Atrial septal defect risk factors


 * Associate Editor(s)-In-Chief: Priyamvada Singh, M.B.B.S. [mailto:psingh@perfuse.org]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [mailto:kfeeney@perfuse.org]

Overview
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%. ,


 * 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 . These heart defects have been found to be associated with some skeletal abnormalities like Holt-Oram syndrome . 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
 * Genetics
 * Age over 40
 * Alcoholism
 * Diabetes
 * Prenatal nutrition
 * Rubella or other viral illness during pregnancy.


 * Associated conditions: The cause of atrial septal defect is not known. Atrial septal defects are often associated with other malformations such as:
 * Partially anomalous pulmonary venous return
 * Pulmonary valve stenosis
 * Mitral stenosis or mitral valve prolapse
 * Ventricular septal defects
 * Coarctation of the aorta