Atrial septal defect risk factors
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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]]; Cafer Zorkun, M.D., Ph.D. [3]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [[4]]
Overview
The cause of atrial septal defects is not known. However, it has been found to occur with increased frequencies in patients with Down syndrome, thus suggesting some genetic association. As a parent, if you or a sibling of a child have a congenital heart defect, then you should consider genetic counseling.
Risk factors
Factors that can increase the risk of having atrial septal defects are
Though the causes for atrial septal defects are not clear, some factors have been found to increase the risk for having these conditions.
- Increased familial occurence- Secundum atrial septal defects have been found to occur with increased frequencies in families. 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 has been shown to be located on chromosome 5 [3]. An autosomal dominant inheritance with mutations in the cardiac transcription factor have been found. These heart defects have been found to be associated with some skeletal abnormalities like Holt-Oram syndrome. Both secundum and primum ASDs have been found to be associated with trisomy 21 (Down syndrome).
Some general factors in the mother that may increase the risk of congenital heart diseases include
- Genetics as stated above
- Age over 40
- Alcoholism [4].
- Diabetes
- Prenatal nutrition
- Rubella or other viral illness during pregnancy
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Tikkanen J, Heinonen OP (1992). "Risk factors for atrial septal defect". Eur J Epidemiol. 8 (4): 509–15. PMID 1397217.