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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">transmed</journal-id><journal-title-group><journal-title xml:lang="ru">Трансляционная медицина</journal-title><trans-title-group xml:lang="en"><trans-title>Translational Medicine</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2311-4495</issn><issn pub-type="epub">2410-5155</issn><publisher><publisher-name>Almazov National Medical Research Centre, Saint Petersburg, Russia</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18705/2311-4495-2022-9-5-33-43</article-id><article-id custom-type="elpub" pub-id-type="custom">transmed-722</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>СЕРДЕЧНО-СОСУДИСТЫЕ ЗАБОЛЕВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CARDIOVASCULAR MEDICINE</subject></subj-group></article-categories><title-group><article-title>Оценка глобальной, сегментарной продольной деформации левого желудочка и функции эндотелия у детей с семейной гиперхолестеринемией</article-title><trans-title-group xml:lang="en"><trans-title>Assessment of global, segmental longitudinal deformation of the left ventricle and endothelial function in children with family hypercholesterolemia</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6662-3548</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Галимова</surname><given-names>Л. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Galimova</surname><given-names>L. F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>к.м.н., заведующая отделением ультразвуковой диагностики Детской республиканской клинической больницы, ассистент кафедры госпитальной педиатрии</p><p>ул. Оренбургский тракт, 140, Казань, Республика Татарстан, 420138</p><p>тел. +79272499471</p></bio><bio xml:lang="en"><p>Liliya F. Galimova, PhD, doctor of ultrasound diagnostics, Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, assistant of the Department of Hospital Pediatrics, Kazan State Medical University</p><p>Str. Orenburgskiy trakt, 140, Kazan, 420138</p></bio><email xlink:type="simple">lilu1@inbox.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6662-3548</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Садыкова</surname><given-names>Д. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Sadykova</surname><given-names>D. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Садыкова Динара Ильгизаровна, д.м.н., заведующий кафедрой госпитальной педиатрии</p><p>Казань</p></bio><bio xml:lang="en"><p>Dinara I. Sadykova, MD, head of Department of Hospital Pediatrics</p><p>Kazan</p></bio><email xlink:type="simple">sadykovadi@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5722-8490</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Макарова</surname><given-names>Т. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Makarova</surname><given-names>T. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Макарова Тамара Петровна, д.м.н., профессор кафедры госпитальной педиатрии</p><p>Казань</p></bio><bio xml:lang="en"><p>Tamara P. Makarova, MD, Professor of the Department of Hospital Pediatrics</p><p>Kazan</p></bio><email xlink:type="simple">Makarova-kgmu@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2957-680X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Камалова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kamalova</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Камалова Аэлита Асхатовна, д.м.н., профессор кафедры госпитальной педиатрии</p><p>Казань</p></bio><bio xml:lang="en"><p>Aelita A. Kamalova, MD, professor of the Department of Hospital Pediatrics</p><p>Kazan</p></bio><email xlink:type="simple">aelitakamalova@gmail.com</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6633-6381</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мельникова</surname><given-names>Ю. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Melnikova</surname><given-names>Yu. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мельникова Юлия Сергеевна, к.м.н., ассистент кафедры госпитальной педиатрии</p><p>Казань</p></bio><bio xml:lang="en"><p>Yulia S. Melnikova, PhD, assistant of the Department of Hospital Pediatrics</p><p>Kazan</p></bio><email xlink:type="simple">mus87@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1732-7443</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сластникова</surname><given-names>Е. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Slastnikova</surname><given-names>E. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Сластникова Евгения Сергеевна, к.м.