Understanding Congenital Heart Defects

Up to 2.4 million Americans alive today have some form of congenital heart defect. This means they were born with heart disease. Of these people, about 1 million are children and 1.4 million are adults. In the United States, about 40,000 children are born with heart disease each year.

Causes of CHD

• Unknown cause:

  We don’t know the exact cause of most congenital heart issues. Although the reason they occur is thought to be genetic, only a few genes have been linked to the presence of heart conditions. CHDs are likely due to a combination of genetic and environmental factors.

• Genetic syndrome:

  Some people born with heart disease can have a specific genetic condition that can include other health problems.  The chance for their child to also have this condition can be as high as 50 percent. These conditions can vary in how severe they are, so children may have less serious or more serious health problems than their parents. Learn more about genetic counseling.

• Single gene:

  Rarely, CHD is caused by changes in a single gene. Often when this is the case more than one person in the family has had heart disease. The chance for another family member to have it can be as high as 50 percent.

• Environmental exposure:

  In some cases, CHD can also be caused by something the mother was exposed to in her pregnancy, such as an infection or a drug.

Screening for infants

Critical Congenital Heart Disease accounts for 25% of infant deaths that are caused by congenital heart disease. Early detection is key.

Pulse oximetry screening is a low-cost, effective, and painless test for newborns that can be done in just a few minutes. This screening shines a light through the baby’s skin to measure the amount of oxygen in the blood.

The American Heart Association encourages all families to ask for a pulse oximetry screening for their newborns.