Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, Unit of Cardiology, Ankara, Turkey.
Ankara City Hospital, Department of Child Health and Diseases, Unit of Cardiology, Ankara, Turkey.
Eur J Med Genet. 2022 Jun;65(6):104499. doi: 10.1016/j.ejmg.2022.104499. Epub 2022 Apr 14.
Andersen-Tawil syndrome is a rare autosomal dominant genetic or sporadic disorder characterized by periodic paralysis, ventricular arrhythmias and dysmorphic features. Ventricular arrhythmias can include frequent premature ventricular complex, polymorphic ventricular tachycardia, and less frequently bidirectional ventricular tachycardia. Left ventricle function has been reported in only a few individual cases of Andersen-Tawil syndrome. A 14-year-old female patient was referred to our clinic from another center with documented arrhythmia and left ventricular systolic dysfunction. Andersen-Tawil syndrome was suspected and the diagnosis was confirmed after detection of a previously unreported mutation in children. We report the successful use of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy in a case of Andersen-Tawil syndrome associated with a novel mutation.
Andersen-Tawil 综合征是一种罕见的常染色体显性遗传性或散发性疾病，其特征为周期性瘫痪、室性心律失常和畸形特征。室性心律失常可包括频发室性早搏、多形性室性心动过速，以及较少见的双向性室性心动过速。仅有少数 Andersen-Tawil 综合征的个体病例报告了左心室功能。一名 14 岁女性患者因心律失常和左心室收缩功能障碍被转诊到我们的诊所。怀疑为 Andersen-Tawil 综合征，在检测到以前未报道的儿童基因突变后确诊。我们报告了一例新突变相关 Andersen-Tawil 综合征中双向性室性心动过速和心动过速性心肌病成功使用氟卡尼的病例。
