Key result
Genetic screening identified pathogenic desmosomal mutations in 58% of ARVD/C index patients, revealing a 6-fold increased risk of ARVD/C diagnosis in mutation-carrying relatives (31% vs 5%).
Why the study?
What is the prevalence of pathogenic desmosomal gene mutations in ARVD/C index patients and the yield of clinical screening in their relatives?
Observational (n=451)
What is the prevalence of pathogenic desmosomal gene mutations in ARVD/C index patients and the yield of clinical screening in their relatives?
Effect estimate: RR 6.0
Absolute Event Rate: 31% vs 5%
Pathogenic desmosomal mutations, primarily in PKP2, are found in 58% of Dutch ARVD/C index patients, and genetic screening identifies relatives with a 6-fold increased risk of developing the disease.
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Supports screening of mutation-carrying ARVD/C relatives; extends prevalence data but remains hypothesis-generating.
Cox et al. (2011) conducted an observational in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (n=451). Genetic screening for desmosomal gene mutations vs. Relatives without mutation was evaluated on ARVD/C diagnosis in initially asymptomatic relatives (RR 6.0). Genetic screening identified pathogenic desmosomal mutations in 58% of ARVD/C index patients, revealing a 6-fold increased risk of ARVD/C diagnosis in mutation-carrying relatives (31% vs 5%).
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