bmjourБайкальский медицинский журналBaikal Medical Journal2949-0715Irkutsk State Medical University10.57256/2949-0715-2024-3-11-24bmjour-242Research ArticleНаучные обзоры литературыScientific literature reviewsГИПЕРТРОФИЧЕСКАЯ КАРДИОМИОПАТИЯ: СОВРЕМЕННЫЕ ПОДХОДЫ К ДИАГНОСТИКЕ И ЛЕЧЕНИЮHYPERTROPHIC CARDIOMYOPATHY: MODERN APPROACHES TO DIAGNOSIS AND TREATMENThttps://orcid.org/0000-0002-9069-3570ЕнисееваЕлена СергеевнаEniseevaElena S.

к.м.н., доцент, Иркутская государственная медицинская академия последипломного образования - филиал ФГБОУ ДПО РМАНПО Минздрава России, Россия, 664049, г. Иркутск, мкр-н. Юбилейный, 100, ФГБОУ ВО ИГМУ Минздрава России, Россия, 664003, г. Иркутск, ул. Красного Восстания, 1

eniseeva-irk@yandex.ruИркутская государственная медицинская академия последипломного образования - филиал ФГБОУ ДПО РМАНПО Минздрава РоссииРоссияIrkutsk State Medical Academy of Postgraduate Education - branch of the Federal State Budgetary Educational Institution of Higher Professional Education, Russian Medical Academy of Postgraduate EducationRussian Federation202410092024331124Copyright © Енисеева Е.С., 20242024Енисеева Е.С.Eniseeva E.S.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.bmjour.ru/jour/article/view/242

В обзоре представлены данные литературы последних лет о распространенности, этиологии, роли мутаций генов саркомера в патогенезе гипертрофической кардиомиопатии, патогенетических механизмах развития гипертрофии миокарда. В обзоре обсуждаются варианты фенотипа, возможная связь между генотипом и фенотипом. Приведены данные о патофизиологии обструкции выносящего отдела левого желудочка, диастолической дисфункции, ишемии миокарда, нарушений ритма. Определена роль методов исследования для диагностики, возможности и ограничения эхокардиографии, значение и преимущества магнитно-резонансной томографии сердца, ее роль в дифференциальной диагностике гипертрофической кардиомиопатии и гипертрофии левого желудочка при артериальной гипертензии, у спортсменов, больных с фенокопиями гипертрофической кардиомиопатии (болезнь Андерсона-Фабри, амилоидоз сердца). Описаны критерии неблагоприятного прогноза, высокого риска внезапной смерти. Обсуждаются варианты медикаментозного лечения, современная терапия ингибитором сердечной миозин-АТФ-азы мавакамтеном, который действует путем уменьшения образования актин–миозиновых мостиков, снижает сократимость и градиент давления в выходном отделе левого желудочка. При неэффективности медикаментозной терапии при обструктивной кардиомиопатии проводятся инвазивные вмешательства (септальная миэктомия и алкогольная аблация перегородки). Оценка факторов риска внезапной смерти необходима для определения показаний к имплантации кардиовертера-дефибриллятора.

The review presents current literature data on the prevalence, etiology, and role of sarcomere gene mutations in the pathogenesis of hypertrophic cardiomyopathy, and pathogenetic mechanisms of myocardial hypertrophy. The review discusses the variants of the phenotype, the possible relationship between causative genes and the phenotype. The data on the pathophysiology of left ventricular outflow obstruction, diastolic dysfunction, myocardial ischemia, and rhythm disturbances are presented. The role of non-invasive imaging modalities, the limitations of echocardiography, the advantages of magnetic resonance imaging of the heart, its role in the differential diagnosis of hypertrophic cardiomyopathy and left ventricular hypertrophy in hypertension, in athletes, patients with phenocopies of hypertrophic cardiomyopathy (Anderson-Fabry disease, amyloidosis of the heart) is determined. The criteria for a worse prognosis and a high risk of sudden death are described. Options for drug treatment are discussed, as well as modern therapy with the cardiac myosin-ATP-ase inhibitor mavakamten, which acts by reducing the formation of actin-myosin bridges, reduces contractility and pressure gradient in the left ventricular outflow tract. Invasive interventions (septal myectomy or alcoholic septal ablation) are indicated in patients with ineffective drug therapy. Estimation of risk factors for sudden death is necessary to determine the indications for implantation of a cardioverter defibrillator.

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