evrazkarЕвразийский Кардиологический ЖурналEurasian heart journal2225-16852305-0748Евразийская ассоциация кардиологов10.38109/2225-1685-2020-3-106-111evrazkar-6224Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEКЛИНИЧЕСКИЙ СЛУЧАЙ НЕКОМПАКТНОЙ КАРДИОМИОПАТИИ У ПАЦИЕНТА С МУТАЦИЕЙ В ГЕНЕ PKP2CLINICAL CASE OF NON-COMPACTION CARDIOMYOPATHY IN A PATIENT WITH PKP2 GENE MUTATIONhttps://orcid.org/0000-0001-9917-5932КомиссароваС. М.KomissarovaS.

Комиссарова Светлана Михайловна, доктор мед. наук, доцент, ведущий научный сотрудник лаборатории хронической сердечной недостаточности

Svetlana M. Komissarova, Dr. med. Sci., Associate Professor, Leading Researcher, Laboratory of Chronic Heart Failure

kom_svet@mail.ruhttps://orcid.org/0000-0002-1986-1367РинейскаяН. М.RineiskayaN.

Ринейская Надежда Михайловна, младший научный сотрудник лаборатории хронической сердечной недостаточности

Nadezhda M. Rineyskaya, junior researcher, laboratory of chronic heart failure

nadya.rin@gmail.comhttps://orcid.org/0000-0003-4721-9109ЧаковаН. Н.ChakovaN.

Чакова Наталья Николаевна, ведущий научный сотрудник лаборатории генетики животных

Natalya N. Chakova, Leading Researcher, Laboratory of Animal Genetics

n.chakova@igc.byhttps://orcid.org/0000-0002-3566-7644НиязоваС. С.NiyazovaS.

Ниязова Светлана Николаевна, младший научный сотрудник лаборатории генетики животных

Svetlana N. Niyazova, Junior Researcher, Laboratory of Animal Genetics

kruglenko_sveta@tut.byhttps://orcid.org/0000-0001-7562-131XДолматовичТ. В.DolmatovichT.

Долматович Татьяна Владимировна, ведущий научный сотрудник лаборатории генетики животных

Tatyana V. Dolmatovich, Leading Researcher, Laboratory of Animal Genetics

t.dolmatovich@igc.byГУ Республиканский научно-практический центр «Кардиология»БеларусьState Institution Republican Scientific and Practical Centre «Cardiology»BelarusГНУ «Институт генетики и цитологии НАН Беларуси»БеларусьInstitute of Genetics and Cytology of Belarus National Academy of ScienceBelarus20203009202003106111Copyright © Комиссарова С.М., Ринейская Н.М., Чакова Н.Н., Ниязова С.С., Долматович Т.В., 20202020Комиссарова С.М., Ринейская Н.М., Чакова Н.Н., Ниязова С.С., Долматович Т.В.Komissarova S., Rineiskaya N., Chakova N., Niyazova S., 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://www.heartj.asia/jour/article/view/6224

Особенности клинического течения некомпактной кардиомиопатии, прогноз и даже ее диагностика до сих пор является предметом дискуссий. Многообразие фенотипов этого заболевания и генетическая гетерогенность диктует необходимость детального клинического и молекулярно-генетического обследования пациентов с этой патологией.

Представлено клиническое наблюдение пациента с дилатационным фенотипом некомпактного миокарда левого желудочка, прогрессированием хронической сердечной недостаточности, а также наличием желудочковых нарушений ритма и проводимости, потребовавших имплантации ресинхронизирующего устройства с функцией дефибриллятора (СРТ-D). У пациента выявлена миссенс-мутация c.1892A>G (p.Tyr631Cys, rs1060501183) в гене PKP2 в гетерозиготном состоянии. Обсуждены вопросы диагностики, дифференциальной диагностики с аритмогенной дисплазией правого желудочка и стратегии лечения заболевания.

The features of the clinical course of non-compaction cardiomyopathy, its prognosis and even its diagnosis are still the subject of discussion. The variety of phenotypes of this disease and genetic heterogeneity dictates the need for detailed clinical and molecular genetic examination of patients with this pathology. The article presents a clinical observation of a patient with a dilated phenotype of left ventricular non-compaction, progression of chronic heart failure, as well as the presence of ventricular rhythm and conduction disorders that required the implantation of cardiac resynchronization therapydefibrillator (CRT-D). The patient was found to have a missense mutation c. 1892A>G (p.Tyr631Cys, rs1060501183) in PKP2 gene in a heterozygous state. The issues of differential diagnostics with arrhythmogenic right ventricular cardiomyopathy and treatment strategies for the disease were discussed.

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