DOI
https://doi.org/10.47689/2181-1415-vol5-iss3-pp205-212Keywords
molecular genetic testing , ventricular tachycardia , TTN gene , cardiac MRI , clinical caseAbstract
Dilated cardiomyopathy (DCMP) is characterized by left ventricular (LV) dilation or biventricular dilatation with myocardial systolic dysfunction in the absence of hemodynamic overload factors (such as hypertension, valve defects, congenital heart disease) or coronary pathology (such as coronary artery disease) sufficient to cause global systolic dysfunction [1]. The prevalence of DCMP is 36.5 cases per 100,000 people, but among all types of cardiomyopathies, DCMP accounts for 50-60% [2]. DCMP has many known and probably many unexplored causes. Conventionally, they can be divided into genetic and non-genetic. Genetic disorders account for one third of patients with different types of inheritance (autosomal dominant, X-linked, autosomal recessive or mitochondrial.). ); neuromuscular diseases (Duchenne/Becker muscular dystrophies); metabolic diseases, endocrine system diseases and during pregnancy (peripartum period) [3]. Differential diagnosis of PPCM from primary DCM masked by pregnancy is very difficult without molecular genetic studies. This paper describes the results of a comprehensive clinical, instrumental and genetic study using next-generation sequencing (NGS) technologies in two patients with DCM masked by pregnancy.
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Copyright (c) 2024 Тимур Абдуллаев , Игорь Цой , Саодат Мирзарахимова , Анвар Куватов , Отабек Худойберганов, Наталья Чакова (Автор)
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