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Genetic landscape in Russian patients with familial left ventricular noncompaction. / Meshkov, Alexey N; Myasnikov, Roman P; Kiseleva, Anna V et al.

In: Frontiers in cardiovascular medicine, Vol. 10, 1205787, 2023.

Research output: Contribution to journal › Article › peer-review

Harvard

Meshkov, AN, Myasnikov, RP, Kiseleva, AV, Kulikova, OV, Sotnikova, EA, Kudryavtseva, MM, Zharikova, AA, Koretskiy, SN, Mershina, EA, Ramensky, VE, Zaicenoka, M, Vyatkin, YV, Kharlap, MS, Nikityuk, TG, Sinitsyn, VE, Divashuk, MG, Kutsenko, VA, Basargina, EN, Barskiy, VI, Sdvigova, NA, Skirko, OP, Efimova, IA, Pokrovskaya, MS & Drapkina, OM 2023, 'Genetic landscape in Russian patients with familial left ventricular noncompaction', Frontiers in cardiovascular medicine, vol. 10, 1205787. https://doi.org/10.3389/fcvm.2023.1205787

APA

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., ... Drapkina, O. M. (2023). Genetic landscape in Russian patients with familial left ventricular noncompaction. Frontiers in cardiovascular medicine, 10, [1205787]. https://doi.org/10.3389/fcvm.2023.1205787

Vancouver

Meshkov AN, Myasnikov RP, Kiseleva AV, Kulikova OV, Sotnikova EA, Kudryavtseva MM et al. Genetic landscape in Russian patients with familial left ventricular noncompaction. Frontiers in cardiovascular medicine. 2023;10:1205787. doi: 10.3389/fcvm.2023.1205787

Author

Meshkov, Alexey N ; Myasnikov, Roman P ; Kiseleva, Anna V et al. / Genetic landscape in Russian patients with familial left ventricular noncompaction. In: Frontiers in cardiovascular medicine. 2023 ; Vol. 10.

BibTeX

@article{bee12cb5c2a54beb8b00667285c28502,
title = "Genetic landscape in Russian patients with familial left ventricular noncompaction",
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, LEFT VENTRICULAR NON-COMPACTION CARDIOMYOPATHY, GENETIC SCREENING, FAMILY FORM, MYH7, TTN, family form, genetic screening, left ventricular noncompaction cardiomyopathy",
author = "Meshkov, {Alexey N} and Myasnikov, {Roman P} and Kiseleva, {Anna V} and Kulikova, {Olga V} and Sotnikova, {Evgeniia A} and Kudryavtseva, {Maria M} and Zharikova, {Anastasia A} and Koretskiy, {Sergey N} and Mershina, {Elena A} and Ramensky, {Vasily E} and Marija Zaicenoka and Vyatkin, {Yuri V} and Kharlap, {Maria S} and Nikityuk, {Tatiana G} and Sinitsyn, {Valentin E} and Divashuk, {Mikhail G} and Kutsenko, {Vladimir A} and Basargina, {Elena N} and Barskiy, {Vladimir I} and Sdvigova, {Nataliya A} and Skirko, {Olga P} and Efimova, {Irina A} and Pokrovskaya, {Maria S} and Drapkina, {Oxana M}",
note = "{\textcopyright} 2023 Meshkov, Myasnikov, Kiseleva, Kulikova, Sotnikova, Kudryavtseva, Zharikova, Koretskiy, Mershina, Ramensky, Zaicenoka, Vyatkin, Kharlap, Nikityuk, Sinitsyn, Divashuk, Kutsenko, Basargina, Barskiy, Sdvigova, Skirko, Efimova, Pokrovskaya and Drapkina.",
year = "2023",
doi = "10.3389/fcvm.2023.1205787",
language = "English",
volume = "10",
journal = "Frontiers in cardiovascular medicine",
issn = "2297-055X",
publisher = "Frontiers Media S.A.",

}

RIS

TY - JOUR

T1 - Genetic landscape in Russian patients with familial left ventricular noncompaction

AU - Meshkov, Alexey N

AU - Myasnikov, Roman P

AU - Kiseleva, Anna V

AU - Kulikova, Olga V

AU - Sotnikova, Evgeniia A

AU - Kudryavtseva, Maria M

AU - Zharikova, Anastasia A

AU - Koretskiy, Sergey N

AU - Mershina, Elena A

AU - Ramensky, Vasily E

AU - Zaicenoka, Marija

AU - Vyatkin, Yuri V

AU - Kharlap, Maria S

AU - Nikityuk, Tatiana G

AU - Sinitsyn, Valentin E

AU - Divashuk, Mikhail G

AU - Kutsenko, Vladimir A

AU - Basargina, Elena N

AU - Barskiy, Vladimir I

AU - Sdvigova, Nataliya A

AU - Skirko, Olga P

AU - Efimova, Irina A

AU - Pokrovskaya, Maria S

AU - Drapkina, Oxana M

N1 - © 2023 Meshkov, Myasnikov, Kiseleva, Kulikova, Sotnikova, Kudryavtseva, Zharikova, Koretskiy, Mershina, Ramensky, Zaicenoka, Vyatkin, Kharlap, Nikityuk, Sinitsyn, Divashuk, Kutsenko, Basargina, Barskiy, Sdvigova, Skirko, Efimova, Pokrovskaya and Drapkina.

PY - 2023

Y1 - 2023

N2 - 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.

AB - 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.

KW - LVNC

KW - LEFT VENTRICULAR NON-COMPACTION CARDIOMYOPATHY

KW - GENETIC SCREENING

KW - FAMILY FORM

KW - MYH7

KW - TTN

KW - family form

KW - genetic screening

KW - left ventricular noncompaction cardiomyopathy

UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85162199317&origin=inward&txGid=19ff36ea46ff4208d06f60b2109c56dd

UR - https://elibrary.ru/item.asp?id=53770656

UR - https://www.mendeley.com/catalogue/4b38dea7-c766-37b6-8d3a-3354a72ec25b/

U2 - 10.3389/fcvm.2023.1205787

DO - 10.3389/fcvm.2023.1205787

M3 - Article

C2 - 37342443

VL - 10

JO - Frontiers in cardiovascular medicine

JF - Frontiers in cardiovascular medicine

SN - 2297-055X

M1 - 1205787

ER -

ID: 53397199