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Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
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Effect of Concomitant Birth Defects and Genetic Anomalies on Infant Mortality in Tetralogy of Fallot

Eric G Jernigan1, Paula D Strassle2,3, Rebecca C Stebbins2

  • 1University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Birth Defects Research
|June 20, 2017
PubMed

Insights

Infants with Tetralogy of Fallot (TOF) and additional birth defects or chromosomal anomalies face higher mortality risks. Identifying these factors is crucial for improving infant survival rates.

Area of Science:

  • Pediatric Cardiology
  • Medical Genetics
  • Public Health

Background:

  • Tetralogy of Fallot (TOF) is a congenital heart defect with significant infant mortality.
  • Understanding associated extracardiac malformations and chromosomal anomalies is key to improving outcomes.

Purpose of the Study:

  • To investigate the impact of concomitant birth defects and chromosomal anomalies on 1-year mortality in infants with TOF.
  • To identify specific birth defects that increase mortality risk in TOF infants.

Main Methods:

  • Analysis of North Carolina Birth Defects Monitoring Program data (2003-2012).
  • Kaplan-Meier survival analysis and multivariable logistic regression.
  • Stratification by number of extracardiac birth defect systems and presence of chromosomal anomalies.

Main Results:

  • 15% of 496 infants with TOF died within 1 year.
  • Increased number of extracardiac birth defect systems significantly correlated with higher mortality (p < 0.0001).
  • Concomitant eye (OR 2.83) and gastrointestinal defects (OR 4.43), trisomy 13, and trisomy 18 were associated with increased mortality.

Conclusions:

  • Concomitant birth defects and genetic anomalies are significant risk factors for mortality in infants with TOF.
  • Further research is needed to identify genetic and socioeconomic factors in high-risk TOF infants.
Abstract

Keywords:
Tetralogy of Fallotcongenital heart diseaseconotruncal defectsgenetic anomaliesinfant mortalitysurvival analysis

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