Ozawa Junichi, Ohno Seiko, Hisamatsu Takashi, Itoh Hideki, Makiyama Takeru, Suzuki Hiroshi, Saitoh Akihiko, Horie Minoru
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science.
Circ J. 2016;80(3):696-702. doi: 10.1253/circj.CJ-15-0933. Epub 2016 Jan 26.
In children with long QT syndrome (LQTS), risk factors for cardiac events have been reported, but age-, gender- and genotype-related differences in prognosis remain unknown in Asian countries.
The study examined clinical prognosis at age between 1 and 20 years in 496 LQTS patients who were genotyped as either of LQT1-3 (male, n=206). Heterozygous mutations were observed in 3 major responsible genes:KCNQ1in271,KCNH2in 192, andSCN5Ain 33 patients. LQTS-associated events were classified into 3 categories: (1) syncope (n=133); (2) repetitive torsade de pointes (TdP, n=3); and (3) cardiopulmonary arrest (CPA, n=4). The risk of cardiac events was significantly lower in LQT1 girls than boys≤12 years (HR, 0.55), whereas LQT2 female patients ≥13 years had the higher risk of cardiac events than male patients (HR, 4.60). Patients in the repetitive TdP or CPA group included 1 LQT1 female patient, 1 LQT2 male patient, and 5 LQT2 female patients. All LQT2 patients in these groups had TdP repeatedly immediately after the antecedent event. In addition, all 5 female LQT2 patients in these groups had the event after or near puberty.
Female LQT2 children might have repeated TdP shortly after prior events, especially after puberty. (Circ J 2016; 80: 696-702).
在长QT综合征（LQTS）患儿中，已有心脏事件风险因素的报道，但在亚洲国家，预后的年龄、性别和基因型相关差异仍不明确。
本研究调查了496例基因分型为LQT1 - 3的LQTS患者（男性，n = 206）1至20岁的临床预后。在3个主要致病基因中观察到杂合突变：271例患者的KCNQ1、192例患者的KCNH2和33例患者的SCN5A。LQTS相关事件分为3类：（1）晕厥（n = 133）；（2）反复尖端扭转型室速（TdP，n = 3）；（3）心肺骤停（CPA，n = 4）。≤12岁的LQT1女孩发生心脏事件的风险显著低于男孩（HR，0.55），而≥13岁的LQT2女性患者发生心脏事件的风险高于男性患者（HR，4.60）。反复TdP或CPA组的患者包括1例LQT1女性患者、1例LQT2男性患者和5例LQT2女性患者。这些组中的所有LQT2患者在前驱事件后立即反复发生TdP。此外，这些组中的所有5例LQT2女性患者在青春期后或接近青春期时发生了该事件。
女性LQT2儿童在前驱事件后不久，尤其是青春期后，可能会反复发生TdP。（《循环杂志》2016年；80：696 - 702）
