Nongenetic risk factors and congenital heart defects

Sonali S. Patel, Trudy L. Burns

Research output: Contribution to journalReview articlepeer-review

67 Scopus citations


Advances have been made in identifying genetic etiologies of congenital heart defects. Through this knowledge, preventive strategies have been designed and instituted, and prospective parents are counseled regarding their risk of having an affected child. Great strides have been made in genetic variant identification, and genetic susceptibility to environmental exposures has been hypothesized as an etiology for congenital heart defects. Unfortunately, similar advances in understanding have not been made regarding strategies to prevent nongenetic risk factors. Less information is available regarding the potential adverse effect of modifiable risk factors on the fetal heart. This review summarizes the available literature on these modifiable exposures that may alter the risk for congenital heart disease. Information regarding paternal characteristics and conditions, maternal therapeutic drug exposures, parental nontherapeutic drug exposures, and parental environmental exposures are presented. Factors are presented in terms of risk for congenital heart defects as a group. These factors also are broken down by specific defect type. Although additional investigations are needed in this area, many of the discussed risk factors present an opportunity for prevention of potential disease.

Original languageEnglish (US)
Pages (from-to)1535-1555
Number of pages21
JournalPediatric Cardiology
Issue number7
StatePublished - Oct 2013
Externally publishedYes


  • Congenital
  • Epidemiology
  • Heart defects
  • Heart disease
  • Risk factors

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine


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