RBM20的变异在扩张型心肌病家族病例中所占比例为2%至6%，可能与致命性室性心律失常和心力衰竭迅速进展有关。我们旨在确定RBM20变异携带者的不良事件风险以及性别对结果的影响。连续招募12个心肌病单位的携带RBM20变异的患者及其亲属。主要终点是恶性室性心律失常（MVA）和晚期心力衰竭（ESHF）的综合终点。也单独分析了MVA和ESHF终点，并比较了男性和女性之间的差异。分析了与MVA同时的左室射血分数（LVEF）。将具有左室收缩功能不全的RBM20变异携带者（RBM20LVSD）与特发性左室收缩功能不全患者进行比较。共有143名RBM20变异携带者（男性71名；中位年龄35.5岁）的纵向随访数据可用；其中7名在基线时发生了MVA事件。136名没有基线MVA的人中有30名（22.0%）达到了主要终点，还有16名（11.8%）发生了新的MVA，男性和女性之间没有显著差异（对数秩检验P=0.07和P=0.98，分别）。143名中有20名（14.0%）出现了ESHF（男性17名，女性3名；对数秩检验P<0.001）。有可用的MVA发生同时的LVEF的10名患者中有4名LVEF>35%。在5年内，67名RBM20LVSD患者中有15名（22.4%）达到了主要终点，而197名特发性左室收缩功能不全患者中有7名（3.6%）达到终点（对数秩检验P<0.001）。携带RBM20变异会使主要终点的风险增加6倍。与特发性左室收缩功能不全相比，RBM20变异与MVA和ESHF的风险较高。男性和女性RBM20变异携带者的MVA风险相似，但男性性别与ESHF密切相关。

Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in RBM20 variant carriers and the impact of sex on outcomes.Consecutive probands and relatives carrying RBM20 variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF). MVA and ESHF end points were also analyzed separately and males and females compared. Left ventricular ejection fraction (LVEF) contemporary to MVA was examined. RBM20 variant carriers with left ventricular systolic dysfunction (RBM20LVSD) were compared with variant-elusive patients with idiopathic left ventricular systolic dysfunction.Longitudinal follow-up data were available for 143 RBM20 variant carriers (71 male; median age, 35.5 years); 7 of 143 had an MVA event at baseline. Thirty of 136 without baseline MVA (22.0%) reached the primary end point, and 16 of 136 (11.8%) had new MVA with no significant difference between males and females (log-rank P=0.07 and P=0.98, respectively). Twenty of 143 (14.0%) developed ESHF (17 males and 3 females; log-rank P<0.001). Four of 10 variant carriers with available LVEF contemporary to MVA had an LVEF >35%. At 5 years, 15 of 67 (22.4%) RBM20LVSD versus 7 of 197 (3.6%) patients with idiopathic left ventricular systolic dysfunction had reached the primary end point (log-rank P<0.001). RBM20 variant carriage conferred a 6.0-fold increase in risk of the primary end point.RBM20 variants are associated with a high risk of MVA and ESHF compared with idiopathic left ventricular systolic dysfunction. The risk of MVA in male and female RBM20 variant carriers is similar, but male sex is strongly associated with ESHF.