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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">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2025.01.13-22</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-2600</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>НАУЧНЫЙ ОБЗОР</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEW</subject></subj-group></article-categories><title-group><article-title>Синдром Бругада: от генетической диагностики к персонализированной терапии</article-title><trans-title-group xml:lang="en"><trans-title>Brugada syndrome: from genetic diagnostics to personalized therapy</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>Ярмухаметова</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Iarmukhametova</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Ярмухаметова Аделия Вилевна</p><p>450008, г. Уфа, ул. Ленина, д. 3</p></bio><bio xml:lang="en"><p>Adeliia V. Iarmukhametova</p><p>3, Lenina st., Ufa, 450008</p></bio><email xlink:type="simple">yarmukhametova.adeliya@gmail.com</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>Сергеев</surname><given-names>А. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Sergeev</surname><given-names>A. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197349, г. Санкт-Петербург,ул. Аккуратова, д. 2</p></bio><bio xml:lang="en"><p>2, Akkuratova st., St. Petersburg, 197341</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>Филатов</surname><given-names>А. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Filatov</surname><given-names>A. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197349, г. Санкт-Петербург,ул. Аккуратова, д. 2</p></bio><bio xml:lang="en"><p>2, Akkuratova st., St. Petersburg, 197341</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>Шматкова</surname><given-names>Е. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Shmatkova</surname><given-names>E. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>197349, г. Санкт-Петербург,ул. Аккуратова, д. 2</p></bio><bio xml:lang="en"><p>2, Akkuratova st., St. Petersburg, 197341</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>Копытова</surname><given-names>К. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Kopytova</surname><given-names>K. Iu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450008, г. Уфа, ул. Ленина, д. 3</p></bio><bio xml:lang="en"><p>3, Lenina st., Ufa, 450008</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>Ахиярова</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Akhiyarova</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450008, г. Уфа, ул. Ленина, д. 3</p></bio><bio xml:lang="en"><p>3, Lenina st., Ufa, 450008</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>Давлетшин</surname><given-names>А. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Davletshin</surname><given-names>A. F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450008, г. Уфа, ул. Ленина, д. 3</p></bio><bio xml:lang="en"><p>3, Lenina st., Ufa, 450008</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>Салахова</surname><given-names>К. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Salakhova</surname><given-names>K. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>450008, г. Уфа, ул. Ленина, д. 3</p></bio><bio xml:lang="en"><p>3, Lenina st., Ufa, 450008</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО Башкирский государственный медицинский университет Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashkir State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБУ Национальный медицинский исследовательский центр имени В.А. Алмазова Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Almazov National Medical Research Center</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>11</day><month>03</month><year>2025</year></pub-date><volume>24</volume><issue>1</issue><fpage>13</fpage><lpage>22</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Ярмухаметова А.В., Сергеев А.С., Филатов А.П., Шматкова Е.Р., Копытова К.Ю., Ахиярова А.А., Давлетшин А.Ф., Салахова К.А., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Ярмухаметова А.В., Сергеев А.С., Филатов А.П., Шматкова Е.Р., Копытова К.Ю., Ахиярова А.А., Давлетшин А.Ф., Салахова К.А.</copyright-holder><copyright-holder xml:lang="en">Iarmukhametova A.V., Sergeev A.S., Filatov A.P., Shmatkova E.R., Kopytova K.I., Akhiyarova A.A., Davletshin A.F., Salakhova K.A.</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.medgen-journal.ru/jour/article/view/2600">https://www.medgen-journal.ru/jour/article/view/2600</self-uri><abstract><p>Синдром Бругада (BrS) – наследственное заболевание сердца, которое характеризуется специфическими изменениями на электрокардиограмме (ЭКГ) и высоким риском желудочковых аритмий и внезапной сердечной смерти. BrS чаще встречается у мужчин молодого возраста, и его клинические проявления варьируют от бессимптомных случаев до внезапной сердечной смерти. Эпидемиологические данные показывают значительные различия в распространенности BrS в зависимости от региона и этнической принадлежности с наибольшей частотой в Юго-Восточной Азии. Изучение генетических факторов BrS имеет критическое значение для понимания патогенеза, разработки методов диагностики и прогнозирования, а также целевых терапевтических подходов. Основные гены, связанные с BrS, – SCN5A, CACNA1C, CACNB2, SCN1B и SCN3B. Эти гены кодируют ионные каналы, их патогенные варианты могут вызывать значительные электрофизиологические нарушения, приводящие к аритмиям и внезапной сердечной смерти. Современные методы генетического тестирования, такие как секвенирование нового поколения (NGS), играют ключевую роль в выявлении патогенных генетических вариантов, связанных с BrS. Эти технологии позволяют улучшить диагностику и прогнозирование риска, а также разрабатывать индивидуализированные планы лечения на основе генетического профиля, улучшая прогноз и качество жизни пациентов.</p></abstract><trans-abstract xml:lang="en"><p>Brugada syndrome (BrS) is an inherited cardiac disorder characterized by specific electrocardiogram (ECG) abnormalities and a high risk of ventricular arrhythmias and sudden cardiac death. BrS is more common in young men and its clinical manifestations range from asymptomatic cases to sudden cardiac death. Epidemiological data show significant regional and ethnic variation in the prevalence of BrS, with the highest incidence in Southeast Asia. Investigation of the genetic factors of BrS is critical to understanding the pathogenesis, developing diagnostic and prognostic methods, and targeted therapeutic approaches. The major genes associated with BrS include SCN5A, CACNA1C, CACNB2, SCN1B and SCN3B. These genes encode ion channels, and their pathogenic variants can lead to significant electrophysiological disturbances, resulting in arrhythmias and sudden cardiac death. Modern genetic testing methods, such as next-generation sequencing (ngs), play a key role in identifying genetic mutations associated with brs. These technologies allow for improved diagnostics and risk prediction, as well as the development of individualized treatment plans based on the patient’s genetic profile, improving the prognosis and quality of life of patients with this disease.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>синдром Бругада</kwd><kwd>патогенные генетические варианты</kwd><kwd>желудочковые аритмии</kwd><kwd>внезапная сердечная смерть</kwd><kwd>секвенирование нового поколения</kwd></kwd-group><kwd-group xml:lang="en"><kwd>Brugada Syndrome</kwd><kwd>pathogenic genetic variants</kwd><kwd>ventricular arrhythmias</kwd><kwd>sudden cardiac death</kwd><kwd>Next-Generation Sequencing</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">Sieira J., Dendramis G., Brugada P. Pathogenesis and management of Brugada syndrome. 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