transmedТрансляционная медицинаTranslational Medicine2311-44952410-5155Almazov National Medical Research Centre, Saint Petersburg, Russia10.18705/2311-4495-2025-12-1-6-14ZARDRCtransmed-898Research ArticleПЕДИАТРИЯPEDIATRICSСравнительная информативность применения различных таргетных панелей при генетической диагностике гипертрофической кардиомиопатии у детейComparative informativeness of various targeted panels in the genetic diagnosis of hypertrophic cardiomyopathy in childrenhttps://orcid.org/0000-0002-2207-8920ФетисоваС. Г.FetisovaS. Г.

Фетисова Светлана Григорьевна, младший научный сотрудник НИЦ неизвестных, редких и генетически обусловленных заболеваний НЦМУ «Центр персонализированной медицины», врач — детский кардиолог отделения кардиологии и медицинской реабилитации детского лечебно-реабилитационного комплекса Института перинатологии и педиатрии ФГБУ «НМИЦ им. В. А. Алмазова» Минздрава России 

ул. Аккуратова, д. 2, Санкт-Петербург, 197341 

Svetlana G. Fetisova, Junior Researcher, Research Institute of Unknown, Rare and Genetically Caused Diseases, World-Class Research Centre for Personalized Medicine; Pediatric Cardiologist, Department of Pediatric Cardiology and Medical Rehabilitation of Perinatology and Pediatrics of the Almazov National Medical Research Centre 

 Akkuratova str., 2, Saint Petersburg,197341. 

elemax2009@mail.ruhttps://orcid.org/0000-0001-6727-4231МельникО. В.MelnikO. V.

Мельник Олеся Владимировна, к.м.н., старший научный сотрудник НИЛ молекулярно-клеточного моделирования и генной терапии НЦМУ «Центр персонализированной медицины» 

Санкт-Петербург 

Olesya V. Melnik, candidate of medical sciences, Senior Researcher, Research Laboratory of Molecular Cellular Modeling and Gene Therapy, World-Class Research Centre for Personalized Medicine 

 Saint Petersburg 

orangelove@yandex.ruhttps://orcid.org/0000-0001-8950-8617ФомичеваЮ. В.FomichevaY. V.

Фомичева Юлия Васильевна, врач — лабораторный генетик центральной клинико-диагностической лаборатории 

Санкт-Петербург 

Yulia V. Fomicheva, laboratory geneticist 

 Saint Petersburg 

fomicheva_yuv@almazovcentre.ruhttps://orcid.org/0000-0001-7833-7840СокольниковаП. С.SokolnikovaP. S.

Сокольникова Полина Сергеевна, врач — лабораторный генетик центральной клинико-диагностической лаборатории 

Санкт-Петербург 

Polina S. Sokolnikova, laboratory geneticist 

 Saint Petersburg 

sokolnikova_ps@almazovcentre.ruhttps://orcid.org/0009-0000-6559-4063АббясоваВ. Г.AbbyasovaV. G.

Аббясова Венера Газизьяновна, врач — детский кардиолог консультативно-диагностического центра 

Санкт-Петербург 

Venera G. Abbyasova, pediatric cardiologist at the consultative and diagnostic center 

 Saint Petersburg 

veneraabb0474@gmail.comФедороваО. В.FedorovaO. V.

Федорова Ольга Викторовна, руководитель Группы поддержки грантовых конкурсов Управления научными исследованиями

Санкт-Петербург  

Olga V. Fedorova, head of the Grant Competition Support Group of the Scientific Research Department 

 Saint Petersburg 

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

Костарева Анна Александровна, д.м.н., директор Института молекулярной биологии и генетики, доцент кафедры внутренних болезней Института медицинского образования

Санкт-Петербург  

Anna A. Kostareva, Doctor of Medical Sciences, Director of the Institute of Molecular Biology and Genetics, Associate Professor of the Department of Internal Diseases of the Institute of Medical Education of the Almazov National Medical Research Centre 

 Saint Petersburg 

akostareva@hotmail.comhttps://orcid.org/0000-0001-7336-4102ВасичкинаЕ. С.VasichkinaE. S.

