Abstract
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 (NF 1). The first of these complications, undifferentiated cardio-
 myopathy, 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 neurofibro-
 matosis, 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
Highlights
РЕДКОЕ СОЧЕТАНИЕ НЕКОМПАКТНОГО МИОКАРДА И КОРОНАРНОЙ ДИЛАТАЦИИ С НЕЙРОФИБРОМАТОЗОМ 1-ГО ТИПА
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 (NF 1)
Dilatation of the coronary arteries 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
Summary
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). 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. Ключевые слова: некомпактный миокард левого желудочка, кардиомиопатия, нейрофиброматоз 1-го типа, коронарная дилатация. 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 (NF 1). НМЛЖ может также быть результатом спонтанных мутаций в 15 генах [12, 15], что составляет 60–70 % от общего числа случаев этого заболевания [7]. В связи с этим большой интерес представляет клиническое наблюдение ребёнка с некомпактным миокардом и коронарной дилатацией на фоне НФ 1
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