Abstract：
The Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder due to the deficiency in the α-galactosidase A enzyme. Cardiovascular mortality is a major cause of death in patients with AFD and sudden cardiac death (SCD) is one of the main causes of death. The storage of glycosphingolipid along with ionic channel impairment, inflammation and fibrosis are involved in the arrhythmogenesis. Some risk factors have been associated with ventricular tachycardia (VT)/ventricular fibrillation (VF) and SCD. Left ventricular hypertrophy (LVH), cardiac fibrosis, non-sustained VTs seem to be the most important. Older age and male gender might be associated with higher risk of ventricular arrhythmias and SCD. Currently, the implantable cardioverter-defibrillator (ICD) is recommended in patients with AFD who have survived a cardiac arrest secondary to VT/VF or who experienced sustained VT causing syncope or hemodynamic compromise, and have a life expectancy >1 year. ICD implantation is also recommended in patients considered to be at high risk (e.g., patients with severe LVH or fibrosis). The present review sought to summarize the risk of ventricular arrythmias in AFD, the indications for ICD, focusing on pathophysiology and analyzing the role of possible predictors of arrhythmias in preventing SCD, especially as primary prevention.
摘要：
Anderson-Fabry病（AFD）是由于α-半乳糖苷酶A酶缺乏而导致的X连锁溶酶体贮积症。心血管死亡是导致AFD患者死亡的主要原因,而心源性猝死(SCD)是导致AFD患者死亡的主要原因之一。鞘糖脂的储存以及离子通道受损，炎症和纤维化与心律失常的发生有关。一些危险因素与室性心动过速（VT）/心室纤颤（VF）和SCD有关。左心室肥厚(LVH),心脏纤维化，非持续性VT似乎是最重要的。年龄和男性可能与室性心律失常和SCD的高风险相关。目前,在室性心动过速/室颤继发心脏骤停或经历持续室性心动过速导致晕厥或血流动力学受损的AFD患者中,推荐使用植入式心律转复除颤器(ICD)。预期寿命>1年。还建议在被认为是高风险的患者中植入ICD（例如，严重LVH或纤维化患者）。本综述旨在总结AFD中室性心律失常的风险。ICD的适应症,关注病理生理学并分析心律失常的可能预测因子在预防SCD中的作用，尤其是一级预防。
