actabiomedicaActa Biomedica ScientificaActa Biomedica Scientifica2541-94202587-9596Scientific Centre for Family Health and Human Reproduction Problems10.12737/article_5a3a0ef1814dc1.76335284actabiomedica-527Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCASE REPORTSРедкое сочетание некомпактного миокарда и коронарной дилатации с нейрофиброматозом 1-го типаA rare combination of noncompact myocardium and coronary dilatation with type 1 neurofibromatosisЕфремоваО. С.EfremovaO. S.shaguno@mail.ruБрегельЛ. В.BregelL. V.loudmilabregel@yandex.ruСубботинВ. М.SubbotinV. M.saturday2@yandex.ruБаракинА. О.BarakinA. O.pacemaker@mail.ruИркутская государственная медицинская академия последипломного образования - филиал ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииIrkutsk State Medical Academy of Postgraduate Education - Branch Campus of the Russian Medical Academy of Continuing Professional EducationИркутская государственная медицинская академия последипломного образования - филиал ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования»Irkutsk State Medical Academy of Postgraduate Education - Branch Campus of the Russian Medical Academy of Continuing Professional EducationГБУЗ «Иркутская государственная областная детская клиническая больница»Irkutsk State Regional Children’s Clinical Hospital20172809201725(2)159162Copyright © Ефремова О.С., Брегель Л.В., Субботин В.М., Баракин А.О., 20172017Ефремова О.С., Брегель Л.В., Субботин В.М., Баракин А.О.Efremova O.S., Bregel L.V., Subbotin V.M., Barakin A.O.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.actabiomedica.ru/jour/article/view/527

В статье описано наблюдение ребёнка в возрасте 5 лет с очень редким сочетанием некомпактного миокарда левого желудочка и коронарной дилатации при нейрофиброматозе 1-го типа (НФ 1). О первом из этих осложнений - недифференцированной кардиомиопатии, известной также под названием некомпактный миокард, при НФ 1 в доступной литературе сообщений нет, хотя случаи гипертрофической кардиомиопатии у пациентов с НФ 1 описаны ранее. Дилатация коронарных артерий также относится к нечастым проявлениям сосудистой патологии на фоне нейрофиброматоза, а о сочетании всех трёх патологических состояний (НФ 1, некомпактный миокард и коронарная дилатация) другими авторами до сих пор не сообщалось. При обследовании пациента мы обнаружили характерные признаки НФ 1 (очаги «кофейной» пигментации на коже, множественные невусы, фиброму предплечья, когнитивные расстройства), на электрокардиограмме признаки гипертрофии левого желудочка, отрицательный Т-зубец и смещение ST-сегмента на 1 мм ниже изолинии в отведениях V4-6, при эхокардиографии - выраженную трабекулярность, истончение слоя компактного миокарда и «губчатый» миокард в области верхушки левого желудочка, дилатацию коронарных артерий. При магнитно-резонансной томографии найдены признаки некомпактного миокарда левого желудочка, при селективной коронарографии - замедление коронарного кровотока. Пациент постоянно получает лечение по сердечной недостаточности и дезагреганты, его состояние остаётся стабильным в течение 4 лет наблюдения.

The article describes the observation of a child with a very rare combination of noncompact left ventricular myocardium and coronary dilatation in type 1 neurofibromatosis (NF1). The first of these complications, undifferentiated cardiomyopathy, also known as noncompact myocardium, is not described in combination with nF 1 in available literature, although cases of hypertrophic cardiomyopathy in patients with NF 1 have been previously reported. Dilatation of the coronary arteries also refers to infrequent manifestations of vascular pathology against the background of neurofibromatosis, and the combination of all three signs (NF 1, noncompact myocardium and coronary dilatation) has not yet been reported by other authors. When examining the patient, we found the characteristic signs of NF 1 (foci of "coffee" pigmentation on the skin, multiple nevuses, fibroids of the forearm, cognitive disorders), electrocardiogram features of left ventricular hypertrophy, negative T-tooth and ST-segment displacement 1 mm below the isoline in Leads V4-6, in echocardiography - pronounced trabecularity, thinning of the compact myocardium layer and a "spongy myocardium" in the region of the left ventricle apex, dilatation of the coronary arteries. With magnetic resonance imaging, signs of noncompact myocardium of the left ventricle were found, with selective coronary angiography - slowing of the coronary blood flow. The patient receives the permanent treatment for heart failure and aspirin, his condition remains stable for 4 years of follow-up

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