Family Screening in Relatives at Risk for Plakophilin-2–Associated Arrhythmogenic Right Ventricular Cardiomyopathy
Jan 1, 2025·,,,,,,,,,,,,,,,,,,,,,·
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MD Steven A. Muller
J. Hopkins
Arvc Program
MD Babken Asatryan
PhD Alessio Gasperetti
PhD Maarten
MD J. Cramer
P. Amin
Peter Loh
PhD Richard T. Carrick
PhD Moniek G. P. J. Cox
Priya Md
PhD Marish
MD PhD I. F. J. Oerlemans
Mgc RN Crystal Tichnell
MD PhD Sing-Chien Yap
MS Cgc Brittney Murray
MD Stefan L. Zimmerman
MD PhD Hugh Peter Van Tintelen
M. Calkins
MD Te Riele
PhD Cynthia A. James
Abstract
BACKGROUND: Penetrance and risk of ventricular arrhythmias (VAs) in arrhythmogenic right ventricular cardiomyopathy (ARVC) are increasingly recognized as being genotype specific. Therefore, genotype-informed family screening protocols may lead to safer and more personalized recommendations than the current one-size-fits-all screening recommendations. We aimed to develop a safe, evidence-based plakophilin-2 (PKP2)–specific longitudinal screening algorithm. METHODS: We included 295 relatives (41% male; age 30.9 years [18.0–47.7 years]) with a pathogenic or likely pathogenic PKP2 variant from 145…
Type
Publication
Circulation