Bhonsale Aditya, Te Riele Anneline S J M, Sawant Abhishek C, Groeneweg Judith A, James Cynthia A, Murray Brittney, Tichnell Crystal, Mast Thomas P, van der Pols Michelle J, Cramer Maarten J M, Dooijes Dennis, van der Heijden Jeroen F, Tandri Harikrishna, van Tintelen J Peter, Judge Daniel P, Hauer Richard N W, Calkins Hugh
Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.
Heart Rhythm. 2017 Jun;14(6):883-891. doi: 10.1016/j.hrthm.2017.02.013. Epub 2017 Feb 12.
The clinical profile of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) patients with late presentation is unknown.
The purpose of this study was to characterize the genotype, cardiac phenotype, and long-term outcomes of ARVC/D patients with late presentation (age ≥50 years at diagnosis).
Five hundred two patients with an ARVC/D diagnosis from Johns Hopkins and Utrecht Registries were studied and long-term clinical outcomes ascertained.
Late presentation was seen in 104 patients (21%; 38% PKP2 carriers); 3% were ≥65 years at diagnosis. Sustained ventricular tachycardia was the major (43%) mode of presentation in patients with late presentation, whereas cardiac syncope was infrequent (P <.001). Those with late presentation were significantly less likely to harbor a known pathogenic mutation (53%; P = .005), have less precordial T-wave repolarization changes (P <.001), and have lower ventricular ectopy burden (P = .026). Over median 6-year follow-up, 68 patients with late presentation (65%) experienced sustained ventricular arrhythmias, with similar arrhythmia-free survival at 5-year follow up (P = .48). Left ventricular dysfunction and heart failure were seen in 24 (32%) and 15 patients (14%), respectively, without need for cardiac transplantation. In the late presentation cohort, male sex, pathogenic mutation, right ventricular structural disease, lack of family history, and electrophysiologic study inducibility were associated with increased arrhythmic risk.
One-fifth of all ARVC/D patients present after age 50 years, often with sustained ventricular tachycardia, and are less likely to have prior syncope, ECG changes, ventricular ectopy, or identifiable pathogenic mutation. In ARVC/D, late presentation does not confer a benign prognosis and is associated with high arrhythmic risk.
晚发型致心律失常性右室心肌病/发育不良（ARVC/D）患者的临床特征尚不清楚。
本研究旨在描述晚发型（诊断时年龄≥50岁）ARVC/D患者的基因型、心脏表型及长期预后。
对来自约翰霍普金斯和乌得勒支登记处的502例诊断为ARVC/D的患者进行研究，并确定其长期临床预后。
104例患者（21%；38%为PKP2基因携带者）为晚发型；3%的患者诊断时年龄≥65岁。持续性室性心动过速是晚发型患者的主要（43%）表现形式，而心源性晕厥不常见（P<0.001）。晚发型患者携带已知致病突变的可能性显著降低（53%；P = 0.005），胸前导联T波复极改变较少（P <0.001），室性早搏负担较低（P = 0.026）。在中位6年的随访中，68例（65%）晚发型患者发生了持续性室性心律失常，5年随访时无心律失常生存率相似（P = 0.48）。分别有24例（32%）和15例（14%）患者出现左心室功能障碍和心力衰竭，均无需心脏移植。在晚发型队列中，男性、致病突变、右心室结构疾病、无家族史和电生理检查可诱发性与心律失常风险增加相关。
所有ARVC/D患者中有五分之一在50岁以后发病，常表现为持续性室性心动过速，且既往晕厥、心电图改变、室性早搏或可识别致病突变的可能性较小。在ARVC/D中，晚发型并不意味着预后良好，且与高心律失常风险相关。
