Genetic landscape in Russian patients with familial left ventricular noncompaction

Meshkov, A.N.; Myasnikov, R.P.; Kiseleva, A.V.; Kulikova, O.V.; Sotnikova, E.A.; Kudryavtseva, M.M.; Zharikova, A.A.; Koretskiy, S.N.; Mershina, E.A.; Ramensky, V.E.; Zaicenoka, M.; Vyatkin, Y.V.; Kharlap, M.S.; Nikityuk, T.G.; Sinitsyn, V.E.; Divashuk, M.G.; Kutsenko, V.A.; Basargina, E.N.; Barskiy, V.I.; Sdvigova, N.A.; Skirko, O.P.; Efimova, I.A.; Pokrovskaya, M.S.; Drapkina, O.M.

Авторы: Meshkov Alexey N., Myasnikov Roman P., Kiseleva Anna V., Kulikova Olga V., Sotnikova Evgeniia A., Kudryavtseva Maria M., Zharikova Anastasia A., Koretskiy Sergey N., Mershina Elena A., Ramensky Vasily E., Zaicenoka Marija, Vyatkin Yuri V., Kharlap Maria S., Nikityuk Tatiana G., Sinitsyn Valentin E., Divashuk Mikhail G., Kutsenko Vladimir A., Basargina Elena N., Barskiy Vladimir I., Sdvigova Nataliya A., Skirko Olga P., Efimova Irina A., Pokrovskaya Maria S., Drapkina Oxana M.
Журнал: FRONTIERS IN CARDIOVASCULAR MEDICINE
Том: 10
Год издания: 2023
Номер статьи: 1205787
DOI: 10.3389/fcvm.2023.1205787
Аннотация: Background: Left ventricular noncompaction (LVNC) cardiomyopathy is a disorder that can be complicated by heart failure, arrhythmias, thromboembolism, and sudden cardiac death. The aim of this study is to clarify the genetic landscape of LVNC in a large cohort of well-phenotyped Russian patients with LVNC, including 48 families (n=214).Methods: All index patients underwent clinical examination and genetic analysis, as well as family members who agreed to participate in the clinical study and/or in the genetic testing. The genetic testing included next generation sequencing and genetic classification according to ACMG guidelines.Results: A total of 55 alleles of 54 pathogenic and likely pathogenic variants in 24 genes were identified, with the largest number in the MYH7 and TTN genes. A significant proportion of variants −8 of 54 (14.8%) −have not been described earlier in other populations and may be specific to LVNC patients in Russia. In LVNC patients, the presence of each subsequent variant is associated with increased odds of having more severe LVNC subtypes than isolated LVNC with preserved ejection fraction. The corresponding odds ratio is 2.77 (1.37 −7.37; p <0.001) per variant after adjustment for sex, age, and family.Conclusion: Overall, the genetic analysis of LVNC patients, accompanied by cardiomyopathy-related family history analysis, resulted in a high diagnostic yield of 89.6%. These results suggest that genetic screening should be applied to the diagnosis and prognosis of LVNC patients.
Добавил в систему: Жарикова Анастасия Александровна

	ИСТИНА	Войти в систему Регистрация
	Интеллектуальная Система Тематического Исследования НАукометрических данных
	Главная Поиск Статистика О проекте Помощь

ИСТИНА

Интеллектуальная Система Тематического Исследования НАукометрических данных

Genetic landscape in Russian patients with familial left ventricular noncompactionстатья Электронная публикация

Прикрепленные файлы