cardiovascularКардиоваскулярная терапия и профилактикаCardiovascular Therapy and Prevention1728-88002619-0125«SILICEA-POLIGRAF» LLC10.15829/1728-8800-2024-4257FJXOAIcardiovascular-4257Research ArticleМНЕНИЕ ПО ПРОБЛЕМЕOPINION ON A PROBLEMMYBPC3-ассоциированная кардиомиопатия: особенности течения и перспективы специфической терапииMYBPC3-associated cardiomyopathy: features of the course and prospects for specific therapyhttps://orcid.org/0009-0000-3777-143XНефедоваД. А.NefedovaD. A.

Дарья Антоновна Нефедова — лаборант-исследователь лаборатории персонализированной диагностики, профилактики и терапии некоронарогенных заболеваний сердца Института персонализированной терапии и профилактики, отдела клинической кардиологии.

Москва

Moscow

da_nefedova@mail.ruhttps://orcid.org/0000-0002-9024-5364МясниковР. П.MyasnikovR. P.

Роман Петрович Мясников — к.м.н., руководитель лаборатории персонализированной диагностики, профилактики и терапии некоронарогенных заболеваний сердца Института персонализированной терапии и профилактики, в.н.с. отдела клинической кардиологии.

Москва

Moscow

RMyasnikov@gnicpm.ruhttps://orcid.org/0000-0002-3138-054XКуликоваО. В.KulikovaO. V.

Ольга Викторовна Куликова — к.м.н., с.н.с. лаборатории персонализированной диагностики, профилактики и терапии некоронарогенных заболеваний сердца Института персонализированной терапии и профилактики, отдела клинической кардиологии.

Москва

Moscow

olgakulikova2014@mail.ruhttps://orcid.org/0000-0002-4453-8430ДрапкинаО. М.DrapkinaO. M.

Оксана Михайловна Драпкина — д.м.н., профессор, директор, академик РАН.

Москва

Moscow

ODrapkina@gnicpm.ruФГБУ "Национальный медицинский исследовательский центр терапии и профилактической медицины" Минздрава РоссииNational Medical Research Center for Therapy and Preventive MedicineФГБУ «Национальный медицинский исследовательский центр терапии и профилактической медицины» Минздрава РоссииNational Medical Research Center for Therapy and Preventive Medicine202413022025231242574257Copyright © Нефедова Д.А., Мясников Р.П., Куликова О.В., Драпкина О.М., 20252025Нефедова Д.А., Мясников Р.П., Куликова О.В., Драпкина О.М.Nefedova D.A., Myasnikov R.P., Kulikova O.V., Drapkina O.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://cardiovascular.elpub.ru/jour/article/view/4257

Генетически детерминированные кардиомиопатии (КМП) — это группа заболеваний, характеризующихся патологией миокарда, не обусловленной артериальной гипертензией, ишемической болезнью сердца, врожденными и приобретенными пороками. Благодаря развитию методов визуализации и молекулярно-генетической диагностики, к настоящему времени стало очевидно, что традиционная фенотипическая классификация не отвечает в полной мере современным потребностям из-за наличия клиникоморфологического и генотипического "перекреста" КМП. В то же время, в последние годы были получены данные о том, что генетический субстрат обладает существенно большей прогностической ценностью по сравнению с фенотипом и играет значимую роль в стратификации риска и выборе тактики ведения пациентов, а также проведении семейного скрининга. В совокупности это привело к смещению фокуса внимания с фенотипических особенностей в сторону генотипа как основы для современных классификаций КМП. Одним из примеров такого генотип-специфического подхода является выделение КМП, ассоциированной с вариантами гена MYBPC3, как самостоятельной нозологической единицы. Целью статьи является описание роли гена MYBPC3 и кодируемого им сердечного миозин-связывающего белка С в функционировании кардиомиоцитов, представление актуальных литературных данных о механизмах патогенеза, особенностях клинического течения и развивающихся стратегиях терапии MYBPC3-КМП, а также освещение текущих проблем и направлений будущих исследований в данной сфере.

Genetic cardiomyopathies (CMP) are a group of diseases characterized by myocardial pathology not caused by hypertension, coronary artery disease, congenital and acquired defects. Development of imaging methods and molecular genetic diagnostics showed that the traditional phenotypic classification does not fully meet modern needs due to the presence of clinical, morphological and genotypic "crossing" of CMP. At the same time, in recent years, data have been obtained showing that the genetic substrate has a significantly higher prognostic value compared to the phenotype and plays a significant role in risk stratification and the choice of patient management tactics, as well as in family screening. Taken together, this has led to a shift in focus from phenotypic features to genotype as the basis for modern classifications of cardiomyopathy. One example of such a genotype-specific approach is the identification of cardiomyopathy associated with MYBPC3 gene variants as an independent entity. The aim of the article was to describe the role of MYBPC3 gene and the cardiac myosin-binding protein C encoded by it in cardiomyocyte function, to present current literature data on pathogenesis, clinical features and developing strategies for MYBPC3cardiomyopathy treatment, as well as to highlight current problems and directions for future research in this area.

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