usfdУльтразвуковая и функциональная диагностикаUltrasound & Functional Diagnostics1607-07712408-9494Vidar Ltd.10.24835/1607-0771-2022-2-67-85usfd-31Research ArticleУльтразвуковая диагностика заболеваний сердца и сосудовCardiovascular UltrasoundНеинвазивная инструментальная диагностика бивентрикулярной некомпактной кардиомиопатии у пациента с бругадоподобными электрокардиографическими признакамиNoninvasive cardiac imaging in diagnosis of noncompaction cardiomyopathy in patient with Brugada-like electrocardiographic patternhttps://orcid.org/0000-0003-2850-8538ТрушкинаО. А.TrushkinaO. A.noemail@neicon.ruhttps://orcid.org/0000-0003-2326-9347СедовВ. П.SedovV. P.vps52@mail.ruhttps://orcid.org/0000-0002-5864-0938КаплуноваВ. Ю.KaplunovaV. Yu.noemail@neicon.ruhttps://orcid.org/0000-0001-8377-2388СтукаловаО. В.StukalovaO. V.noemail@neicon.ruhttps://orcid.org/0000-0002-6244-9546ЗаклязьминскаяЕ. В.ZaklyazminskayaE. V.noemail@neicon.ruФГАОУ ВО “Первый Московский государственный медицинский университет имени И.М. Сеченова” Министерства здравоохранения Российской Федерации (Сеченовский Университет)РоссияI.M. Sechenov First Moscow State Medical University (Sechenov University)Russian FederationФГБУ “Национальный медицинский исследовательский центр кардиологии имени академика Е.И. Чазова” Министерства здравоохранения Российской ФедерацииРоссияNational Medical Centre of Cardiology named after Academician E.I. ChazovRussian FederationФГБНУ “Российский научный центр хирургии имени академика Б.В. Петровского”РоссияPetrovsky National Research Centre of SurgeryRussian Federation202218012024026785Copyright © Трушкина О.А., Седов В.П., Каплунова В.Ю., Стукалова О.В., Заклязьминская Е.В., 20242024Трушкина О.А., Седов В.П., Каплунова В.Ю., Стукалова О.В., Заклязьминская Е.В.Trushkina O.A., Sedov V.P., Kaplunova V.Y., Stukalova O.V., Zaklyazminskaya E.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://usfd.vidar.ru/jour/article/view/31

Некомпактная кардиомиопатия - редкое гетерогенное заболевание, в основе которого лежит нарушение структуры строения миокарда. В статье представлен клинический случай неинвазивной инструментальной диагностики бивентрикулярной некомпактной кардиомиопатии у 23-летнего пациента с бругадоподобными электрокардиографическими признаками. При выполнении трансторакальной эхокардиографии выявлено двуслойное строение миокарда левого желудочка с преобладанием некомпактного слоя над компактным в средних и верхушечных сегментах передней и нижней стенок левого желудочка. Максимальное соотношение некомпактного слоя к компактному (1,7) регистрировалось при измерениях в конце диастолы. В режиме цветового допплеровского картирования визуализировалось контрастирование межтрабекулярных лакун, в конце диастолы визуализировалось более 3 трабекул, некомпактный слой сокращался синхронно с компактным. Имелись признаки умеренно выраженной систолической дисфункции левого желудочка (VTI - 13 см), снижение глобальной продольной деформации левого желудочка ≤14% (модуль), диастолическая дисфункция левого желудочка (E/A - 2,4, DT - 77 мс). По данным МРТ сердца с внутривенным контрастированием определялось значительное повышение трабекулярности миокарда передней, боковой и нижней стенок левого желудочка в среднем и апикальном сегментах в фазу диастолы (10 из 17 сегментов). Соотношение некомпактного и компактного слоев миокарда в фазу диастолы - 2,5-4,0, в фазу систолы - 1,2. Кроме того, отмечалась повышенная трабекулярность правого желудочка в области верхушки. МР-картина была расценена как бивентрикулярная некомпактная кардиомиопатия. На ЭКГ покоя выявлены синусовая аритмия с ЧСС 58-71 уд/мин, неполная блокада правой ножки пучка Гиса, признаки гипертрофии левого желудочка и левого предсердия. Обращала на себя внимание характерная для синдрома Бругада 1-го типа сводчатая конфигурация сегмента ST с элевацией >2 мм в отведениях V1-V3. С целью уточнения причин комплекса фенотипических проявлений (скелетные изменения, низкая толерантность к физическим нагрузкам с детства, некомпактная кардиомиопатия, нарушения ритма сердца) проведено полноэкзомное секвенирование. В результате исследования были выявлены два редких гетерозиготных варианта в генах MYH7 (с.2679G>A, p.Ala893=) и FLNC (c.6629C>A, p.Ser2210Tyr). В статье также представлен краткий обзор литературы по рассматриваемой проблеме.

Non-compact cardiomyopathy is a rare heterogeneous disease, which is based on a violation of the structure of the myocardium. This article presents a clinical case of a 23-year-old patient, diagnosed biventricular non-compact cardiomyopathy, Brugada-like electrocardiographic pattern. Transthoracic echocardiography revealed two-layer structure of the left ventricular (LV) myocardium with a predominance of the non-compact layer over the compact one in the middle and apical segments of the anterior and inferior walls of LV. In the color Doppler imaging, contrasting of intertrabecular lacunae was visualized. More than 3 trabeculae were visualized at the end of diastole. The non-compact layer contracted synchronously with the compact. There were signs of moderate LV systolic dysfunction (LV outflow-tract velocity-time-integral - 13 cm), LV global longitudinal strain ≤14%, LV diastolic dysfunction (E/A - 2.4, DT - 77 мс). According to the contrast-enhanced cardiac magnetic resonance imaging (MRI), a significant increase in the trabecularity of the myocardium of the anterior, lateral, and inferior LV walls in the middle and apical segments in the diastolic phase (10 out of 17 segments) was determined with the ratio of non-compact and compact layers of the myocardium in the diastolic phase - 2.5-4.0, in the systole phase - 1.2. In addition, cardiac MRI showed images with increased trabeculation in the right ventricular apex. The cardiac MRI findings were regarded as biventricular non-compact cardiomyopathy. Resting ECG revealed sinus arrhythmia with a heart rate of 58-71 beats/min, incomplete right bundle branch block, signs of LV and left atrium hypertrophy, and the coved configuration of the ST segment with >2 mm elevation in leads V1-V3. Whole-exome sequencing was performed. Two rare heterozygote variants in the MYH7 (с.2679G>A, p.Ala893=) and FLNC (c.6629C>A, p.Ser2210Tyr) were identified. The article also presents a brief review.

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