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.

Clinics and Practice
|June 26, 2024
PubMed

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.