Genetic landscape in Russian patients with familial left ventricular noncompaction

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, incl...

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Published in:Frontiers in cardiovascular medicine 2023-05, Vol.10, p.1205787-1205787
Main Authors: 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
Format: Article
Language:English
Subjects:
Cardiovascular Medicine
family form
genetic screening
left ventricular noncompaction cardiomyopathy
LVNC
MYH7
TTN
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Summary: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). 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. 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
ISSN:2297-055X
2297-055X
DOI:10.3389/fcvm.2023.1205787