Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 May 24:10:1205787.
doi: 10.3389/fcvm.2023.1205787. eCollection 2023.

Genetic landscape in Russian patients with familial left ventricular noncompaction

Alexey N Meshkov #  1   2   3   4 , Roman P Myasnikov #  1 , Anna V Kiseleva #  1 , Olga V Kulikova #  1 , Evgeniia A Sotnikova  1 , Maria M Kudryavtseva  1 , Anastasia A Zharikova  1   5 , Sergey N Koretskiy  1 , Elena A Mershina  6 , Vasily E Ramensky  1   5 , Marija Zaicenoka  7 , Yuri V Vyatkin  1   8 , Maria S Kharlap  1 , Tatiana G Nikityuk  1 , Valentin E Sinitsyn  6 , Mikhail G Divashuk  1   9 , Vladimir A Kutsenko  1   10 , Elena N Basargina  11 , Vladimir I Barskiy  11 , Nataliya A Sdvigova  11 , Olga P Skirko  1 , Irina A Efimova  1 , Maria S Pokrovskaya  1 , Oxana M Drapkina  1
Affiliations

Genetic landscape in Russian patients with familial left ventricular noncompaction

Alexey N Meshkov et al. Front Cardiovasc Med. .

Abstract

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.

Keywords: LVNC; MYH7; TTN; family form; genetic screening; left ventricular noncompaction cardiomyopathy.

PubMed Disclaimer

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
LVNC subtypes diagram of the studied patients.
See this image and copyright information in PMC

References

    1. Stöllberger C, Wegner C, Finsterer J. Left ventricular hypertrabeculation/noncompaction, cardiac phenotype, and neuromuscular disorders. Herz. (2019) 44:659–65. 10.1007/s00059-018-4695-1 - DOI - PubMed
    1. Jenni R, Oechslin E, Schneider J, Jost CA, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. (2001) 86:666–71. 10.1136/heart.86.6.666 - DOI - PMC - PubMed
    1. Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, et al. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol. (2005) 46:101–5. 10.1016/j.jacc.2005.03.045 - DOI - PubMed
    1. Ichida F. Left ventricular noncompaction−risk stratification and genetic consideration. J. Cardiol. (2020) 75:1–9. 10.1016/j.jjcc.2019.09.011 - DOI - PubMed
    1. Hirono K, Hata Y, Miyao N, Okabe M, Takarada S, Nakaoka H, et al. Increased burden of ion channel gene variants is related to distinct phenotypes in pediatric patients with left ventricular noncompaction. Circ Genom Precis Med. (2020) 13:e002940. 10.1161/CIRCGEN.119.002940 - DOI - PubMed

LinkOut - more resources