Heart failure & cardiomyopathies
Family Screening in Relatives at Risk for Plakophilin-2–Associated Arrhythmogenic Right Ventricular Cardiomyopathy
Main finding · Definite ARVC developmentResult — go to the resultHazard ratio 2.23Authors' conclusion
An evidence-based longitudinal screening algorithm that integrates age, symptoms, and baseline clinical phenotype may improve patient care and improve efficiency of clinical resource allocation.
Study context
- Population
- Relatives with a pathogenic or likely pathogenic PKP2 variant (arrhythmogenic right ventricular cardiomyopathy (ARVC) family screening)145 families
- Participants
- 295 relatives
- Exposure
- Borderline ARVC vs G+/P-
- Outcome
- Progression to definite ARVC (2010 Task Force Criteria) and VA (sudden cardiac arrest/death, sustained VT, VF or appropriate ICD intervention)
- Follow-up
- 8.5 years (4.2-12.9 years)
Methodological detailslongitudinal family screening, multistate modeling
- Longitudinal family screening
- Multistate modeling
Main finding
Definite ARVC development · 8.5 years (4.2-12.9 years)
Hazard ratio
2.23
P = 0.012
As reported in the abstract
- Definite ARVC at baseline
- 110 (37%)
- Progressed to definite ARVC among relatives without definite ARVC at baseline
- 62 of 185 (34%)
- VA among all relatives
- 35 of 295 (12%)
- Borderline ARVC progressed to definite ARVC faster than G+/P- (multistate model)
- 5 times
Observational data: associations, not effects.
Further findings
Derived screening protocols (3 risk profiles)
- Borderline ARVC: annual ECG and Holter; complete evaluation every 2 years
- Younger (<40 years) or symptomatic G+/P-: ECG and Holter every 2 years; complete evaluation every 4 years
- Older (≥40 years) and asymptomatic G+/P-: complete evaluation every 5 years
Original publication
Family Screening in Relatives at Risk for Plakophilin-2–Associated Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation. Published 17 June 2025. doi:10.
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