Background/purpose

Andersen-Tawil syndrome type 1 is a rare autosomal dominant disease caused by a KCNJ2 gene mutation and clinically characterized by dysmorphic features, periodic muscular paralysis, and frequent ventricular arrhythmias (VAs). Although polymorphic and bidirectional ventricular tachycardias are prevalent, PVCs are the most frequent VAs. In addition, a “dominant” morphology with RBBB pattern associated with either superior or inferior axis is seen in most of the patients. Due to the limited efficacy of most antiarrhythmic drugs, catheter ablation (CA) is an alternative in patients with monomorphic VAs. Based on our experience, we aimed to review the arrhythmogenic mechanisms and substrates for VAs, and we analyzed the potential reasons for CA failure in this group of patients.

Methods

Case report and focused literature review.

Results

Catheter ablation has been reported to be unsuccessful in all of the few cases published so far. Most of the information suggests that VAs are mainly originated from the left ventricle and probably in the Purkinje network. Although identifying well-established and accepted mapping criteria for successful ablation of a monomorphic ventricular arrhythmia, papillary muscles seem not to be the right target.

Conclusions

More research is needed to understand better the precise mechanism and site of origin of VAs in Andersen-Tawil syndrome patients with this particular “dominant” monomorphic ventricular pattern to establish the potential role of CA.

中文翻译：

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Andersen-Tawil 综合征频繁单形性室性心律失常的导管消融：病例报告和重点文献复习

背景/目的

Andersen-Tawil 综合征 1 型是一种罕见的常染色体显性遗传病，由 KCNJ2 基因突变引起，临床特征为畸形特征、周期性肌肉麻痹和频繁的室性心律失常 (VA)。尽管多形性和双向性室性心动过速很普遍，但 PVC 是最常见的 VA。此外，在大多数患者中可以看到具有与上轴或下轴相关的 RBBB 模式的“显性”形态。由于大多数抗心律失常药物的疗效有限，导管消融术 (CA) 是单形性 VA 患者的一种替代方法。根据我们的经验，我们旨在回顾 VA 的致心律失常机制和底物，并分析这组患者 CA 失败的潜在原因。

方法

病例报告和重点文献综述。

结果

据报道，在迄今为止发表的所有少数病例中，导管消融均不成功。大多数信息表明 VA 主要起源于左心室，可能在浦肯野网络中。尽管确定了成功消融单形性室性心律失常的成熟和公认的标测标准，但乳头肌似乎不是正确的目标。

结论

需要更多的研究来更好地了解具有这种特殊“显性”单形心室模式的 Andersen-Tawil 综合征患者 VA 的确切机制和起源部位，以确定 CA 的潜在作用。