Yiwei Li, Peiwen Gong, Tiewei Lv, Huichao Sun
Department of Cardiology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Children's Vital Organ Development and Diseases of Chongqing Health Commission, National Clinical Key Cardiovascular Specialty, Children's Hospital of Chongqing Medical University, Chongqing, China.
Front Pediatr. 2025 Apr 17;13:1571495. doi: 10.3389/fped.2025.1571495. eCollection 2025.
To elucidate the genetic and clinical characteristics of children diagnosed with long QT syndrome (LQTS) at our institution.
This was a retrospective study. Clinical data and gene detection results of 15 cases diagnosed with congenital LQTS at our center from January 1, 2018 to December 30, 2023 were collected and analyzed using independent sample -test and Levene's test for equality of variances.
The 15 LQTS cases included 7 females and 8 males. The mean age of onset for females (11.83 ± 3.48 years) was later than that for males (8.06 ± 2.50 years), and the mean QTc value for females (564.57 ± 20.72 ms) was higher than that for males (502. 25 ± 48.62 ms), both differences were statistically significant ( < 0.05). Intense exercise and psychological stress are the most common predisposing factors in these cases. Gene mutations were found in 14 of the 15 cases and most mutations (13/14) were inherited from parents. According to the mutation sites, the most common mutation type was missense mutations (11/15). One genetically exclusive case with a Schwartz score of 4 was clinically diagnosed with LQTS after excluding other diseases.
In this cohort, age of onset and QTc value are different between male and female. The most common primary symptom of LQTS is syncope. Most LQTS patients have a mutated gene inherited from their parents, and the most common pathogenic gene is .
阐明在我院诊断为长QT综合征（LQTS）的儿童的遗传和临床特征。
这是一项回顾性研究。收集了2018年1月1日至2023年12月30日在我院中心诊断为先天性LQTS的15例患者的临床资料和基因检测结果，并采用独立样本t检验和Levene方差齐性检验进行分析。
15例LQTS患者中，女性7例，男性8例。女性的平均发病年龄（11.83±3.48岁）晚于男性（8.06±2.50岁），女性的平均QTc值（564.57±20.72毫秒）高于男性（502.25±48.62毫秒），差异均有统计学意义（P<0.05）。剧烈运动和心理压力是这些病例中最常见的诱发因素。15例中有14例发现基因突变，大多数突变（13/14）是从父母遗传而来。根据突变位点，最常见的突变类型是错义突变（11/15）。1例Schwartz评分为4的基因独特病例在排除其他疾病后临床诊断为LQTS。
在该队列中，男性和女性的发病年龄和QTc值不同。LQTS最常见的主要症状是晕厥。大多数LQTS患者有从父母遗传而来的突变基因，最常见的致病基因是 。 （注：原文此处“最常见的致病基因是.”表述不完整）
