Environmental exposure to per- and polyfluoroalkyl substances and childhood congenital heart disease: a mixed

Xianting Jiao1, Liqing Zhao2, Yuejuan Xu2

  • 1Department of Pediatric Infectious, Department of Pediatric Cardiology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Frontiers in Public Health
|December 15, 2025
PubMed

Insights

Per- and polyfluoroalkyl substances (PFAS) exposure is linked to increased congenital heart disease (CHD) risk in children. Specific PFAS like Perfluorobutanoic acid (PFBA) and Perfluorohexanoic acid (PFHxA) were significant contributors.

Area of Science:

  • Environmental Health
  • Toxicology
  • Pediatric Cardiology

Background:

  • Per- and polyfluoroalkyl substances (PFAS) are ubiquitous environmental contaminants linked to various adverse health outcomes.
  • Limited research has investigated the association between PFAS exposure and congenital heart disease (CHD) in children.

Purpose of the Study:

  • To investigate the relationship between exposure to specific per- and polyfluoroalkyl substances (PFAS) and the risk of congenital heart disease (CHD) in children.
  • To analyze the impact of individual PFAS compounds and their mixtures on CHD risk using advanced statistical models.

Main Methods:

  • A hospital-based case-control study involving 282 children with CHD and 282 controls.
  • Plasma samples analyzed for 19 PFAS congeners using logistic regression, Bayesian kernel-machine regression (BKMR), and weighted quantile sum (WQS) models.
  • Mixed analysis approach to assess associations between individual PFAS, PFAS mixtures, and CHD risk.

Main Results:

  • Elevated plasma concentrations of multiple PFAS compounds were observed in children with CHD compared to controls.
  • Significant associations were found between CHD risk and specific PFAS, including Perfluorobutanoic acid (PFBA), Perfluorohexanoic acid (PFHxA), and others.
  • BKMR and WQS analyses identified PFBA, 8:2 Cl-PFESA, PFHxA, and Perfluorotetradecanoic acid (PFTeDA) as key contributors to CHD risk from PFAS mixtures.

Conclusions:

  • PFAS mixture exposure is associated with an increased risk of congenital heart disease (CHD) in pediatric populations.
  • Specific PFAS, including 6:2 Chlorinated polyfluoroalkyl ether sulfonic acid (6:2 Cl-PFESA), 8:2 Cl-PFESA, PFBA, PFHxA, and PFTeDA, play significant roles in this association.
Abstract