н., врач ГАУЗ «Детская республиканская клиническая больница Минздрава Республики Татарстан», ассистент кафедры госпитальной педиатрии Казанского государственного медицинского университета</p><p>Казань</p></bio><bio xml:lang="en"><p>Evgenia S. Slastnikova, PhD, assistant of the Department of Hospital Pediatrics</p><p>Kazan</p></bio><email xlink:type="simple">e.slastnikova@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6107-2233</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Рахмаева</surname><given-names>Р. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Rakhmaeva</surname><given-names>R. F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Рахмаева Разиля Фоатовна, к.м.н., ассистент кафедры госпитальной педиатрии</p><p>Казань</p></bio><bio xml:lang="en"><p>Razilya F. Rakhmaeva, PhD, assistant of the Department of Hospital Pediatrics</p><p>Kazan</p></bio><email xlink:type="simple">r.rakhmaeva@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5609-135X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Петрова</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Petrova</surname><given-names>M. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Петрова Мария Алексеевна, врач ГАУЗ «Детская республиканская клиническая больница Минздрава Республики Татарстан», аспирант кафедры госпитальной педиатрии</p><p>Казань</p></bio><bio xml:lang="en"><p>Maria A. Petrova, doctor, Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, postgraduate student, Department of Hospital Pediatrics, Kazan State Medical University</p><p>Kazan</p></bio><email xlink:type="simple">M_Allik95@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-4289-0841</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мустафаева</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Mustafayeva</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мустафаева Альмира Анасовна, к.м.н., заместитель главного врача</p><p>Казань</p></bio><bio xml:lang="en"><p>Almira A. Mustafayeva, MD, deputy chief physician</p><p>Kazan</p></bio><email xlink:type="simple">Almira.Mustafaeva@tatar.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6668-0411</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Семенова</surname><given-names>Г. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Semenova</surname><given-names>G. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Семенова Гульнур Гарифулловна, заведующий поликлиникой «Азино»</p><p>Казань</p></bio><bio xml:lang="en"><p>Gulnur G. Semenova, head of the Azino Polyclinic</p><p>Kazan</p></bio><email xlink:type="simple">Gulnur.Semenova@tatar.ru</email><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Государственное автономное учреждение здравоохранения «Детская республиканская клиническая больница Министерства здравоохранения Республики Татарстан»; Федеральное государственное бюджетное образовательное учреждение высшего образования «Казанский государственный медицинский университет» Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan; Kazan State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное образовательное учреждение высшего образования «Казанский государственный медицинский университет» Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Kazan State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Государственное автономное учреждение здравоохранения «Детская республиканская клиническая больница Министерства здравоохранения Республики Татарстан»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>28</day><month>12</month><year>2022</year></pub-date><volume>9</volume><issue>5</issue><fpage>33</fpage><lpage>43</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Галимова Л.Ф., Садыкова Д.И., Макарова Т.П., Камалова А.А., Мельникова Ю.С., Сластникова Е.С., Рахмаева Р.Ф., Петрова М.А., Мустафаева А.А., Семенова Г.Г., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Галимова Л.Ф., Садыкова Д.И., Макарова Т.П., Камалова А.А., Мельникова Ю.С., Сластникова Е.С., Рахмаева Р.Ф., Петрова М.А., Мустафаева А.А., Семенова Г.Г.</copyright-holder><copyright-holder xml:lang="en">Galimova L.F., Sadykova D.I., Makarova T.P., Kamalova A.A., Melnikova Y.S., Slastnikova E.S., Rakhmaeva R.F., Petrova M.A., Mustafayeva A.A., Semenova G.G.</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://transmed.almazovcentre.ru/jour/article/view/722">https://transmed.almazovcentre.ru/jour/article/view/722</self-uri><abstract><sec><title>Актуальность</title><p>Актуальность. Семейная гиперхолестеринемия (СГХС) сопровождается значительным повышением уровня холестерина липопротеидов низкой плотности в крови. Актуальность своевременной диагностики и лечения обусловлена риском преждевременного развития атеросклероза. Среди пациентов с СГХС до 30 лет встречается ишемическая болезнь сердца вследствие атеросклероза коронарных артерий. В настоящее время недостаточно сведений о сердечной морфологии и функции миокарда при СГХС в детском возрасте.  </p></sec><sec><title>Цель</title><p>Цель. Оценить глобальную, сегментарную продольную деформацию левого желудочка и функцию эндотелия у детей с семейной гиперхолестеринемией.  </p></sec><sec><title>Материалы и методы</title><p>Материалы и методы. В исследовании участвовали 59 детей, из них 25 здоровых ребят (контрольная группа) и 34 человека с диагнозом «гетерозиготная семейная гиперхолестеринемия». Эндотелин-1 и оксид азота определяли методом иммуноферментного анализа. Эхокардиографическое исследование проводилось по стандартной методике. Оценка глобальной и сегментарной продольной деформации левого желудочка проводилась в 4-х камерной апикальной, 3-х камерной и 2-х камерной проекциях с использованием автоматизированного инструмента измерения TOMTEC Autostrain LV.  </p></sec><sec><title>Результаты</title><p>Результаты. Статистически значимых различий глобальной продольной деформации (ГПД) между детьми контрольной группы и с СГХС не выявлено. Индивидуальный анализ показал, что у 2 пациентов с СГХС отмечалось снижение ГПД. Анализ сегментарной продольной деформации выявил статистически значимое снижение показателей у пациентов с СГХС на уровне базального и апикального передне-перегородочных, базального нижнего сегментов. Оценка эндотелина-1 и оксида азота в сыворотке крови выявила статистически значимое повышение показателей при СГХС относительно контрольной группы.  </p></sec><sec><title>Заключение</title><p>Заключение. Применение спекл-трекинг эхокардиографии позволило выявить среди детей с СГХС пациентов со снижением глобальной и сегментарной продольной деформации левого желудочка. </p></sec></abstract><trans-abstract xml:lang="en"><p>Background. Familial hypercholesterolemia (FHC) is accompanied by a significant increase in the level of low-density lipoprotein cholesterol in the blood. The relevance of early diagnosis and treatment is due to the risk of premature development of atherosclerosis. Coronary heart disease due to atherosclerosis of the coronary arteries occurs among FHC patients up to 30 years. Currently, cardiac morphology and myocardial function in children with FHC are poorly understood. Objective. To assess global, segmental longitudinal deformation of the left ventricle and endothelial function in children with familial hypercholesterolemia. Design and methods. The study involved 25 healthy children and 34 children with FHC. Endothelin-1 and NO were determined by enzyme immunoassay. Echocardiographic study was carried. Assessment of global and segmental longitudinal deformation of the left ventricle was carried out in 4-chamber apical, 3-chamber and 2-chamber projections. Results. There were no statistically significant differences in global longitudinal strain (GLD) between groups. Individual analysis showed that 2 patients with FHC had a decrease in GLD. There was a statistically significant decrease in parameters in FHC patients at the level of the basal and apical anterior-septal, basal lower segments. Endothelin-1 and NO were increased in FHC compared to the control group. Conclusion. Speckle-tracking echocardiography allowed identifying patients with a decrease in global and segmental longitudinal deformation of the left ventricle among children with FHC. </p></trans-abstract><kwd-group xml:lang="ru"><kwd>глобальная продольная и сегментарная деформация левого желудочка</kwd><kwd>семейная&#13;
гиперхолестеринемия</kwd><kwd>эндотелиальная дисфункция</kwd></kwd-group><kwd-group xml:lang="en"><kwd>endothelial dysfunction</kwd><kwd>familial hypercholesterolemia</kwd><kwd>global longitudinal and segmental deformation of the left ventricle</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Настоящее исследование проводилось с использованием средств гранта, предоставляемого ФГБОУ ВО Казанский ГМУ Минздрава России (договор №1/22-6 от 15.07.2022).</funding-statement><funding-statement xml:lang="en">This study was conducted using the grant funds provided by the Kazan State Medical University of the Ministry of Health of the Russian Federation (Contract No. 1/22-6 dated 07/15/2022).</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Clinical guidelines. Familial hypercholesterolemia. In Russian [Клинические рекомендации. 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