作者
Steven Muller, Babken Asatryan, Arco Teske, Alessio Gasperetti, Ahmad S Amin, Peter Loh, Richard Carrick, Moniek Cox, Pim Harst, Marish Oerlemans, Crystal Tichnell, Sing-Chien Yap, Brittney A Murray, Peter van Tintelen, Hugh Calkins, Anneline Te Riele, Cynthia A James
发表日期
2024/5/1
期刊
Heart Rhythm
卷号
21
期号
5
页码范围
S704-S705
出版商
Elsevier
简介
Background
There is an increasing body of evidence showing that penetrance and risk of ventricular arrhythmias (VA) differs among genes in arrhythmogenic right ventricular cardiomyopathy (ARVC). However, guidelines recommend a one-size-fits-all screening approach to monitor at-risk relatives. As such, there is a need for gene specific family screening protocols to monitor these individuals.
Objective
Determine the probability and predictors of definite ARVC diagnosis and VA among at-risk relatives harboring a (likely) pathogenic (LP/P) plakophilin-2 (PKP2) variant.
Methods
We included all relatives harboring a LP/P PKP2 variant referred for family screening from 5 US and Dutch centers. Relatives underwent ECG, Holter monitor, and cardiac imaging at baseline and follow-up. Subjects were divided by baseline clinical phenotype as defined by the 2010 Task Force Criteria (TFC):“possible ARVC”(only genetic …
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S Muller, B Asatryan, A Teske, A Gasperetti, AS Amin… - Heart Rhythm, 2024