cardioКардиологияKardiologiia0022-90402412-5660Kardiomag10.18087/cardio.2025.4.n2877cardio-2877Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASE REPORTКатехоламинэргическая полиморфная желудочковая тахикардия, вызванная гомозиготным патогенным вариантом в гене кальсеквестрина 2 (клинический случай)Catecholaminergic Polymorphic Ventricular Tachycardia Caused by a Homozygous Pathogenic Variant in Calsequestrin 2 Genehttps://orcid.org/0000-0001-9917-5932КомиссароваС. М.KomissarovaS. M.

д.м.н., профессор, главный научный сотрудник лаборатории хронической сердечной недостаточности 

MD, PhD, Professor, chief researcher, Laboratory of Chronic Heart Failure

kom_svet@mail.ruhttps://orcid.org/0000-0003-4721-9109ЧаковаН. Н.ChakovaN. N.

к.б.н., ведущий научный сотрудник лаборатории генетики животных 

PhD, leading researcher, Laboratory of Animal Genetics

chaknat@mail.ruhttps://orcid.org/0000-0002-3566-7644НиязоваС. С.NiyazovaS. S.

младший научный сотрудник лаборатории генетики животных 

junior researcher, Laboratory of Animal Genetics

kruglenko_sveta@tut.byhttps://orcid.org/0000-0001-7562-131XДолматовичТ. В.DolmatovichT. V.

к.б.н., ведущий научный сотрудник лаборатории генетики животных 

PhD, leading researcher, Laboratory of Animal Genetics

t.dolmatovich@igc.byhttps://orcid.org/0009-0009-9488-4145Троянова-ЩуцкаяТ. А.Troyanova-ShchutskaiaT. A.

к.м.н., заведующий кардиологическим отделением 

MD, PhD, head of cardiology department

dr.troyanova@gmail.comhttps://orcid.org/0000-0002-1986-1367РинейскаяН. М.RineiskaN. M.

к.м.н., научный сотрудник лаборатории хронической сердечной недостаточности 

MD, PhD, research fellow, Laboratory of Chronic Heart Failure

nadya.rin@gmail.comГУ «Республиканский научно-практический центр «Кардиология», МинскБеларусьRepublican Scientific and Practical Center “Cardiology”, MinskBelarusГНУ «Институт генетики и цитологии НАН Беларуси», МинскБеларусьInstitute of Genetics and Cytology of the Belarus National Academy of Sciences, MinskBelarus2025300420256545764Copyright © Kardiomag, 20252025KardiomagKardiomaghttps://cardio.elpub.ru/jour/about/submissions#copyrightNoticehttps://cardio.elpub.ru/jour/article/view/2877

Представлено клиническое наблюдение 19‑летнего пациента с катехоламинергической полиморфной желудочковой тахикардией, обусловленной патогенным гомозиготным вариантом р.Ile193Asnfs*17 (rs397516643) в гене CASQ2, ранними проявлениями которой были рецидивирующие синкопальные состояния при эмоциональном напряжении, наджелудочковые и полиморфные желудочковые нарушения ритма в отсутствие структурных изменений в сердце. Показана эволюция нарушений ритма за период наблюдения. Обсуждены вопросы стратификации риска внезапной сердечной смерти и стратегия ее профилактики при данной патологии.

The article presents a clinical case of a 19-year-old patient with catecholaminergic polymorphic ventricular tachycardia caused by the pathogenic homozygous variant p.Ile193Asnfs*17 (rs397516643) in the CASQ2 gene, the early manifestations of which were recurrent syncope during emotional stress, supraventricular and polymorphic ventricular arrhythmias in the absence of structural changes in the heart. The article showed the evolution of heart rhythm disorders during the observation period. The authors discussed the issues of risk stratification for sudden cardiac death and the strategy for its prevention in this pathology.

Катехоламинергическая полиморфная желудочковая тахикардияген CASQ2рецидивирующие синкопенаджелудочковая тахикардияполиморфная желудочковая тахикардияCatecholaminergic polymorphic ventricular tachycardiaCASQ2 generecurrent syncopesupraventricular tachycardiapolymorphic ventricular tachycardiaРабота выполнена в рамках мероприятия 17 (18) «Разработать и внедрить метод оценки риска внезапной сердечной смерти у пациентов с идиопатическими желудочковыми тахикардиями с использованием технологии высокопроизводительного секвенирования» подпрограммы 1 «Инновационные биотехнологии» Государственной программы «Наукоемкие технологии и техника», 2022–2024 гг. 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The authors declare that there are no conflicts of interest present.