PDF(Pubmed)
Abstract：
It is arduous to determine clinical solutions for Andersen-Tawil syndrome (ATS) in patients intolerant of β-blocker. Here, we present the case of a 7-year-old boy with periodic paralysis and dysmorphic features who experienced syncope four times during exercise. His ECG revealed enlarged U waves and QU-prolongation associated with ATS-specific U wave patterns, frequent PVCs, and non-sustained bidirectional or polymorphic ventricular tachycardia. The genetic test showed a de novo missense R218W mutation of KCNJ2. With the diagnosis of ATS and intolerance of β-blocker, the patient was prescribed oral medications of mexiletine 450 mg/day without severe adverse effects. The repeat ECG showed decreased PVC burden from 38 to 3% and absence of ventricular tachycardia. He remained symptom-free during over 2 years of outpatient follow-up. This case demonstrates a new anti-arrhythmic therapy with mexiletine for prevention of life-threatening cardiac events in patients with ATS who are intolerant of β-blocker treatment.
摘要：
确定不耐受β受体阻滞剂的患者的Andersen-Tawil综合征（ATS）的临床解决方案是艰巨的。这里,我们介绍了一个7岁男孩的案例，该男孩具有周期性瘫痪和畸形特征，在运动期间经历了四次晕厥。他的心电图显示U波增大和QU延长与ATS特异性U波模式相关，频繁的PVC，和非持续性双向或多形性室性心动过速。遗传测试显示KCNJ2的从头错义R218W突变。随着ATS的诊断和β受体阻滞剂的不耐受，患者口服美西律450mg/日,无严重不良反应.重复心电图显示PVC负荷从38％降低到3％，并且没有室性心动过速。在超过2年的门诊随访期间，他仍然无症状。该病例证明了美西律的一种新的抗心律失常疗法，可预防对β受体阻滞剂治疗不耐受的ATS患者危及生命的心脏事件。
