Sato Akinori, Takano Toshiki, Chinushi Masaomi, Minamino Tohru
Department of Cardiovascular Biology and Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Graduate School of Health Science, Niigata University School of Medicine, Niigata, Japan.
BMJ Case Rep. 2019 Jul 15;12(7):e229628. doi: 10.1136/bcr-2019-229628.
Andersen-Tawil syndrome (ATS) is an inherited disorder characterised by the triad of ventricular arrhythmias (VAs), periodic paralysis and dysmorphic features. A 31-year-old woman diagnosed with ATS caused by a mutation (p.R228ins) was urgently admitted to our hospital following an episode of syncope during exercise. Electrocardiography revealed frequent premature ventricular complexes and non-sustained ventricular tachycardias (VTs) with pleomorphic QRS patterns. During the intravenous flecainide test (30 mg), the frequent VAs were inhibited completely. After oral flecainide (100 mg) was started, VAs, except for a brief bigeminy, were suppressed during the exercise test. On 24-hour Holter recordings, the VAs decreased from 50 133 to 13 363 beats/day (-73%). Sustained VT and syncope were not observed during a 3-year follow-up period. Intravenous flecainide challenge test may be useful in predicting the efficacy of oral flecainide treatment for patients with ATS.
安德森-塔维尔综合征（ATS）是一种遗传性疾病，其特征为室性心律失常（VAs）、周期性麻痹和畸形特征三联征。一名31岁女性因运动期间晕厥发作被紧急送往我院，她被诊断为因一种突变（p.R228ins）导致的ATS。心电图显示频发室性早搏和多形性QRS波型的非持续性室性心动过速（VTs）。在静脉注射氟卡尼试验（30mg）期间，频发室性心律失常被完全抑制。开始口服氟卡尼（100mg）后，运动试验期间室性心律失常（除短暂的二联律外）被抑制。在24小时动态心电图记录中，室性心律失常从50133次/天降至13363次/天（-73%）。在3年随访期间未观察到持续性室性心动过速和晕厥。静脉注射氟卡尼激发试验可能有助于预测口服氟卡尼治疗ATS患者的疗效。
