Arrhythmias & electrophysiology
Arrhythmic Risk Stratification of Carriers of Filamin C Truncating Variants
Authors' conclusion
Results suggest that the risk of SCD/MVA in phenotype-positive carriers of FLNCtv was high.
Study context
- Population
- Carriers of pathogenic or likely pathogenic filamin C truncating variants (FLNCtv)112 (36%) probands
- Participants
- 308 carriers
- Outcome
- Composite of:
- SCD
- Major ventricular arrhythmias (aborted SCD, sustained VT, appropriate implantable cardioverter-defibrillator (ICD) interventions)
Methodological detailsinternational, multicentre, 19 referral centres
- International
- Multicentre
- 19 referral centres
Main finding
As reported in the abstract
SCD/MVA · median follow-up 34 (8-63) months
Individuals with sudden cardiac death (SCD)/MVA
57
19%
Annual incidence rate (per 100 person-years)
4
95% CI 3–6
Observational data: associations, not effects.
Further findings
5-variable predictive model (older age, male sex, previous syncope, NSVT, left ventricular ejection fraction (LVEF))
- Time-dependent AUC at 12 months
- 0.76 (95% CI, 0.67-0.86)
- Time-dependent AUC at 72 months
- 0.78 (95% CI, 0.70-0.86)
- LVEF association non-linear: significant lower risk for LVEF >58%, no increase for LVEF <58%
- Internal validation with bootstrapping confirmed good accuracy and calibration
- Consistent in subgroups (phenotype-positive carriers; phenotype-positive carriers without MVA at onset)
Original publication
Arrhythmic Risk Stratification of Carriers of Filamin C Truncating Variants. JAMA Cardiol. Published 1 April 2025. doi:10.
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