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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">rpcardio</journal-id><journal-title-group><journal-title xml:lang="en">Rational Pharmacotherapy in Cardiology</journal-title><trans-title-group xml:lang="ru"><trans-title>Рациональная Фармакотерапия в Кардиологии</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1819-6446</issn><issn pub-type="epub">2225-3653</issn><publisher><publisher-name>«SILICEA-POLIGRAF» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.20996/1819-6446-2020-06-01</article-id><article-id custom-type="elpub" pub-id-type="custom">rpcardio-2219</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>NOTES FROM PRACTICE</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КЛИНИЧЕСКИЙ ОПЫТ</subject></subj-group></article-categories><title-group><article-title>New Variant of MYH7 Gene Nucleotide Sequence in Familial Non-Compaction Cardiomyopathy with Benign Course</article-title><trans-title-group xml:lang="ru"><trans-title>Новый вариант нуклеотидной последовательности в гене MYH7 у пациентов с семейной формой некомпактной кардиомиопатии с доброкачественным течением</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мясников</surname><given-names>Р. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Myasnikov</surname><given-names>R. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мясников Роман Петрович - кандидат медицинских наук, старший научный сотрудник, отдел клинической кардиологии и молекулярной генетики, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10.</p></bio><bio xml:lang="en"><p>Roman P Myasnikov - MD, PhD, Senior Researcher, Department of Clinical Cardiology and Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Куликова</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kulikova</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Куликова Ольга Викторовна - младший научный сотрудник, отдел клинической кардиологии и молекулярной генетики, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10.</p></bio><bio xml:lang="en"><p>Olga V. Kulikova - MD, Junior Researcher, Department of Clinical Cardiology and Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><email xlink:type="simple">olgakulikova2014@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мешков</surname><given-names>А. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Meshkov</surname><given-names>A. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мешков Алексей Николаевич - кандидат медицинских наук, руководитель лаборатории молекулярной генетики, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10.</p></bio><bio xml:lang="en"><p>Alexey N. Meshkov - MD, PhD, Head of Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Киселева</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Kiseleva</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Киселева Анна Витальевна - кандидат биологических наук, старший научный сотрудник, лаборатория молекулярной генетики, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10.</p></bio><bio xml:lang="en"><p>Anna V. Kiseleva - PhD (Biology), Senior Researcher, Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шумарина</surname><given-names>А. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Shumarina</surname><given-names>A. O.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Шумарина Анна Олеговна - кандидат биологических наук, программист, лаборатория геномной и медицинской биоинформатики, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10. </p></bio><bio xml:lang="en"><p>Anna O. Shumarina - PhD (Biology), Programmer, Laboratory of Genomic and Medical Bioinformatics, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Корецкий</surname><given-names>С. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Koretskiy</surname><given-names>S. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Корецкий Сергей Николаевич - кандидат медицинских наук, ведущий научный сотрудник, отдел фундаментальных и прикладных аспектов ожирения, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10.</p></bio><bio xml:lang="en"><p>Sergey N. Koretskiy - MD, PhD, Leading Researcher, Department of Fundamental and Applied Aspects of Obesity, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550. </p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Жарикова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Zharikova</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Жарикова Анастасия Александровна - младший научный сотрудник, лаборатория молекулярной генетики, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10.</p></bio><bio xml:lang="en"><p>Anastasia A. Zharikova - Junior Researcher, Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дивашук</surname><given-names>М. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Divashuk</surname><given-names>M. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Дивашук Михаил Георгиевич - кандидат биологических наук старший научный сотрудник, лаборатория молекулярной генетики, НМИЦ ТПМ; руководитель, Курчатовский геномный центр – ВНИИСБ.</p><p>101990, Москва, Петроверигский переулок, 10; 127550, Москва, Тимирязевская ул., 42.</p></bio><bio xml:lang="en"><p>Mikhail G. Divashuk - PhD (Biology), Senior Researcher, Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine; Head of Kurchatov Genomics Center, All-Russia Research Institute of Agricultural Biotechnology.</p><p>Petroverigsky per. 10, Moscow, 101990; Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Харлап</surname><given-names>М. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Kharlap</surname><given-names>M. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Харлап Мария Сергеевна - кандидат медицинских наук, старший научный сотрудник, отдел нарушений сердечного ритма и проводимости сердца, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10. </p></bio><bio xml:lang="en"><p>Maria S. Kharlap - MD, PhD, Senior Researcher, Department of Arrhythmias and Cardiac Conduction, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сердюк</surname><given-names>С. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Serduk</surname><given-names>S. E.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Сердюк Светлана Евгеньевна - кандидат медицинских наук, старший научный сотрудник, отдел нарушений сердечного ритма и проводимости сердца, НМИЦ ТПМ.</p><p>101990, Москва, Петроверигский переулок, 10. </p></bio><bio xml:lang="en"><p>Svetlana E. Serduk - MD, PhD, Senior Researcher, Department of Arrhythmias and Cardiac Conduction, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мершина</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Mershina</surname><given-names>E. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мершина Елена Александровна - кандидат медицинских наук, заведующий отделением рентгенодиагностики, Научно-образовательный центр МГУ им. М.В. Ломоносова.</p><p>119192, Москва, Ломоносовский просп., 27.</p></bio><bio xml:lang="en"><p>Elena A. Mershina - MD, PhD, Head of Radiology Department, Medical Research and Education Center, Lomonosov Moscow State University.</p><p>Lomonosovsky pr. 27 Moscow, 119192.</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Синицын</surname><given-names>В. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Sinitsyn</surname><given-names>V. E.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Синицын Валентин Евгеньевич - доктор медицинских наук, профессор, Научно-образовательный центр МГУ им. М.В. Ломоносова.</p><p>119192, Москва, Ломоносовский просп., 27. </p></bio><bio xml:lang="en"><p>Valentin E. Sinitsyn - MD, PhD, Professor, Medical Research and Education Center, Lomonosov Moscow State University.</p><p>Lomonosovsky pr. 27 Moscow, 119192.</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бойцов</surname><given-names>С. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Boytsov</surname><given-names>S. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Бойцов Сергей Анатольевич - доктор медицинских наук, профессор, академик РАН, генеральный директор, НМИЦ кардиологии.</p><p>121552, Москва, ул. 3-я Черепковская, 15а.</p></bio><bio xml:lang="en"><p>Sergey A. Boytsov - MD, PhD, Professor, Academician of the Russian Academy of Sciences, Director, National Medical Research Center of Cardiology.</p><p>Tretya Cherepkovskaya ul. 15a, Moscow, 121552.</p></bio><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Драпкина</surname><given-names>О. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Drapkina</surname><given-names>O. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Драпкина Оксана Михайловна - доктор медицинских наук, профессор, член-корреспондент РАН, директор, НМИЦ ТПМ</p><p>101990, Москва, Петроверигский переулок, 10.</p></bio><bio xml:lang="en"><p>Oxana M. Drapkina - MD, PhD, Professor, Corresponding Member of the Russian Academy of Sciences, Director, National Medical Research Center for Therapy and Preventive Medicine.</p><p>Timiryazevskaya ul. 42, Moscow, 127550.</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Национальный медицинский исследовательский центр терапии и профилактической медицины</institution><country>Россия</country></aff><aff xml:lang="en"><institution>National Medical Research Center for Therapy and Preventive Medicine</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Национальный медицинский исследовательский центр терапии и профилактической медицины; Курчатовский геномный центр, Всероссийский научно-исследовательский институт сельскохозяйственной биотехнологии</institution><country>Россия</country></aff><aff xml:lang="en"><institution>National Medical Research Center for Therapy and Preventive Medicine; Kurchatov Genomics Center, All-Russia Research Institute of Agricultural Biotechnology</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Московский государственный университет им. М.В. Ломоносова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Lomonosov Moscow State University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Национальный медицинский исследовательский центр кардиологии Россия</institution><country>Россия</country></aff><aff xml:lang="en"><institution>National Medical Research Center of Cardiology</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>03</day><month>07</month><year>2020</year></pub-date><volume>16</volume><issue>3</issue><fpage>383</fpage><lpage>391</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Myasnikov R.P., Kulikova O.V., Meshkov A.N., Kiseleva A.V., Shumarina A.O., Koretskiy S.N., Zharikova A.A., Divashuk M.G., Kharlap M.S., Serduk S.E., Mershina E.A., Sinitsyn V.E., Boytsov S.A., Drapkina O.M., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Мясников Р.