Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Genetic landscape in Russian patients with familial left ventricular noncompaction. / Meshkov, Alexey N; Myasnikov, Roman P; Kiseleva, Anna V и др.
в: Frontiers in cardiovascular medicine, Том 10, 1205787, 2023.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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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