Heart failure & cardiomyopathiesResearch article
Yield of Family Screening in Arrhythmogenic Right Ventricular Cardiomyopathy Without a Validated Genetic Cause
- family screening study
Authors' conclusion
These findings highlight the importance of managing first-degree relatives of ARVC probands without a validated genetic cause similarly to genotype-positive ARVC relatives. Furthermore, using a broad cardiomyopathy and arrhythmia gene panel in ARVC probands, rather than limiting testing to validated ARVC genes alone, is warranted.
Study context
- Population
- First-degree relatives of arrhythmogenic right ventricular cardiomyopathy (ARVC) probands meeting the 2010 Task Force Criteria without P/LP variants in validated ARVC genesrelatives from 24 families
- Participants
- 44 relatives
- Comparison
- relatives from families with a P/LP variant and relatives from families without a P/LP variant
- Outcome
- definite ARVC by the 2010 Task Force Criteria
Main finding
As reported in the abstract
relatives with definite ARVC at baseline evaluation
10 (23%)
of the 20 relatives without definite ARVC who had follow-up available, progressed to definite ARVC during 9.0 (5.8-14.4) years of follow-up
8/20 (40%)
Secondary outcomes
ventricular arrhythmia (secondary end point)
- of the 27 relatives who had follow-up available, ventricular arrhythmia observed
- 2/27 (7%)
- occurred years after definite ARVC diagnosis
- 6.3 and 13.8
- Both of those relatives were from families without a P/LP variant
P/LP variant in a different cardiomyopathy/arrhythmia gene
- families
- 4 (17%)
Original publication
Summarised from the published abstract; every number is checked against it