diseases as well as understanding of the relationship between different diseases is increasing. The review presents literature data on the combination of Ebstein anomaly with other heart diseases (congenital heart diseases, Wolf-Parkinson-White syndrome, cardiomyopathies, including left ventricular noncompaction), inter alia, within the scope of hereditary syndromes (Noonan syndrome, 8p deletion syndrome, 18q deletion syndrome, 1p36 deletion syndrome, Pierre Robin syndrome). Genetic factors (gene and chromosomal mutations) lying at the core of Ebstein anomaly, as well as heart diseases combined with it, are highlighted. The analysis of published data suggests that Ebstein anomaly is a monogenic disease, and is characterized by allelic and locus genetic heterogeneity. The combination of Ebstein anomaly with other heart diseases is based on their genetic linkage.

Аномалия Эбштейна – врожденный порок сердца, для которого характерно наличие атриализованной части в правом желудочке, сформированной в результате смещения створок трехстворчатого клапана в правый желудочек и частичного сращения их с подлежащим миокардом. Атриализованная часть в правом желудочке занимает пространство между фиброзным кольцом правого предсердно-желудочкового отверстия и функциональным кольцом трехстворчатого клапана, представляющим собой зону смыкания свободных (несращенных с подлежащим миокардом) краев его створок. Аномалия Эбштейна очень редко бывает изолированной, может сочетаться с рядом болезней сердца, являться интегральной частью наследственных синдромов. В настоящее время возрастает роль генетических исследований в изучении этиологии заболеваний человека и понимании связи разных заболеваний друг с другом. В обзоре представлены данные литературы о cочетании аномалии Эбштейна с другими заболеваниями сердца (врожденные пороки сердца, синдром Вольфа-Паркинсона-Уайта, кардиомиопатии, включая некомпактный миокард левого желудочка), в том числе в рамках наследственных синдромов (синдром Noonan, синдром делеции 8р, синдром делеции 18q, синдром делеции 1р36, синдром Пьера Робена). Освещаются генетические факторы (генные и хромосомные мутации), лежащие в основе аномалии Эбштейна и сочетающихся с ней заболеваний сердца. Анализ данных литературы позволяет заключить, что аномалия Эбштейна является моногенным заболеванием. Для нее характерна аллельная и локусная генетическая гетерогенность. В основе сочетания аномалии Эбштейна с другими заболеваниями сердца лежит их генетическая связь.

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