Atrial septal defect risk factors

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Ostium Secundum Atrial Septal Defect
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.B.B.S. [2]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [3]


As is common with most congenital heart conditions, the exact cause of atrial septal defect is not known. Research suggests a potential link between genetic conditions such as Down syndrome and the development of an atrial septal defect. Other potential causes include exposure to environmental contaminants such as rubella as well as alcohol consumption. A clinician should encourage families with a history of congenital heart defect to consider genetic counseling to identify potential risks.

Risk Factors

Although the cause(s) of atrial septal defects are not known, some factors have been found associated with an increased risk of developing an atrial septal defect:

  • Increased familial occurrence: Secundum atrial septal defects have been found to occur with an increased frequency among members of a family. In a study done by Whittemore et al. the risk of having congenital heart disease in a child born to a mother with congenital heart disease has been found to somewhere between 8% to 10%.[1][2]
  • Genetics: In some studies the genes responsible for atrial septal defects have been shown to be located on chromosome 5. Researchers have observed that an autosomal dominant inheritance with mutations occur within the cardiac transcription factor[3]. These heart defects have been found to be associated with some skeletal abnormalities like Holt-Oram syndrome [4]. Additionally, both secundum and primum ASDs have been found to be associated with trisomy 21 (Down syndrome)
  • Maternal health: Some general factors in the mother that may increase the risk of congenital heart diseases include
  • Associated conditions: The cause of atrial septal defect is not known. Atrial septal defects are often associated with other malformations such as:


  1. Whittemore R, Wells JA, Castellsague X (1994). "A second-generation study of 427 probands with congenital heart defects and their 837 children". J Am Coll Cardiol. 23 (6): 1459–67. PMID 8176107.
  2. Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, McDonough B; et al. (1998). "Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects". Circulation. 97 (20): 2043–8. PMID 9610535.
  3. Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP; et al. (1998). "Congenital heart disease caused by mutations in the transcription factor NKX2-5". Science. 281 (5373): 108–11. PMID 9651244.
  4. HOLT M, ORAM S (1960). "Familial heart disease with skeletal malformations". Br Heart J. 22: 236–42. PMC 1017650. PMID 14402857.
  5. 5.0 5.1 Tikkanen J, Heinonen OP (1992). "Risk factors for atrial septal defect". Eur J Epidemiol. 8 (4): 509–15. PMID 1397217.

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