medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2025.12.16-27medgen-3344Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHКлинико-генетические характеристики кардиомиопатии с дилатационным фенотипом у 196 российских детей. Одноцентровое исследование.Clinical and Genetic Characteristics of Cardiomyopathy with Dilated Phenotype in 196 Russian Children: A Single-Center Study.БурыкинаЮ. С.BurykinaYu. S.julia1907925@yandex.ruЖароваО. П.ZharovaO. P.ГандаеваЛ. А.GandaevaL. A.СдвиговаН. А.SdvigovaN. A.БасаргинаЕ. Н.BasarginaE. N.ДемьяновД. С.DemianovD. S.ПушковА. А.PushkovA. A.СавостьяновК. В.SavostyanovK. V.ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России 119991, г. Москва, Ломоносовский пр., д. 2, стр. 1РоссияNational Medical Research Center of Children’s HealthRussian FederationФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; Клинический институт детского здоровья им. Н.Ф. Филатова ФГАОУ ВО Первый Московский государственный медицинский университет им. И.М. Сеченова Минздрава России (Сеченовский университет) 119435, г. Москва, ул. Большая Пироговская., д. 19, стр. 1 119991, г. Москва, Ломоносовский пр., д. 2, стр. 1РоссияNational Medical Research Center of Children’s Health; N.F. Filatov Clinical Institute of Children’s Health, I.M. Sechenov First Moscow State Medical University of the Russian Ministry of Health (Sechenov University)Russian Federation20253101202624121627Copyright © Бурыкина Ю.С., Жарова О.П., Гандаева Л.А., Сдвигова Н.А., Басаргина Е.Н., Демьянов Д.С., Пушков А.А., Савостьянов К.В., 20262026Бурыкина Ю.С., Жарова О.П., Гандаева Л.А., Сдвигова Н.А., Басаргина Е.Н., Демьянов Д.С., Пушков А.А., Савостьянов К.В.Burykina Y.S., Zharova O.P., Gandaeva L.A., Sdvigova N.A., Basargina E.N., Demianov D.S., Pushkov A.A., Savostyanov K.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3344

Введение. Изучение генетических причин дилатационного фенотипа кардиомиопатии (КМП) у детей представляет особый интерес. В России публикации по дилатационному фенотипу КМП у детей ограничиваются единичными случаями; лонгитюдные исследования крупных когорт, интегрирующие клиническую картину и генетические данные, отсутствуют. Цель: описать клинические и молекулярно-генетические особенности российских пациентов детского возраста с дилатационным фенотипом КМП, а также представить взаимосвязь течения заболевания с верифицированной генетической причиной. Методы. Проанализированы истории болезни 250 детей с дилатационным фенотипом ремоделирования миокарда. Генетический анализ всем детям проводился методом высокопроизводительного секвенирования с дальнейшей валидацией результатов методом двунаправленного секвенирования по Сэнгеру. Генетические данные соотносились с клиническими характеристиками пациентов. Результаты. У 196 пациентов была выявлена генетическая причина КМП с дилатационным фенотипом, при этом более 75% случаев были обусловлены вариантами в генах саркомера, причем мутации в генах тонкого филамента определяли наиболее тяжелое течение заболевания. В исследовании определены клинико-генетические характеристики КМП, а также лабораторно-инструментальные предикторы неблагоприятного прогноза заболевания. Заключение. Ранняя молекулярно-генетическая диагностика детей с КМП позволяет не только оптимизировать ведение пациентов, инициировать семейный скрининг, прогнозировать исходы заболевания, но и закладывает основу для будущей разработки таргетной терапии.

Background. The investigation of genetic causes underlying the dilated phenotype of cardiomyopathy (CMP) in children is of particular interest. In Russia, publications on pediatric dilated phenotype CMP are limited to isolated case reports; longitudinal studies of large cohorts integrating clinical presentation with genetic data are lacking. Aim: to describe the clinical and molecular genetic characteristics of Russian pediatric patients with dilated cardiomyopathy and analyze   correlations between disease course and identified genetic variants. Methods. Medical records of 250 children with myocardial remodeling demonstrating a dilated phenotype were analyzed. Genetic testing was performed using high-throughput sequencing for all patients, with subsequent validation of results via bidirectional Sanger sequencing. Genetic findings were correlated with patients’ clinical characteristics. Results. A genetic etiology of dilated phenotype CMP was identified in 196 patients. Over 75% of cases were attributed to sarcomeric gene variants, with mutations in thin filament genes associated with the most severe disease course. The study established clinical and genetic characteristics of CMP and identified laboratory and instrumental predictors of adverse disease outcomes. Conclusion. Early molecular genetic diagnosis in children with CMP not only enables optimized patient management, initiation of family screening, and disease outcome prediction but also lays the foundation for future development of targeted therapies.

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