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FLNC Cardiomyopathy — EECC MCQ

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HardCardiomyopathyFLNC CardiomyopathyEECC

A 50-year-old woman with newly diagnosed DCM (LVEF 30%) has a first-degree relative (mother) who died suddenly at age 45 from confirmed DCM. Genetic testing of the proband reveals a pathogenic variant in the FLNC gene (filamin C truncating variant). What is the significance?

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Correct answer: C — FLNC truncating variants are associated with a high risk of ventricular arrhythmias and SCD, often disproportionate to the degree of LV dysfunction; primary prevention ICD should be strongly considered regardless of LVEF threshold

Filamin C (FLNC) truncating variants are a recognised cause of DCM with a distinctive phenotype: high arrhythmic risk, ring-like mid-wall LGE on CMR, and risk of SCD that may be disproportionate to the degree of LV dysfunction (similar to LMNA). The 2023 ESC Cardiomyopathy Guidelines identify FLNC truncating variants (alongside LMNA, PLN, and RBM20) as 'arrhythmogenic genotypes' where the standard LVEF ≤35% threshold for primary prevention ICD may be insufficient. ICD should be considered at higher LVEF thresholds when supported by additional risk factors (NSVT, syncope, extensive LGE, family history of SCD). Cascade genetic screening of first-degree relatives is essential.

Reference: ESC (2023): Guidelines on Cardiomyopathies