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00925njm 22002777a 4500 dc Protonotarios, Alexandros author Bariani, Riccardo author Cappelletto, Chiara author Pavlou, Menelaos author García-García, Alba author Cipriani, Alberto author Protonotarios, Ioannis author Rivas, Adrian author Wittenberg, Regitze author Graziosi, Maddalena author Xylouri, Zafeirenia author Larrañaga-Moreira, José M author de Luca, Antonio author Celeghin, Rudy author Pilichou, Kalliopi author Bakalakos, Athanasios author Lopes, Luis Rocha author Savvatis, Konstantinos author Stolfo, Davide author Dal Ferro, Matteo author Merlo, Marco author Basso, Cristina author Freire, Javier Limeres author Rodriguez-Palomares, Jose F author Kubo, Toru author Ripoll-Vera, Tomas author Barriales-Villa, Roberto author Antoniades, Loizos author Mogensen, Jens author Garcia-Pavia, Pablo author Wahbi, Karim author Biagini, Elena author Anastasakis, Aris author Tsatsopoulou, Adalena author Zorio, Esther author Gimeno, Juan R author Garcia-Pinilla, Jose Manuel author Syrris, Petros author Sinagra, Gianfranco author Bauce, Barbara author Elliott, Perry M author 2022 Aims: To study the impact of genotype on the performance of the 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results: The study cohort comprised 554 patients with a definite diagnosis of ARVC and no history of sustained ventricular arrhythmia (VA). During a median follow-up of 6.0 (3.1,12.5) years, 100 patients (18%) experienced the primary VA outcome (sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator intervention, aborted sudden cardiac arrest, or sudden cardiac death) corresponding to an annual event rate of 2.6% [95% confidence interval (CI) 1.9-3.3]. Risk estimates for VA using the 2019 ARVC risk model showed reasonable discriminative ability but with overestimation of risk. The ARVC risk model was compared in four gene groups: PKP2 (n = 118, 21%); desmoplakin (DSP) (n = 79, 14%); other desmosomal (n = 59, 11%); and gene elusive (n = 160, 29%). Discrimination and calibration were highest for PKP2 and lowest for the gene-elusive group. Univariable analyses revealed the variable performance of individual clinical risk markers in the different gene groups, e.g. right ventricular dimensions and systolic function are significant risk markers in PKP2 but not in DSP patients and the opposite is true for left ventricular systolic function. Conclusion: The 2019 ARVC risk model performs reasonably well in gene-positive ARVC (particularly for PKP2) but is more limited in gene-elusive patients. Genotype should be included in future risk models for ARVC. Protonotarios A, Bariani R, Cappelletto C, Pavlou M, García-García A, Cipriani A, et al. Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator. Eur Heart J. 29 jun 2022. 10.1093/eurheartj/ehac235 1522-9645 European heart journal http://hdl.handle.net/10668/19768 http://hdl.handle.net/20.500.13003/18537 35766183 L638357746 2-s2.0-85137008490 http://hdl.handle.net/20.500.12105/18572 817959700001 Arrhythmogenic right ventricular cardiomyopathy Genotype Risk stratification Sudden cardiac death Ventricular arrhythmia Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator