Congenital Defects and Disease

Congenital heart disease is a term that describes a number of different conditions caused by abnormal or disordered heart development before birth. Although congenital heart disease, by definition, is present at birth, its effects may not be obvious nor may present for many years.

A congenital heart defect most often occurs as an isolated incidence and is generally not associated with other diseases, there are a few genetic and chromosomal syndromes that can also cause heart defects, including:

• Down syndrome
• Ellis-van Creveld syndrome
• Marfan syndrome
• Noonan syndrome
• Trisomy 13
• Turner's syndrome

Drugs, chemicals, and infections during pregnancy may also cause congenital heart abnormalities. In infants, fetal rubella, maternal alcohol use (fetal alcohol syndrome), and use of retinoic acid (for acne), may also cause of congenital heart disease. In addition, if a pregnant woman has congenital heart disease, she should notify her doctor so her fetus may be checked during the pregnancy.

Treatment

Surgical treatments are tailored to correct the specific congenital abnormality. The most common include closing a patent foramen ovale and/or an atrial septal defect (ASD).