Long QT syndrome and associated gene mutation carriers in Japanese children: results from ECG screening examinations
Long QT syndrome and associated gene mutation carriers in Japanese children: results from ECG screening examinations
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DOI：
10.1042/cs20080528
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发表时间：
2009-12-01
期刊：
影响因子：
6
通讯作者：
Yamagishi, Masakazu
中科院分区：
文献类型：
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作者：
Hayashi, Kenshi;Fujino, Noboru;Yamagishi, Masakazu
LQTS(长QT综合征)是由心脏离子通道基因突变引起的，然而LQTS在普通人群中的患病率并不是很清楚。在本研究中，我们前瞻性地估计了LQTS在日本儿童中的患病率，并分析了相关的突变携带者。记录了7961名日本学龄儿童(4044名男性，平均年龄9.9+/-3.0岁)的心电图。对于首次心电图中QTC(校正的QT)间期延长的儿童，再次检查ECG，并手动测量QT间期。根据Schwartzs标准进行LQTS评分，并对离子通道基因进行分析。通过异源表达实验对已鉴定的突变体进行了体外鉴定。三个受试者被分配到LQTS的高概率(3.5
LQTS (long QT syndrome) is caused by mutations in cardiac ion channel genes; however the prevalence of LQTS in the general population is not well known. In the present study, we prospectively estimated the prevalence of LQTS and analysed the associated mutation carriers in Japanese children. ECGs were recorded from 7961 Japanese school children (4044 males; mean age, 9.9 +/- 3.0 years). ECGs were examined again for children who had prolonged QTc (corrected QT) intervals in the initial ECGs, and their QT intervals were measured manually. An LQTS score was determined according to Schwartzs criteria, and ion channel genes were analysed. In vitro characterization of the identified mutants was performed by heterologous expression experiments. Three subjects were assigned to a high probability of LQTS (3.5