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Noninherited Risk Factors and Congenital Cardiovascular Defects: Current Knowledge: A Scientific Statement From the American Heart Association Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics
Abstract
Prevention of congenital cardiovascular defects has been hampered by a lack of information about modifiable risk factors for abnormalities in cardiac development. Over the past decade, there have been major breakthroughs in the understanding of inherited causes of congenital heart disease, including the identification of specific genetic abnormalities for some types of malformations. Although relatively less information has been available on noninherited modifiable factors that may have an adverse effect on the fetal heart, there is a growing body of epidemiological literature on this topic. This statement summarizes the currently available literature on potential fetal exposures that might alter risk for cardiovascular defects. Information is summarized for periconceptional multivitamin or folic acid intake, which may reduce the risk of cardiac disease in the fetus, and for additional types of potential exposures that may increase the risk, including maternal illnesses, maternal therapeutic and nontherapeutic drug exposures, environmental exposures, and paternal exposures. Information is highlighted regarding definitive risk factors such as maternal rubella; phenylketonuria; pregestational diabetes; exposure to thalidomide, vitamin A cogeners, or retinoids; and indomethacin tocolysis. Caveats regarding interpretation of possible exposure-outcome relationships from case-control studies are given because this type of study has provided most of the available information. Guidelines for prospective parents that could reduce the likelihood that their child will have a major cardiac malformation are given. Issues related to pregnancy monitoring are discussed. Knowledge gaps and future sources of new information on risk factors are described.
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“No clear association has been found in humans between moderate doses of caffeine ingestion during pregnancy and birth defects, including congenital heart disease (132).”
From The Safety of Ingested Caffeine: A Comprehensive Review (2017) · cites this paper as [132]
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Metadata
- Authors
- Jenkins, K. J., Correa, A., Feinstein, J. A., Botto, L., Britt, A. E., Daniels, S. R., Elixson, M., Warnes, C. A., & Webb, C. L.
- Affiliations
- Boston Children's Hospital (US)
- ORCID
- Venue
- Circulation
- Published
- 2007-06-12
- Volume
- 115
- Issue
- 23
- Pages
- 2995-3014
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2617245041
- Cited by
- 818
- References
- 232
- Citations by year
- 2026: 21 · 2025: 26 · 2024: 50 · 2023: 42 · 2022: 52 · 2021: 42 · 2020: 50 · 2019: 48 · 2018: 52 · 2017: 38 · 2016: 43 · 2015: 61 · 2014: 55 · 2013: 52 · 2012: 48
- FWCI
- 3.84
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Circulation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Congenital Heart Disease Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Substance Exposure Effects
- Keywords
- congenital heart disease, modifiable risk factors, fetal heart development, periconceptional folic acid supplementation, maternal rubella infection, phenylketonuria, pregestational diabetes, thalidomide, retinoids, prenatal drug exposure, environmental exposure, paternal exposure, pregnancy monitoring
- MeSH terms
- Female, Fetal Diseases, Heart Defects, Congenital, Humans, Pregnancy, Risk Factors, Cardiovascular Abnormalities, Maternal Exposure, Dietary Supplements
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