Open AccessVariant of the <i>FLNC</i> gene nucleotide sequence in a family with different phenotypic manifestations of left ventricular non-compaction
Author(s) -
О. В. Куликова,
Р. П. Мясников,
А. Н. Мешков,
М. М. Кудрявцева,
Е. А. Мершина,
А. В. Киселева,
Mikhail G. Divashuk,
М. С. Харлап,
С. Н. Корецкий,
В. Е. Синицын,
О. М. Драпкина
Publication year - 2021
Publication title -
rossijskij kardiologičeskij žurnal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.141
H-Index - 14
eISSN - 2618-7620
pISSN - 1560-4071
DOI - 10.15829/1560-4071-2021-4748
Subject(s) - phenotype , genetics , gene , left ventricular noncompaction , medicine , genetic heterogeneity , biology , cardiology , cardiomyopathy , heart failure
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.