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婴儿长QT综合征和心脏异常的早期筛查:一项综合研究。

Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study.

作者信息

Nosetti Luana, Zaffanello Marco, Lombardi Carolina, Gerosa Alessandra, Piacentini Giorgio, Abramo Michele, Agosti Massimo

机构信息

Pediatric Sleep Disorders Center, Division of Pediatrics, "F. Del Ponte" Hospital, University of Insubria, 21100 Varese, Italy.

Department of Surgery, Dentistry, Pediatrics and Gynecology, University of Verona, 37100 Verona, Italy.

出版信息

Clin Pract. 2024 May 31;14(3):1038-1053. doi: 10.3390/clinpract14030082.

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 (54.5%), (36.4%), and (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:婴儿猝死综合征(SIDS)是指1岁以下婴儿在睡眠中突然发生且原因不明的死亡,尽管进行了全面调查。应对所有新生儿进行长QT综合征(LQTS)标志物——QTc间期延长的筛查,以降低SIDS的发生率。新生儿心电图(ECG)可早期识别先天性心脏病(CHD),尤其是那些出生时未被检测出的疾病。QTc间期延长的婴儿通常会接受长QT综合征的基因分析。(2)方法:本研究纳入了20 - 40日龄、出生时无明显心脏病临床体征且进行了初始心电图筛查的婴儿。产前诊断为CHD或出生后立即发现有CHD体征/症状的婴儿,以及因其他医疗原因之前已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 22.0版)分析数据。(3)结果:在纳入的42200名婴儿中,2245名被纳入研究,其中男性占39.9%。经过初始筛查,164名QTc间期延长的儿童(男性占37.8%)接受了进一步评估。在这164名儿童中,27名被确诊为LQTS。然而,最终仅对18名儿童进行了基因突变检测,其中11次检测发现了突变。最常见的突变依次为(54.5%)、(36.4%)和(1例患者)。治疗方案包括普萘洛尔(39.8%)、纳多洛尔(22.2%)、心得安(11.1%)、美托洛尔(11.1%)以及未治疗(16.7%)。最常见的异常为局灶性右束支传导阻滞(54.5%)、电轴左偏(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种异常。267例患者(11.9%)的结构异常与特定特征相关,主要是孤立性卵圆孔未闭(PFO),占61.4%。(4)结论:这种筛查方法已证明在早期识别LQTS和其他心律异常方面有效,还能额外识别家庭成员中的突变和/或QTc间期延长。识别其他心电图异常和先天性心脏畸形进一步提高了筛查的益处。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abfc/11203353/9954de698463/clinpract-14-00082-g001.jpg

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