||Pediatric cohort with long QT syndrome : KCNH2 mutation carriers present late onset but severe symptoms.
小児QT延長症候群 : KCNH2変異保持者の発症は遅いが重症である
Ozawa, Junichi小澤, 淳一
学位の種類: 博士（医学）. 報告番号: 甲第4276号. 学位記番号: 新大院博（医）甲第.754号. 学位授与年月日: 平成29年3月23日
Circulation Journal 2016; 80(3): 696–702
Background: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.Methods and Results: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.Conclusions:Female LQT2 children might have repeated TdP shortly after prior events, especially after puberty