PDF(Pubmed)
Abstract：
(1) Background: Sudden Infant Death Syndrome (SIDS) represents sudden and unexplained deaths during the sleep of infants under one year of age, despite thorough investigation. Screening for a prolonged QTc interval, a marker for Long QT Syndrome (LQTS), should be conducted on all newborns to reduce the incidence of SIDS. Neonatal electrocardiograms (ECGs) could identify congenital heart defects (CHDs) early, especially those not detected at birth. Infants with prolonged QTc intervals typically undergo genetic analysis for Long QT Syndrome. (2) Methods: The study involved infants aged 20-40 days, born with no apparent clinical signs of heart disease, with initial ECG screening. Infants with prenatal diagnoses or signs/symptoms of CHDs identified immediately after birth, as well as infants who had previously had an ECG or echocardiogram for other medical reasons, were excluded from the study. We used statistical software (SPSS version 22.0) to analyze the data. (3) Results: Of the 42,200 infants involved, 2245 were enrolled, with 39.9% being males. Following this initial screening, 164 children (37.8% males) with prolonged QTc intervals underwent further evaluation. Out of these 164 children, 27 children were confirmed to have LQTS. However, only 18 children were finally investigated for genetic mutations, and mutations were identified in 11 tests. The most common mutations were LQT1 (54.5%), LQT2 (36.4%), and LQT3 (1 patient). Treatment options included propranolol (39.8%), nadolol (22.2%), inderal (11.1%), metoprolol (11.1%), and no treatment (16.7%). The most common abnormalities were focal right bundle branch block (54.5%), left axis deviation (9.2%), and nonspecific ventricular repolarization abnormalities (7.1%). Multiple anomalies were found in 0.47% of children with focal right bundle branch block. Structural abnormalities were associated with specific features in 267 patients (11.9%), primarily isolated patent foramen ovale (PFO) at 61.4%. (4) Conclusions: This screening approach has demonstrated effectiveness in the early identification of LQTS and other cardiac rhythm anomalies, with additional identification of mutations and/or prolonged QTc intervals in family members. Identifying other ECG abnormalities and congenital heart malformations further enhances the benefits of the screening.
摘要：
（1）背景：婴儿猝死综合症（SIDS）代表一岁以下婴儿在睡眠期间突然和无法解释的死亡，尽管进行了彻底的调查。筛查延长的QTc间期，长QT综合征（LQTS）的标志，应该对所有新生儿进行，以减少SIDS的发生率。新生儿心电图（ECG）可以早期识别先天性心脏病（CHD），尤其是那些出生时没有发现的。QTc间期延长的婴儿通常进行长QT综合征的遗传分析。(2)研究方法:研究对象为20-40天婴儿,出生时没有明显的心脏病临床症状，最初的心电图筛查。出生后立即发现产前诊断或CHD体征/症状的婴儿，以及以前因其他医疗原因进行过心电图或超声心动图检查的婴儿，被排除在研究之外。我们使用统计软件（SPSS版本22.0）对数据进行分析。（3）结果：在涉及的42,200名婴儿中，2245人报名参加，男性占39.9%。经过初步筛选,164名QTc间期延长的儿童（37.8％为男性）接受了进一步评估。在这164个孩子中，27名儿童被证实患有LQTS。然而,最终只有18名儿童接受了基因突变调查，在11项测试中发现了突变。最常见的突变是LQT1（54.5％），LQT2（36.4%），和LQT3（1名患者）。治疗选择包括普萘洛尔（39.8%），纳多洛尔（22.2%），国内(11.1%)，美托洛尔（11.1%），未治疗（16.7%）。最常见的异常是局灶性右束支传导阻滞（54.5%），左轴偏差(9.2%)，和非特异性心室复极异常（7.1％）。在0.47％的局灶性右束支传导阻滞儿童中发现了多个异常。在267例患者中，结构异常与特定特征相关（11.9%），主要是孤立的卵圆孔未闭（PFO）占61.4％。（4）结论：这种筛查方法在早期识别LQTS和其他心律异常方面具有有效性，进一步鉴定家族成员中的突变和/或延长的QTc间隔。识别其他ECG异常和先天性心脏畸形进一步增强了筛查的益处。
