Yang Jing, Li Kun, Lv Tingting, Xie Ying, Liu Fang, Zhang Ping
School of Clinical Medicine, Tsinghua University, Beijing, China.
Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.
Front Cardiovasc Med. 2022 Aug 25;9:992185. doi: 10.3389/fcvm.2022.992185. eCollection 2022.
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 missense R218W mutation of . 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.
对于不耐受β受体阻滞剂的安德森-陶威尔综合征（ATS）患者而言，确定临床解决方案颇具难度。在此，我们报告一例7岁男孩，其患有周期性麻痹和畸形特征，在运动期间发生了4次晕厥。他的心电图显示U波增大、QU间期延长，伴有ATS特异性U波形态、频发室性早搏以及非持续性双向或多形性室性心动过速。基因检测显示存在R218W错义突变。在诊断为ATS且不耐受β受体阻滞剂后，该患者接受了美西律口服治疗，剂量为450毫克/天，未出现严重不良反应。复查心电图显示室性早搏负荷从38%降至3%，且未出现室性心动过速。在超过2年的门诊随访期间，他一直无症状。该病例展示了一种使用美西律的新抗心律失常疗法，用于预防不耐受β受体阻滞剂治疗的ATS患者发生危及生命的心脏事件。
