Funding Research and Improving Care and Treatment for Children Born with Congenital Heart Defects

What are Congenital Heart Defects?

Congenital means “present at birth.” A congenital heart defect (CHD), also called congenital heart disease, refers to structural or functional abnormalities of the heart or the great vessels near the heart that develop before birth.

In the United States, CHDs occur in nearly 1% of live births — about 40,000 babies per year. About one-quarter of those have critical congenital heart defects requiring surgery or other intervention in the first year.

It is estimated that over 2 million Americans today are living with CHDs (including both children and adults), though accurate counts especially among adults are limited by the lack of a comprehensive lifelong registry.

There are many recognized types of congenital heart defects, from mild defects that may go undetected for years to severe ones that are life-threatening at birth or in infancy and that require surgery, lifelong care, or transplantation.

What causes Congenital Heart Defects?

As for what causes CHDs: in most cases the cause is not known. Up to one third of CHD cases may have underlying genetic causes when comprehensively evaluated. Only 9-18% can be associated with chromosomal abnormalities. Other risk factors include maternal illnesses (such as diabetes), obesity, smoking during pregnancy, certain infections and medications, but often these are contributing rather than determinative, and many defects likely begin very early in embryonic development when the heart is forming.