Oral Session (I-OR09)

[I-OR09-04] Is Andersen-Tawil syndrome a malignant arrhythmic disease? A long-term follow-up study of Japanese ATS patients

^○加藤 浩一¹, 肥後 洋佑¹, 相澤 孝範², 福山 恵¹, 藤居 祐介¹, 牧山 武², 大野 聖子³, 伊藤 英樹⁴, 中川 義久¹, 堀江 稔¹ (1.滋賀医科大学 循環器内科, 2.京都大学 循環器内科, 3.国立循環器病研究センター メディカルゲノムセンター, 4.広島大学 医療安全部)

Keywords:遺伝性不整脈, アンダーセン・タイル症候群, 心臓突然死

Background Andersen-Tawil syndrome (ATS) is a rare arrhythmic disorder associated with pathogenic KCNJ2 variants. The disease phenotype is characterized by its unique triad: anatomical malformation, periodic paralysis, and ventricular arrhythmias. Since a recent report from a European ATS cohort presented a surprisingly high lethal arrhythmic event rate, we aimed to investigate the prognosis of the Japanese ATS cohort.Methods We retrospectively analyzed the prognosis of 62 Japanese ATS patients carrying KCNJ2 variants. The locus of the genetic variants, phenotype variability, and medication were assessed. ResultsTwenty-one (33%) patients were treated with ßblockers, while 17 (27%) were treated with Flecainide. Only 3 (4.7%) were treated with amiodarone while 8.5(%) of patients had a period of amiodarone therapy in the European report. Only 3 (4.8%) experienced the first LAEs since birth to the end of follow-up in the Japanese cohort in contrast to the European report where 17 in 114 (14%) patients experienced lethal arrhythmic events (LAEs). The cumulative survival rate without LAEs from birth to age 60 was 87.9 % in our study. Discussion and ConclusionWe found that Japanese ATS patients had relatively better arrhythmic prognosis when compared with the European cohort. There is a possibility that less amiodarone use and earlier access to medical services were related to the preferable outcome.