Almanac of Clinical MedicineAlmanac of Clinical MedicineАльманах клинической медицины2072-05052587-9294Moscow Regional Research and Clinical Institute (MONIKI)769910.18786/2072-0505-2023-51-022CLINICAL CASESКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯResearch ArticleCASQ2: clinical and genetic insights into catecholaminergic polymorphic ventricular tachycardia across three familiesCASQ2: клинико-генетические особенности катехоламинергической полиморфной желудочковой тахикардии в трех семьяхhttps://orcid.org/0000-0003-4214-6078KulbachinskayaEkaterina K.КульбачинскаяЕкатерина Константиновна
Russian Federation

Pediatric Cardiologist, Assistant, Chair of Innovative Pediatrics and Pediatric Surgery, Faculty of Additional Professional Education, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery

врач детский кардиолог, ассистент кафедры инновационной педиатрии и детской хирургии факультета дополнительного профессионального образования Научно-исследовательского клинического института педиатрии и детской хирургии имени академика Ю.Е. Вельтищева

katerina.mgmu@mail.ruhttps://orcid.org/0000-0002-2119-169XBereznitskayaVera V.БерезницкаяВера Васильевна
Russian Federation

MD, PhD, Head of Pediatric Cardiology Department, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery

канд. мед. наук, заведующая детским кардиологическим отделением нарушений сердечного ритма Научно-исследовательского клинического института педиатрии и детской хирургии имени академика Ю.Е. Вельтищева

vera@pedklin.ruN.I. Pirogov Russian National Research Medical UniversityФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава России020820235131921991903202325072023Copyright ©; 2023, Kulbachinskaya E.K., Bereznitskaya V.V.Copyright ©; 2023, Кульбачинская Е.К., Березницкая В.В.2023Kulbachinskaya E.K., Bereznitskaya V.V.Кульбачинская Е.К., Березницкая В.В.https://creativecommons.org/licenses/by-nc/4.0https://almclinmed.ru/jour/article/view/7699

Catecholaminergic polymorphic ventricular tachycardia is a primary channelopathy with a high mortality rate if left untreated. In 3 to 5% of catecholaminergic polymorphic ventricular tachycardia patients, mutations in the CASQ2 gene, either in a homozygous or compound heterozygous form, have been identified. In this article, we present a clinical case series of patients from three unrelated families with mutations in the CASQ2 gene, including three novel mutations (p.Leu167Pro, p.Asp325GlyfsTer7, and p.Glu259Ter). All our patients with homozygous or compound heterozygous CASQ2 gene mutations experienced a severe disease course, with early manifestations and resistance to specific anti-arrhythmic treatment, including beta-blockers. They exhibited a wide range of heart rhythm abnormalities, both ventricular and supraventricular, and had a high risk of sudden cardiac death. In all cases, ventricular heart arrhythmias persisted despite regular treatment with specific anti-arrhythmic agents, unless selective left-sided sympathectomy had been performed. The management of this patient group emphasized an individualized approach, combining medical and surgical treatment methods tailored to each patient's unique needs and condition.

Катехоламинергическая полиморфная желудочковая тахикардия относится к первичным каналопатиям и в отсутствие лечения характеризуется высоким уровнем летальности. Мутации в гене CASQ2 в гомозиготной или компаунд-гетерозиготной форме выявляются у 3–5% больных с катехоламинергической полиморфной желудочковой тахикардией. Мы представляем серию клинических наблюдений больных из трех неродственных семей с мутациями в гене CASQ2; три мутации (p.Leu167Pro, p.Asp325GlyfsTer7 и p. Glu259Ter) описаны нами впервые. У всех наших пациентов с мутациями в гене CASQ2 в гомозиготной или компаунд-гетерозиготной форме отмечалось тяжелое течение заболевания: ранняя манифестация, резистентность к специфической антиаритмической терапии бета-адреноблокаторами, полиморфизм нарушений сердечного ритма (наличие как желудочковых, так и наджелудочковых нарушений ритма), высокий риск развития внезапной сердечной смерти. Сохранение желудочковых нарушений сердечного ритма, несмотря на регулярный прием специфической антиаритмической терапии, отмечено во всех случаях, когда не была выполнена селективная левосторонняя симпатэктомия. Индивидуализированный подход к выбору медикаментозных и оперативных методов лечения был краеугольным камнем в ведении данной группы больных.

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