婴儿长 QT 综合征和心脏畸形的早期筛查:综合研究

IF 1.7 Q2 MEDICINE, GENERAL & INTERNAL
Luana Nosetti, Marco Zaffanello, Carolina Lombardi, Alessandra Gerosa, Giorgio Piacentini, Michele Abramo, Massimo Agosti
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引用次数: 0

摘要

(1) 背景:婴儿猝死综合症(SIDS)是指一岁以下婴儿在睡眠中突然不明原因死亡,尽管进行了彻底调查。为降低婴儿猝死综合症的发病率,应对所有新生儿进行 QTc 间期延长(长 QT 间期综合症 (LQTS) 的标志)筛查。新生儿心电图(ECG)可及早发现先天性心脏缺陷(CHD),尤其是出生时未发现的先天性心脏缺陷。QTc 间期延长的婴儿通常要接受长 QT 综合征基因分析。(2)方法:研究对象为出生 20-40 天、无明显心脏病临床表现、接受初步心电图筛查的婴儿。产前诊断或出生后即发现有先天性心脏病体征/症状的婴儿,以及曾因其他医疗原因接受过心电图或超声心动图检查的婴儿均不在研究范围内。我们使用统计软件(SPSS 22.0 版)对数据进行了分析。(3) 结果:在 42,200 名参与研究的婴儿中,有 2245 名被纳入研究,其中 39.9% 为男性。经过初步筛查,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 名儿童中,有 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,并在 11 项检测中发现了基因突变。最常见的基因突变是 LQT1(54.5%)、LQT2(36.4%)和 LQT3(1 名患者)。治疗方案包括普萘洛尔(39.8%)、纳多洛尔(22.2%)、英得拉(11.1%)、美托洛尔(11.1%)和不治疗(16.7%)。最常见的异常是局灶性右束支传导阻滞(54.5%)、左轴偏离(9.2%)和非特异性心室复极化异常(7.1%)。0.47%的局灶性右束支传导阻滞患儿存在多重异常。有267名患者(11.9%)的结构异常与特定特征有关,其中61.4%主要是孤立性卵圆孔未闭(PFO)。(4) 结论:这种筛查方法在早期识别 LQTS 和其他心律异常方面效果显著,还能额外识别家族成员的基因突变和/或 QTc 间期延长。发现其他心电图异常和先天性心脏畸形可进一步提高筛查效果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study.

(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.

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Clinics and Practice
Clinics and Practice MEDICINE, GENERAL & INTERNAL-
CiteScore
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4.30%
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91
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