Congenital heart disease causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Priyamvada Singh, MBBS [2] Assistant Editor-In-Chief: Kristin Feeney, B.S. [3]

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 about 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 playing a vital role in the causation of it.

Potential identified factors include:

• Genetics: Many genetic conditions and syndromes are associated with congenital heart disease, such as DiGeorge syndrome (22q11 deletion syndrome), Holt-Oram syndrome, and Alagille syndrome. However, the large majority of those born with congenital heart disease do not have genetic syndromes. Existing research suggests that the genetics of congenital heart disease may vary by defect, with reported recurrences rates varying from 0% in transposition of the great arteries to 7.8% in atrioventricular septal defects. Overall total risk has been estimated at approximately 5%, but it is clear that more research is needed to further illuminate causation in congenital heart disease.

• Risk factors during pregnancy:
  • Maternal rubella infection (PDA, pulmonic valvular stenosis, ASD)
  • Chronic maternal alcohol abuse (VSD)
  • Maternal lupus erythematous (congenital complete heart block)
  • Ingestion of thalidomide
  • Isotretinonin
  • Lithium (tricuspid valve anomalies)

Sources

1. The ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities
2. “The Heart Chest.” Non-profit Organization.
3. “Congenital Heart Disease.” Clinical Reference Systems. McKesson Health Solutions LLC , 2004. pg 783. Health Reference Center-Academic. Accessed: 20 Feb. 2006.
4. Jacob, Dawn A. “Patent Ductus Arteriosus.” Gale Encyclopedia of Medicine. 2001. Health Reference Center-Academic . Accessed: 20 Feb. 2006.
5. Knopper, Melissa, and Teresa G Odle. “Congenital Heart Disease.” Gale Encyclopedia of Medicine. 2004. Health Reference Center-Academic . 20 Feb. 2006.
6. Washington, Reginald L. “Hypoplastic Left Heart Syndrome.” Clinical Reference Systems. McKesson Health Solutions LLC , 2004. p 1724. Health Reference Center-Academic. Accessed: 20 Feb. 2006.