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Article

Variable clinical expression of a novel FLNC truncating variant in a large family.

International journal of cardiology - 15 Apr 2024

Tomer Orr, Horowitz-Cederboim Smadar, Rivkin Dini, Meiner Vardiella, Gollob Michael H, Zwas Donna R, Durst Ronen, Shauer Ayelet

Abstract excerpt

BACKGROUND: Variants in Filamin-C (FLNC) have been associated with various hereditary cardiomyopathies. Recent literature reports a prevalence of sudden cardiac death (SCD) of 13-25% among carriers of truncating-variants, with mean age of 42±15 years for first SCD event. This study reports two familial cases of SCD and the results of cascade screening of their large family. METHODS: Molecular-autopsy of the SCD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38360096
DOI: 10.1016/j.ijcard.2024.131849

Genes

SCD
FLNC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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