Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

• DOI: 10.1093/eurheartj/ehac235
• Publication Date: 2022-04-26T13:25:22Z
• Authors: Alexandros Proton...; Riccardo Bariani; Chiara Cappelletto; Menelaos Pavlou; Alba García-García; Alberto Cipriani; Ioannis Protonota...; Adrian Rivas; Regitze Wittenberg; Maddalena Graziosi; Zafeirenia Xylouri; José M Larrañaga-...; Antonio de Luca; Rudy Celeghin; Kalliopi Pilichou; Athanasios Bakalakos; Luis Rocha Lopes; Konstantinos Savv...; Davide Stolfo; Matteo Dal Ferro; Marco Merlo; Cristina Basso; Javier Limeres Fr...; Jose F Rodriguez-...; Toru Kubo; Tomas Ripoll-Vera; Roberto Barriales...; Loizos Antoniades; Jens Mogensen; Pablo Garcia-Pavia; Karim Wahbi; Elena Biagini; Aris Anastasakis; Adalena Tsatsopoulou; Esther Zorio; Juan R Gimeno; Jose Manuel Garci...; Petros Syrris; Gianfranco Sinagra; Barbara Bauce; Perry M Elliott
• Keywords: Risk Stratification; Calculator

Abstract Aims To study the impact of genotype on performance 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results The cohort comprised 554 patients with a definite diagnosis ARVC no history sustained arrhythmia (VA). During median follow-up 6.0 (3.1,12.5) years, 100 (18%) experienced primary VA outcome (sustained tachycardia, appropriate implantable cardioverter defibrillator intervention, aborted sudden cardiac arrest, or death) corresponding to an annual event rate 2.6% [95% confidence interval (CI) 1.9–3.3]. Risk estimates using showed reasonable discriminative ability but overestimation risk. was compared in four gene groups: PKP2 (n = 118, 21%); desmoplakin (DSP) 79, 14%); other desmosomal 59, 11%); elusive 160, 29%). Discrimination calibration were highest lowest gene-elusive group. Univariable analyses revealed variable individual clinical markers different groups, e.g. dimensions systolic function are significant not DSP opposite is true left function. Conclusion performs reasonably well gene-positive (particularly PKP2) more limited patients. Genotype should be included future models ARVC.