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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="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">rosped</journal-id><journal-title-group><journal-title xml:lang="ru">Российский педиатрический журнал имени М.Я. Студеникина</journal-title><trans-title-group xml:lang="en"><trans-title>M.Ya. Studenikin Russian Pediatric Journal</trans-title></trans-title-group></journal-title-group><publisher><publisher-name>ФГАУ «НМИЦ здоровья детей» Минздрава России</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.46563/1560-9561-2023-26-3-152-158</article-id><article-id custom-type="edn" pub-id-type="custom">wvosnj</article-id><article-id custom-type="elpub" pub-id-type="custom">rosped-3</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="ru"><subject>ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL INVESTIGATIONS</subject></subj-group></article-categories><title-group><article-title>Гипертрофическая кардиомиопатия в структуре инфильтративных заболеваний у детей</article-title><trans-title-group xml:lang="en"><trans-title>Hypertrophic cardiomyopathy in the structure of infiltrative diseases in children</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0890-7849</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гандаева</surname><given-names>Лейла Ахатовна</given-names></name><name name-style="western" xml:lang="en"><surname>Gandaeva</surname><given-names>Leyla A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Канд. мед. наук, ст. науч. сотр., врач детский кардиолог, ФГАУ «НМИЦ здоровья детей» Минздрава России.</p><p>e-mail: dr.gandaeva@gmail.com</p></bio><bio xml:lang="en"><p>MD, Cand. Sci. (Med.), senior researcher, cardiologist of National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation.</p><p>e-mail: dr.gandaeva@gmail.com</p></bio><email xlink:type="simple">dr.gandaeva@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0144-2885</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Басаргина</surname><given-names>Елена Николаевна</given-names></name><name name-style="western" xml:lang="en"><surname>Basargina</surname><given-names>Elena N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Доктор мед. наук, проф., гл. науч. сотр., зав. кардиологическим отд-нием ФГАУ «НМИЦ здоровья детей» Минздрава России, проф. каф. педиатрии и детской ревматологии Клинического института детского здоровья им. Н.Ф. Филатова ФГАОУ ВО «Первый МГМУ им. И.М. Сеченова» Минздрава России (Сеченовский Университет).</p><p>e-mail: basargina@nczd.ru</p></bio><email xlink:type="simple">basargina@nczd.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России</institution></aff><aff xml:lang="en"><institution>National Medical Research Center for Children’s Health of the Russian Federation Ministry of Health</institution></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет)</institution></aff><aff xml:lang="en"><institution>National Medical Research Center for Children’s Health of the Russian Federation Ministry of Health; Sechenov First Moscow State Medical University</institution></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>09</day><month>08</month><year>2023</year></pub-date><volume>26</volume><issue>3</issue><fpage>152</fpage><lpage>158</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Гандаева Л.А., Басаргина Е.Н., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Гандаева Л.А., Басаргина Е.Н.</copyright-holder><copyright-holder xml:lang="en">Gandaeva L.A., Basargina E.N.</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.rosped.ru/jour/article/view/3">https://www.rosped.ru/jour/article/view/3</self-uri><abstract><sec><title>Введение</title><p>Введение. В 2006 г. Американская кардиологическая ассоциация (AHA) выделила две основные группы кардиомиопатий (КМП): первичные и вторичные, относя к первичным КМП заболевания сердца генетической, приобретённой либо смешанной этиологии, а к вторичным (фенокопии) — патологическое вовлечение миокарда как части системной патологии.</p><p>Цель работы — определить часто встречающиеся у детей фенокопии гипертрофической КМН (ГКМП), обусловленные накоплением патологических веществ в миокарде и представить их характеристики.</p></sec><sec><title>Материалы и методы</title><p>Материалы и методы. Обследованы 317 больных, применены инструментальные (эхокардиография, электрокардиография, суточное мониторирование электрокардиографии по Холтеру), лабораторные (определение содержания N-терминального пропептида натрийуретического гормона, лактата, аммиака; активности креатинфосфокиназы, креатинфосфокиназы-МВ, лактатдегидрогеназы, аспартатаминотрансферазы, аланинаминотрансферазы) и молекулярно-генетические методы обследования больных.