Celeghin R, Cipriani A, Bariani R, et al. - Late-onset presentation and typical electrocardiogram (ECG) and cardiac magnetic resonance (CMR) features characterized the clinical phenotype of FLNC (mutations in filamin-C) cardiomyopathies. Association of sudden cardiac death (SCD) with the presence of left ventricular (LV) late gadolinium enhancement (LGE)/fibrosis but not with severe LV systolic dysfunction was evident.

• An observational, single-center, retrospective study to assess FLNC variants prevalence in a gene-negative arrhythmogenic cardiomyopathy (ACM) population as well as clinical phenotype and SCD risk factors in FLNC-linked cardiomyopathies.

• A cohort of 270 gene-elusive ACM probands had FLNC variants in 4.4% and the same mutation was present in 13 additional family members; a diagnosis of ACM was made in 72% FLNC variant carriers.

• A total of 145 patients with FLNC-associated cardiomyopathies were selected, on pooled analysis.

• On ECG, 37% had low QRS voltages and 24% had T-wave inversion (TWI) in inferolateral/lateral leads.

• LV non-ischemic LGE was evident in 75% of 67 patients who underwent CMR imaging.

• Overall 28 patients (19%) suffered SCD, and they more frequently had inferolateral/lateral TWI and LV LGE/fibrosis vs patients with no SCD.