Key result
All family members with the left ventricular non-compaction phenotype were found to have a likely pathogenic variant in the FLNC gene.
Why the study?
Left ventricular non-compaction is clinically heterogeneous, and only isolated clinical cases of its development with FLNC gene nucleotide sequence variants have been reported.
Case Report
Identifies a likely pathogenic variant in the FLNC gene associated with diverse phenotypic manifestations of left ventricular non-compaction within a single family.
FLNC variant may underlie familial LVNC; hypothesis-generating and should not yet change clinical genetic evaluation.
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.
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Куликова et al. (2021) conducted a case report in Left ventricular non-compaction (LVNC). FLNC gene variant was evaluated. All family members with the left ventricular non-compaction phenotype were found to have a likely pathogenic variant in the FLNC gene.
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