Han Hao, Chen Youzhou, Li Songnan, Ren Lan, Zhang Jianqiang, Sun Huayi, Dong Jianzeng, Zhao Xingshan
Department of Cardiology, Beijing Jishuitan Hosptial, No. 31 East Street, Xinjiekou, XiCheng.
Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing.
Medicine (Baltimore). 2020 Oct 16;99(42):e22740. doi: 10.1097/MD.0000000000022740.
Prolonged heart rate-corrected QT (QTc) interval is an independent risk factor for sudden cardiac death, which is the hallmark of Timothy syndrome (TS). There are little data on children with syndactyly and QTc prolongation.To evaluate the characteristics and long-term outcomes in children with syndactyly, and to attempt to identify TS in patients with syndactyly and QTc prolongation.This is a retrospective case-control study of children with syndactyly who visited Beijing Jishuitan Hospital between July 2003 and February 2013. The patients with prolonged QTc intervals are matched 1:4 with patients without prolongation. Genetic testing of the CACNA1C gene is routinely performed in patients with QTc prolongation.The mean age at admission is 3.4 ± 2.3 years. Compared with the normal QTc group, those with QTc prolongation showed higher frequencies of congenital heart disease (11.8% vs 1.5%, P = .042), mental retardation and facial dysmorphia (11.8% vs 0, P = .004), and T wave alternans (23.5% vs 4.4%, P = .01). In the multivariable analysis, only T wave alternans (OR = 10.61, 95%CI: 1.39-81.16, P = .023) is independently associated with QTc prolongation in patients with syndactyly. One child with QTc prolongation had a mutation in the CACNA1C gene. No patients with prolonged QTs interval met the threshold for TS.Children with syndactyly and prolonged QTc interval had more multisystem diseases and electrocardiography abnormalities. T wave alternans is independently associated with QTc prolongation in patients with syndactyly.
心率校正QT（QTc）间期延长是心源性猝死的独立危险因素，而心源性猝死是 Timothy 综合征（TS）的标志。关于并指畸形合并QTc延长儿童的数据很少。评估并指畸形儿童的特征和长期预后，并试图在并指畸形合并QTc延长的患者中识别TS。这是一项对2003年7月至2013年2月间就诊于北京积水潭医院的并指畸形儿童进行的回顾性病例对照研究。QTc间期延长的患者与未延长的患者按1:4进行匹配。对QTc延长的患者常规进行CACNA1C基因的基因检测。入院时的平均年龄为3.4±2.3岁。与正常QTc组相比，QTc延长组先天性心脏病（11.8%对1.5%，P = 0.042）、智力发育迟缓和面型畸形（11.8%对0，P = 0.004）以及T波交替（23.5%对4.4%，P = 0.01）的发生率更高。在多变量分析中，在并指畸形患者中，只有T波交替（OR = 10.61，95%CI：1.39 - 81.16，P = 0.023）与QTc延长独立相关。1例QTc延长的儿童CACNA1C基因发生突变。没有QT间期延长的患者达到TS的阈值。并指畸形合并QTc间期延长的儿童有更多的多系统疾病和心电图异常。T波交替在并指畸形患者中与QTc延长独立相关。
