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

Abstract

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.

Keywords

• left ventricular non-compaction
• atherosclerosis
• heart failure
• sudden cardiac death
• familial forms
• thromboembolism
• stroke
• filamin c
• flnc