emcardioНеотложная кардиология и кардиоваскулярные рискиEmergency Cardiology and Cardiovascular Risks journal2616-633XБелорусский государственный медицинский университет10.51922/2616-633X.2022.6.1.1531emcardio-94Research ArticleКлинический случайКлинический случай некомпактной кардиомиопатии с сопутствующим миопатическим синдромом и мутациями в генах LMNA и KCNH2A clinical case of non-compaction cardiomyopathy with concomitant myopathic syndrome and mutations in the LMNA and KCNH2 genesКомиссароваС. М.KomissarovaS.

220036, ул. Розы Люксембург, д. 110Б, Минск

РинейскаяН. М.RineiskaN.

220036, ул. Розы Люксембург, д. 110Б, Минск

ЧаковаН. Н.ChakovaN.

220072, ул. Академическая, д. 27, Минск

ДолматовичТ. В.DolmatovichT.

220072, ул. Академическая, д. 27, Минск

ГУ «Республиканский научно-практический центр «Кардиология»BelarusГНУ «Институт генетики и цитологии НАН Беларуси»Belarus2022270620256115311534Copyright © Комиссарова С.М., Ринейская Н.М., Чакова Н.Н., Долматович Т.В., 20252025Комиссарова С.М., Ринейская Н.М., Чакова Н.Н., Долматович Т.В.Komissarova S., Rineiska N., Chakova N., Dolmatovich T.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://emcardio.bsmu.by/jour/article/view/94

Представлено клиническое наблюдение пациента с некомпактной кардиомиопатией, ранним развитием жизнеугрожающих нарушений ритма и проводимости, миопатическим синдромом и мутациями в генах LMNA и KCNH2. Обсуждены вопросы диагностики на основе визуализирующих технологий, сложной дифференциальной диагностики некомпактной кардиомиопатии и дилатационной кардиомиопатии, а также основные принципы лечения. Приведены основные положения европейских и американских экспертов по концепции выделения ламин-ассоциированных кардиомиопатий для обязательного молекулярно-генетического тестирования и в случае ее идентификации, ранней имплантации кардиовертера-дефибриллятора для профилактики внезапной сердечной смерти.

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