Васичкина Елена Сергеевна, д.м.н., руководитель НИЦ неизвестных, редких и генетически обусловленных заболеваний НЦМУ «Центр персонализированной медицины», ФГБУ «НМИЦ им. В. А. Алмазова» Мин­здрава России; профессор кафедры детских болезней лечебного факультета Института медицинского образования ФГБУ «НМИЦ им. В. А. Алмазова» Минздрава России 

Санкт-Петербург 

Elena S. Vasichkina, PhD, MD, Head of the Scientific Research Centre for Unknown, Rare and Genetically Caused Diseases of the World-Class Research Centre for Personalized Medicine, Professor of the Department of Pediatric Diseases of the Medical Faculty of the Institute of Medical Education of the Almazov National Medical Research Centre 

 Saint Petersburg 

vasichkinalena@mail.ruФедеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр имени В. А. Алмазова» Министерства здравоохранения Российской ФедерацииРоссияAlmazov National Medical Research CentreRussian Federation202507052025121Внеклеточные везикулы: большие перспективы маленьких объектов614Copyright © Фетисова С.Г., Мельник О.В., Фомичева Ю.В., Сокольникова П.С., Аббясова В.Г., Федорова О.В., Костарева А.А., Васичкина Е.С., 20252025Фетисова С.Г., Мельник О.В., Фомичева Ю.В., Сокольникова П.С., Аббясова В.Г., Федорова О.В., Костарева А.А., Васичкина Е.С.Fetisova S.Г., Melnik O.V., Fomicheva Y.V., Sokolnikova P.S., Abbyasova V.G., Fedorova O.V., Kostareva A.A., 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://transmed.almazovcentre.ru/jour/article/view/898

Гипертрофическая кардиомиопатия (ГКМП) является наиболее распространенной формой кардиомиопатии (КМП). Гипертрофия миокарда у детей ассоциирована с большой гетерогенной группой заболеваний с высокой представленностью несаркомерных причин. Цель исследования: сравнение диагностической информативности таргетных панелей для высокопроизводительного секвенирования (NGS) разной ширины охвата при генетической диагностике ГКМП у детей. Материалы и методы. Проведено молекулярное генетическое исследование с использованием двух таргетных панелей (172 и 39 генов) с оценкой их эффективности в дальнейшем. Результаты. Включено 53 ребенка с ГКМП с медианой возраста 10 [3,5; 14,0] лет. С применением большой кардиологической панели, содержащей 172 гена, обследовано 13 детей. Остальные 40 пациентов были обследованы с помощью таргетной панели на ГКМП, содержащей 39 генов, у 10 из них генетическая диагностика с применением данной панели оказалась неинформативной (25,0 %). У 35 (66,0 %) пациентов были выявлены патогенные и вероятно-патогенные варианты в различных генах Информативность генетической диагностики в группе до 1 года составила 60,7 % против 69,2% в группе с дебютом в возрасте старше 1 года. Заключение. Целесообразно использование расширенной кардиопанели для NGS с целью генетической диагностики ГКМП у пациентов с дебютом заболевания на первом году жизни и небольших таргетных панелей на ГКМП — у пациентов с дебютом в более старшем возрасте.

Introduction. Hypertrophic cardiomyopathy (HCM) is the most common form of cardiomyopathy (CMP). Myocardial hypertrophy in children is associated with a large heterogeneous group of diseases with a high representation of non-sarcomeric causes. Purpose. The study compares diagnostic information from targeted next-generation sequencing (NGS) panels with different gene sets for HCM in children. Materials and methods. A molecular genetic study was conducted using two targeted panels (172 and 39 genes), followed by an assessment of their effectiveness. Results. The study included 53 children with HCM, the median age of which was 10 ± 3.5; 14.0 years. 13 children were examined using a large cardiac panel containing 172 genes. The remaining 40 patients were examined using a targeted panel for HCM containing 39 genes, while in 10 cases (25.0 %) genetic diagnostics was uninformative. Pathogenic and likely pathogenic variants in various genes were detected in 35 (66.0 %) patients. The informativeness of genetic diagnostics in the group of children under one year old was 60.7 %, in the group with onset at the age of over one year — 69.2 %. Conclusion. It is advisable to use an extended cardio panel for NGS for the purpose of genetic diagnosis of HCM in patients with the onset of the disease in the first year of life and small target panels for HCM in patients with the onset at an older age.

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