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.

中文翻译：

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使用 2019 ARVC 风险计算器分析基因型对致心律失常性右心室心肌病风险分层的重要性。


目的 研究基因型对 2019 年致心律失常性右心室心肌病 (ARVC) 风险模型性能的影响。方法和结果 研究队列由 554 名明确诊断为 ARVC 且无持续性室性心律失常 (VA) 病史的患者组成。在中位随访 6.0 (3.1,12.5) 年期间，100 名患者 (18%) 经历了与年事件发生率为 2.6% [95% 置信区间 (CI) 1.9-3.3]。使用 2019 ARVC 风险模型对 VA 进行的风险估计显示出合理的判别能力，但风险估计过高。 ARVC 风险模型在四个基因组中进行了比较：PKP2（n = 118，21%）；桥粒斑蛋白 (DSP) (n = 79, 14%)；其他桥粒 (n = 59, 11%)；且基因难以捉摸（n = 160, 29%）。 PKP2 的辨别力和校准度最高，而基因难以捉摸的组的辨别力和校准度最低。单变量分析揭示了不同基因组中个体临床风险标志物的不同表现，例如，右心室尺寸和收缩功能是PKP2中的显着风险标志物，但在DSP患者中并非如此，而左心室收缩功能则相反。结论 2019 ARVC 风险模型在基因阳性 ARVC（尤其是 PKP2）中表现相当良好，但在基因难以捉摸的患者中表现更为有限。基因型应包含在未来 ARVC 风险模型中。