П., Куликова О.В., Мешков А.Н., Киселева А.В., Шумарина А.О., Корецкий С.Н., Жарикова А.А., Дивашук М.Г., Харлап М.С., Сердюк С.Е., Мершина Е.А., Синицын В.Е., Бойцов С.А., Драпкина О.М.</copyright-holder><copyright-holder xml:lang="en">Myasnikov R.P., Kulikova O.V., Meshkov A.N., Kiseleva A.V., Shumarina A.O., Koretskiy S.N., Zharikova A.A., Divashuk M.G., Kharlap M.S., Serduk S.E., Mershina E.A., Sinitsyn V.E., Boytsov S.A., Drapkina O.M.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.rpcardio.online/jour/article/view/2219">https://www.rpcardio.online/jour/article/view/2219</self-uri><abstract><p>Left ventricular non-compaction (LVNC) is a genetically determined cardiomyopathy characterized by different variants of the clinical course. LVNC family cases allow to study in more details the role of genetic factors in cardiomyopathy pathogenesis and prognosis, as well as to determine clinical course features.</p><sec><title>Aim</title><p>Aim. To demonstrate a case of LVNC familial form with a stable benign course and to assess the possible relationship of the detected mutation with the disease prognosis.</p></sec><sec><title>Material and methods</title><p>Material and methods. A family with LVNC was included in the study. The patient with LVNC and his 1st and 2nd degree of kinship relatives underwent clinical and instrumental examination and exome sequencing. LVNC was diagnosed in proband and proband's father. LVNC diagnosis was established basing on echo and magnetic resonance imaging (MRI) criteria.</p></sec><sec><title>Results</title><p>Results. This article presents the results of a comprehensive clinical and instrumental examination of a family with LVNC with a new variant in the MYH7 gene, the absence of intramyocardial fibrosis according to MRI of the heart and a favorable disease course, both in proband's father and proband himself. A comparative analysis of the data obtained with the results of recent large-scale studies and meta-analyses devoted to the study of prognostic factors in patients with LVNC, with identified variants in the MYH7 gene.</p></sec><sec><title>Conclusions</title><p>Conclusions. The variant of p.His1338Pro identified in the MYH7 gene may be associated with the development of LVNC with a benign course.</p></sec></abstract><trans-abstract xml:lang="ru"><p>Некомпактная кардиомиопатия левого желудочка (НКЛЖ) - генетически детерминированная кардиомиопатия, для которой характерны различные варианты клинического течения. Семейные случаи НКЛЖ позволяют более детально изучить роль генетических факторов в патогенезе и прогнозе кардиомиопатии, а также определить особенности клинического течения.</p><sec><title>Цель</title><p>Цель. Продемонстрировать случай семейной формы некомпактной кардиомиопатии со стабильным течением заболевания и оценить возможную связь найденной мутации с прогнозом заболевания.</p></sec><sec><title>Материал и методы</title><p>Материал и методы. В исследование была включена семья с НКЛЖ. Пробанду с некомпактной кардиомиопатией и его родственникам 1 и 2 степени родства было проведено клинико-инструментальное обследование и экзомное секвенирование. НКЛЖ был диагностирован у пробанда и у отца пробанда. Диагноз НКЛЖ был установлен на основании эхокардиографических критериев и подтвержден при проведении магнитно-резонансной томографии (МРТ).</p></sec><sec><title>Результаты</title><p>Результаты. В данной статье представлены результаты комплексного клинико-инструментального обследования семьи с НКЛЖ с выявленным новым вариантом в гене MYH7, отсутствием интрамиокардиального фиброза по данным МРТ сердца и благоприятным течением заболевания, как у отца пробанда, так и у самого пробанда. Проведен сравнительный анализ полученных данных с результатами последних крупных исследований и мета-анализов, посвященных изучению прогностических факторов у пациентов с НКЛЖ, с выявленными вариантами в гене MYH7.</p></sec><sec><title>Заключение</title><p>Заключение. Выявленный в гене MYH7 вариант p.His1338Pro может иметь отношение к развитию НКЛЖ с доброкачественным течением.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>MYH7</kwd><kwd>экзомное секвенирование</kwd><kwd>некомпактная кардиомиопатия левого желудочка</kwd></kwd-group><kwd-group xml:lang="en"><kwd>MYH7</kwd><kwd>exomic sequencing</kwd><kwd>left ventricular non-compaction</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Hoedemaekers Y.M., Caliskan K., Michels M., et al. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular non-compaction cardiomyopathy. Circulation Cardiovascular genetics. 2010;3(3):232-9. DOI:10.1161/CIRCGENETICS.109.903898.</mixed-citation><mixed-citation xml:lang="en">Hoedemaekers Y.M., Caliskan K., Michels M., et al. 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