</p></sec><sec><title>Результаты</title><p>Результаты. У 104 (39%) больных были выявлены нуклеотидные варианты в несаркомерных генах, обусловливающих гипертрофию миокарда: у 46 пациентов диагностированы инфильтративные заболевания с поражением сердца, у 58 — синдромы из группы RAS-патий. У пациентов с болезнями накопления отмечено следующее распределение: у 12 детей — болезнь Помпе, у 2 — синдром PRKAG2, у 11 — болезнь Данон, у 15 — болезнь Кори–Форбса, у 6 — атаксия Фридрейха. Неблагоприятные события зарегистрированы в подгруппе пациентов с болезнью Помпе (9 летальных случаев) и с болезнью Данона (2 летальных случая).</p></sec><sec><title>Заключение</title><p>Заключение. Спектр фенокопий ГКМП в детском возрасте представлен большим разнообразием генетических вариантов, зачастую — заболеваниями из группы нарушений обмена гликогена, нарушений окисления жирных кислот, митохондриальных заболеваний. Выявление генетических причин гипертрофии миокарда желудочков сердца у детей служит ключом к ранней диагностике редких заболеваний, своевременному и адекватному лечению, а также прогнозированию их течения и исходов.</p></sec><sec><title>Участие авторов</title><p>Участие авторов: Гандаева Л.А., Басаргина Е.Н. — концепция и дизайн исследования; Гандаева Л.А. — сбор и обработка материала, написание текста; Басаргина Е.Н. — редактирование. Все соавторы — утверждение окончательного варианта статьи, ответственность за целостность всех частей статьи.</p></sec><sec><title>Финансирование</title><p>Финансирование. Исследование не имело финансовой поддержки.</p></sec><sec><title>Конфликт интересов</title><p>Конфликт интересов. Авторы заявляют об отсутствии конфликта интересов.</p></sec><sec><title>Поступила 24</title><p>Поступила 24.04.2023Принята к печати 16.05.2023Опубликована 27.06.2023</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Introduction</title><p>Introduction. In 2006, the American Heart Association identified two main groups of cardiomyopathies (CM) as primary and secondary, referring to the primary CM heart diseases of genetic, acquired or mixed etiology, and to the secondary — pathological involvement of the myocardium as a part of a systemic pathology.</p></sec><sec><title>Aim</title><p>Aim: to determine the most common phenocopies of hypertrophic CM (HCM) in children, due to the accumulation of pathological substances in the myocardium and present their differences.</p></sec><sec><title>Materials and methods</title><p>Materials and methods. Instrumental diagnostic methods (echocardiography, electrocardiography, 24-hour Holter ECG monitoring), laboratory tests (N-terminal propeptide of natriuretic hormone, creatine phosphokinase, creatine phosphokinase-MB, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase, lactate, ammonia), and molecular genetic tests were used. </p></sec><sec><title>Results</title><p>Results. Nucleotide variants in non-sarcomeric genes causing myocardial hypertrophy were identified in one hundred four (39%) patients: infiltrative diseases with heart damage were diagnosed in 46 cases, syndromes from the RAS-pathy group were diagnosed in 58 cases. Patients with storage diseases included 12 children with Pompe disease, 2 cases with PRKAG2 syndrome, 11 cases had Danon disease, 15 — Corey–Forbes disease, and 6 — Friedreich ataxia. Adverse events were reported in group of patients with Pompe disease (9 deaths), and with Danon’s disease (2 deaths). </p></sec><sec><title>Conclusion</title><p>Conclusion. The phenocopy varieties of HCM in children are represented by a wide variety of genetic variants and often by diseases from the group of glycogen metabolism disorders, fatty acid oxidation disorders, and mitochondrial diseases. Identification of the genetic causes of ventricular myocardial hypertrophy in children is the key to early diagnosis of rare diseases, timely and adequate treatment, as well as predicting the course and outcome of the disease.</p></sec><sec><title>Contribution</title><p>Contribution: Gandaeva L.A., Basargina E.N. — concept and design of the study; Gandaeva L.A. — collection and processing of material, text writing; Basargina E.N. — text editing; Gandaeva L.A., Basargina E.N. — approval of the final version of the article, responsibility for the integrity of all parts of the article.</p></sec><sec><title>Acknowledgment</title><p>Acknowledgment. The study had no sponsorship.</p></sec><sec><title>Conflict of interest</title><p>Conflict of interest. The authors declare no conflict of interest.</p></sec><sec><title>Received</title><p>Received: April 24, 2023Accepted: May 16, 2023Published: June 27, 2023</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>ГКМП</kwd><kwd>инфильтративные заболевания</kwd><kwd>нарушения обмена веществ</kwd><kwd>фенокопии</kwd></kwd-group><kwd-group xml:lang="en"><kwd>HCM</kwd><kwd>storage diseases</kwd><kwd>metabolic disorders</kwd><kwd>phenocopies</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">Lipshultz S.E., Law Y.M., Asante-Korang A., Austin E.D., Dipchand A.I., Everitt M.D., et al. Cardiomyopathy in children: Classification and diagnosis: A scientific statement from the American Heart Association. 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