Congenital heart disease causes


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

Overview
As is common with many congenital related conditions, there are gaps in knowledge regarding the causation of congenital heart disease. Congenital heart disease is multi-factorial in origin, with genetics and environmental factors both playing a role.

Causes
Current knowledge regarding the causes of congenital heart disease is limited. Most research has been based on small studies(<1,000 patients). Congenital heart disease is multi-factorial in origin, with genetics and environmental factors both playing a role.

Genetics
While many genetic syndromes are associated with a congenital heart defect, the obverse is not true and many cases of congenital heart disease are not associated with a genetic defect. Genetic syndromes that are associated with congenital heart defects include , , and. The genetics of congenital heart disease may vary by defect. Other genetic syndromes associated with congenital heart disease include the following:


 * Alagille syndrome
 * DiGeorge syndrome (22q11 deletion syndrome)
 * Down's Syndrome
 * Ellis-van Creveld Syndrome
 * Holt-Oram syndrome
 * Marfan's Syndrome (Aortic aneurysm)
 * Noonan Syndrome (Pulmonic stenosis
 * Trisomy 13
 * Turner's Syndrome (coarctation of the aorta)

Risk factors during pregnancy:

 * Maternal rubella infection has been related to PDA, pulmonic valvular stenosis, and ASD
 * Chronic maternal alcohol abuse is associated with increased risk of VSD)
 * Maternal lupus erythematous is associated with congenital complete heart block
 * Ingestion of thalidomide
 * Isotretinonin
 * Lithium (tricuspid valve anomalies)
 * Alcohol use of the mother
 * Chemotherapeutics
 * Thalidomide
 * Retinoic acid
 * Immunosuppressives
 * Hypoxia (Lack of oxygen)
 * Radiation
 * Rubella