Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

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

Version 1 : Received: 18 February 2024 / Approved: 19 February 2024 / Online: 19 February 2024 (08:22:38 CET)

How to cite: Nosetti, L.; Zaffanello, M.; Lombardi, C.; Gerosa, A.; Piacentini, G.; Michele, A.; Agosti, M. Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study. Preprints 2024, 2024021025. https://doi.org/10.20944/preprints202402.1025.v1 Nosetti, L.; Zaffanello, M.; Lombardi, C.; Gerosa, A.; Piacentini, G.; Michele, A.; Agosti, M. Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study. Preprints 2024, 2024021025. https://doi.org/10.20944/preprints202402.1025.v1

Abstract

(1) Background: Sudden Infant Death Syndrome (SIDS) represents unexplained and sudden deaths during the sleep of infants under one year of age, despite thorough investigation. Screening for prolonged QTc or Long QT Syndrome (LQTS) should be conducted on all newborns to reduce the incidence of SIDS. Neonatal electrocardiogram (ECG) could identify congenital heart defects (CHD) early, especially those not detected at birth. Infants with prolonged QT intervals typically undergo genetic analysis for Long QT Syndrome; (2) Methods: The study involved infants aged 20-40 days, born clinically healthy, with initial ECG screening. Infants with prenatal diagnoses or signs/symptoms of CHD identified immediately after birth, as well as those who underwent ECG or echocardiogram for other clinical or historical indications, were excluded from the study. The data were analyzed using SPSS version 22.0; (3) Results: Of the 42,200 infants involved, 2,245 were enrolled, with 39.9% being males. Subsequently, 164 children (37.8% males) with prolonged QT intervals underwent further diagnostic investigations. Genetic mutations were identified in 11 out of 18 tested children. The most common mutations were LQT1 (54.5%), LQT2 (36.4%), and LQT3 (1 patient). Medications used 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: The screening has proven effective in early diagnosing Long QT Syndrome and other cardiac rhythm anomalies, with additional benefits in detecting mutations and/or QTc prolongations in family members. Identifying other ECG abnormalities and congenital heart malformations further enhances the benefits of the screening.

Keywords

children; congenital heart disease; Electrocardiogram; Infant; long QT syndrome; neonatal screening; sudden infant death syndrome.

Subject

Medicine and Pharmacology, Pediatrics, Perinatology and Child Health

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