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Published on: January 16, 2019
Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study
Luana Nosetti1, Marco Zaffanello2, Carolina Lombardi3,4
1Pediatric Sleep Disorders Center, Division of Pediatrics, "F. Del Ponte" Hospital, University of Insubria, 21100 Varese, Italy.
Insights
Newborn screening using electrocardiograms (ECGs) effectively identifies infants with prolonged QTc intervals, a marker for Long QT Syndrome (LQTS), and congenital heart defects, aiding in Sudden Infant Death Syndrome (SIDS) prevention.
Area of Science:
- Pediatric Cardiology
- Neonatal Screening
- Genetics
Background:
- Sudden Infant Death Syndrome (SIDS) remains a cause of unexplained infant mortality.
- Prolonged QTc interval, a marker for Long QT Syndrome (LQTS), is a potential SIDS risk factor.
- Neonatal electrocardiograms (ECGs) can detect congenital heart defects (CHDs) not identified at birth.
Purpose of the Study:
- To evaluate the effectiveness of ECG screening in newborns for identifying prolonged QTc intervals and LQTS.
- To assess the utility of ECG screening in detecting other cardiac abnormalities, including CHDs.
- To determine the prevalence of specific LQTS genetic mutations and associated cardiac conditions in the screened population.
Main Methods:
- A cohort of 42,200 infants aged 20-40 days underwent initial ECG screening.
- Infants with pre-existing cardiac diagnoses or symptoms were excluded.
- Data analysis was performed using SPSS version 22.0.
Main Results:
- 2245 infants were enrolled, with 164 identified with prolonged QTc intervals.
- 27 infants were diagnosed with LQTS, and genetic mutations were found in 11 of 18 investigated cases (LQT1, LQT2, LQT3).
- Other ECG abnormalities included focal right bundle branch block (54.5%) and structural anomalies like patent foramen ovale (11.9%).
Conclusions:
- Newborn ECG screening is effective for early detection of LQTS and other cardiac rhythm anomalies.
- The screening approach also identifies other ECG abnormalities and congenital heart malformations.
- This method aids in identifying mutations and potentially affected family members, enhancing overall cardiac care.
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.
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