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
Increased incidences of secundum atrial septal defect has been found to occur 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]
In some studies it has been shown to be associated with chromosome 5. An autosomal dominant inheritance with mutations in the cardiac transcription factor could be there. Atrial septal defects have been found to be associated with some skeletal abnormalities like Holt-Oram syndrome. Both secundum and primum ASDs are associated with trisomy 21 (Down syndrome).
Factors in the mother that may increase the risk of this condition include
- Generally, atrial septal defect is not known to be associated with any specific single gene defect, but some studies have shown possible genetic association in some cases, involving downs syndrome and deletions of chromosome 22q11.
- Age over 40
- Alcoholism [2].
- 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.
- ↑ Tikkanen J, Heinonen OP (1992). "Risk factors for atrial septal defect". Eur J Epidemiol. 8 (4): 509–15. PMID 1397217.