vestarВестник аритмологииJournal of Arrhythmology1561-86412658-7327НАО «Инкарт»10.35336/VA-1515vestar-1534Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL ARTICLESАритмогенная кардиомиопатия у детей: генетические основы и фенотипические проявления. Опыт одного центраArrhythmogenic cardiomyopathy in children: genetic basis and phenotypic manifestations. A single center experiencehttps://orcid.org/0000-0003-4720-9023КофейниковаО. А.KofeynikovaO. A.

Кофейникова Ольга Александровна 

Санкт-Петербург, ул. Аккуратова, д. 2 

Kofeynikova Olga 

Saint-Petersburg, 2 Akkuratova str 

kofeolyaa@gmail.comhttps://orcid.org/0000-0002-5027-0565ЧуеваК. А.ChuevaK. A.

Санкт-Петербург, ул. Аккуратова, д. 2 

Saint-Petersburg, 2 Akkuratova str 

https://orcid.org/0000-0002-9349-6257КостареваА. А.KostarevaA. A.

Санкт-Петербург, ул. Аккуратова, д. 2 

Saint-Petersburg, 2 Akkuratova str 

https://orcid.org/0000-0002-2207-8920ФетисоваС. Г.FetisovaS. G.

Санкт-Петербург, ул. Аккуратова, д. 2 

Saint-Petersburg, 2 Akkuratova str 

ЛебедевД. С.LebedevD. S.

Санкт-Петербург, ул. Аккуратова, д. 2 

Saint-Petersburg, 2 Akkuratova str 

https://orcid.org/0000-0001-9948-7303ПервунинаТ. М.PervuninaT. M

Санкт-Петербург, ул. Аккуратова, д. 2 

Saint-Petersburg, 2 Akkuratova str 

https://orcid.org/0000-0001-7336-4102ВасичкинаЕ. С.VasichkinaE. S.

Санкт-Петербург, ул. Аккуратова, д. 2 

Saint-Petersburg, 2 Akkuratova str 

ФГБУ «НМИЦ им. В. А. Алмазова» Минздрава РоссииРоссияAlmazov National Medical Research CenterRussian Federation2025130620253224251Copyright © Кофейникова О.А., Чуева К.А., Костарева А.А., Фетисова С.Г., Лебедев Д.С., Первунина Т.М., Васичкина Е.С., 20252025Кофейникова О.А., Чуева К.А., Костарева А.А., Фетисова С.Г., Лебедев Д.С., Первунина Т.М., Васичкина Е.С.Kofeynikova O.A., Chueva K.A., Kostareva A.A., Fetisova S.G., Lebedev D.S., Pervunina T.M., Vasichkina E.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vestar.elpub.ru/jour/article/view/1534Цель

Цель. Изучить клинические проявления, фенотипические варианты и генетические особенности, а также исходы у детей с аритмогенной кардиомиопатий (АКМП).

Материал и методы исследования. Группу исследования составили 24 пациента <18 лет с установленным диагнозом АКМП, находившихся в под наблюдением с 2011 по 2024 гг. Медиана возраста диагностики АКМП составила 13 лет [12-15]. Были проанализированы следующие данные: жалобы и анамнез, лабораторные показатели (биохимических маркеры воспаления и сывороточные маркеры повреждения миокарда, уровень NT-proBNP), электрокардиограмма, суточное мониторирование ЭКГ, результаты эхокардиографии, магнитно-резонансной томографии сердца, селективной коронарографии, гистологического и молекулярно-генетического исследования. Медиана длительности наблюдения за пациентами АКМП составила 27 месяцев [16,5-38].

Результаты

Результаты. Все пациенты были неродственными пробандами. У всех детей дебютом заболевания явились бессимптомные желудочковые аритмии (ЖА). Двадцать три (95,8%) пациента жаловались на: сердцебиения - 21 (87,5%) ребенок, синкопальные состояния - 14 (58,3%) детей, симптомы сердечной недостаточности - 12 (50,0%), 4 (16,7%) отмечали изолированную боль в груди. Пять (20,8%) детей имели «горячую» фазу. При анализе аритмических данных был выявлен ряд особенностей АКМП в детском возрасте: ЖА носили полиморфный характер, суточная плотность ЖА составляла менее 20% на момент диагностики, наличие поздних потенциалов желудочков у большинства пациентов, ряд критериев заболевания из группы «аномалий реполяризации» обладали низкой информативностью. В процессе наблюдения 9 (37,5%) детей имели праводоминатную форму АКМП, 7 (29,9%) - АКМП с поражением левого желудочка и 8 (33,3%) - бивентрикулярную форму. Десмосомные мутации были обнаружены у 16 детей (66,7%), генетические варианты в недесмосомных генах - у 8 пациентов (33,3%)

Заключение

Заключение. Показано, что АКМП может проявляться в раннем возрасте, что связано с развитием аритмических событий и/или тяжелым течением сердечной недостаточности.

Aim

Aim. To investigate clinical manifestations, phenotypic variants, genetic features, and outcomes in children with arrhythmogenic cardiomyopathy (ACM).

Methods

Methods. The study group consisted of 24 patients (< 18 years of age) with ACM, who were under observation from 2011 to 2024. The median age at ACM diagnosis was 13 years [12-15]. The following data were analyzed: complaints and medical history, laboratory parameters (biochemical markers of inflammation and serum myocardial damage mar­ kers, NT-proBNP levels), electrocardiogram, Holter monitoring, echocardiography results, cardiac magnetic resonance imaging, selective coronary angiography, histological and molecular genetic studies. The median follow-up duration for ACM patients was 27 months [16.5-38].

Results

Results. All patients were unrelated probands. All children presented with asymptomatic ventricular arrhythmias (VA) as the initial manifestation of the disease, 23 (95.8%) patients had complaints: palpitations in 21 (87.5%) children, syncope in 14 (58.3%) children, heart failure symptoms in 12 (50.0%), and isolated chest pain in 4 (16.7%) patients. 5 (20.8%) children had a “hot” phase. Analysis of arrhythmic data revealed several features of ACM in childhood: VAs were polymorphic, daily VA density was less than 20% at the time of diagnosis, presence of late ventricular potentials in most patients, and several criteria from the «repolarization abnormalities» group had low informativeness. During follow-up, 9 (37.5%) children had the right-dominant ACM, 7 (29.9%) had ACM with left ventricle involvement, and 8 (33.3%) had biventricular form. Desmosomal mutations were found in 16 children (66.7%), non-desmosomal gene variants in 8 patients (33.3%).

Conclusion

Conclusion. It has been shown that ACM can manifest at an early age and is associated with the development of arrhythmic events and/or severe heart failure. Increasing awareness among physicians about the early onset of ACM is crucial for timely treatment of heart failure, prevention of sudden cardiac death, and family screening.

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The authors declare that there are no conflicts of interest present.