Variant of the FLNC gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction

• Published in: Rossiĭskiĭ kardiologicheskiĭ zhurnal Vol. 26; no. 10; p. 4748
• Main Authors: Kulikova, O. V., Myasnikov, R. P., Meshkov, A. N., Kudryavtseva, M. M., Mershina, E. A., Kiseleva, A. V., Divashuk, M. G., Kharlap, M. S., Koretsky, S. N., Sinitsyn, V. E., Drapkina, O. M.
• Format: Journal Article
• Language: English; Russian
• Published: FIRMA «SILICEA» LLC 22.11.2021
• Subjects: atherosclerosis; familial forms; filamin c; flnc; heart failure; left ventricular non-compaction; stroke; sudden cardiac death; thromboembolism
• ISSN: 1560-4071; 2618-7620
• DOI: 10.15829/1560-4071-2021-4748

Left ventricular non-compaction is a heterogeneous heart disease with various phenotypic and clinical manifestations. The article presents the results of clinical, instrumental and molecular genetic investigations of a family with diagnosed left ventricular non-compaction (LVNC) with different clinical and phenotypic manifestations. As a result of a molecular genetic testing, all family members with the LVNC phenotype were found to have a likely pathogenic variant in the FLNC gene. Variants in this gene are associated with a number of cardiomyopathies: dilated, hypertrophic, and restrictive. In the international scientific literature, isolated clinical cases of LVNC development with variants of the FLNC gene nucleotide sequence are presented. In our work, we present a case report of LVNC with a variety of clinical manifestations within the same family.