A clinical case of peripartum cardiomyopathy with shortened variants of the TTN gene

Abdullaev , Timur, Tsoi , Igor, Mirzarakhimova , Saodat, Kuvatov , Anvar, Khudoyberganov , Otabek, Chakova , Natalia, Абдуллаев , Тимур, Цой , Игорь, Мирзарахимова , Саодат, Куватов , Анвар, Худойберганов, Отабек, Чакова , Наталья, Abdullaev , Timur, Tsoi , Igor, Mirzarakhimova , Saodat, Kuvatov , Anvar, Khudoyberganov , Otabek, Chakova , Natalia

Жамият ва инновациялар / Общество и инновации / Society and innovations · 2024-yil

Annotatsiya

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.

Maqola ma’lumotlari
MualliflarAbdullaev , Timur, Tsoi , Igor, Mirzarakhimova , Saodat, Kuvatov , Anvar, Khudoyberganov , Otabek, Chakova , Natalia, Абдуллаев , Тимур, Цой , Игорь, Мирзарахимова , Саодат, Куватов , Анвар, Худойберганов, Отабек, Чакова , Наталья, Abdullaev , Timur, Tsoi , Igor, Mirzarakhimova , Saodat, Kuvatov , Anvar, Khudoyberganov , Otabek, Chakova , Natalia
JurnalЖамият ва инновациялар / Общество и инновации / Society and innovations
Nashr sanasi2024-05-25
Jild5
Son3
Betlar205-212
TilRus
DOI10.47689/2181-1415-vol5-iss3-pp205-212

Kalit so‘zlar

молекулярно-генетическое тестирование, желудочковая тахикардия, ген TTN, МРТ сердца, клинический случай, molecular genetic testing, ventricular tachycardia, TTN gene, cardiac MRI, clinical case

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