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Abstract
Cardiomyopathy (CMP) is classified into familial and non-familial, which reflects the need to study the genetic basis of the disease. The article describes a clinical case of a familial form of non-compact cardiomyopathy in combination with a dilated form of cardiomyopathy. The article provides data of echocardiographic and MRI studies. The diagnosis was confirmed by genetic research, there was revealed a mutation in the MYH7 gene p.IIe201Thr in a heterozygous state, which is associated with the development of non-compact cardiomyopathy and dilated form of cardiomyopathy.
Highlights
Cardiomyopathy (CMP) is classified into familial and non-familial, which reflects the need to study the genetic basis of the disease
The article describes a clinical case of a familial form of non-compact cardiomyopathy in combination with a dilated form of cardiomyopathy
The diagnosis was confirmed by genetic research, there was revealed a mutation in the MYH7 gene p.IIe201Thr in a heterozygous state, which is associated with the development of non-compact cardiomyopathy and dilated form of cardiomyopathy
Summary
Cardiomyopathy (CMP) is classified into familial and non-familial, which reflects the need to study the genetic basis of the disease. Что в возрасте 3 лет потеряла сознание при взятии крови из пальца, после чего была проведена эхокардиоскопия (Эхо-КС), выявлено открытое овальное окно (ООО), ложные хорды левого желудочка (ЛХЛЖ), конечный диастолический размер (КДР) 34 мм, конечный систолический размер (КСР) 21 мм. В возрасте 8 лет по данным электрокардиографии (ЭКГ) выявлен предсердный ритм, частота сердечных сокращений (ЧСС) 60–85 уд/мин, нормальная электрическая ось сердца (ЭОС); Эхо-КС – КДР 41 мм, КСР 28 мм, фракция выброса (ФВ) 60%, пролапс митрального клапана (ПМК) I степени. Очередная госпитализация в августе 2016 г., на Эхо-КС выявлены снижение сократительной способности миокарда левого желудочка (ФВ 58%), дилатация левого желудочка (КДР 49 мм, КСР 32,8 мм).
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