Genetic Testing for Congenital Heart Disease

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Genetics can play a role in congenital (present at birth) heart disease. If you or your family has a history of congenital heart defects, your risk of having a child born with a heart issue is higher.

It’s common to wonder why a child is born with a congenital heart condition and whether it will happen again in the family. If you have congenital heart disease, you may wonder about the chance of passing it along to your child.

Norton Children’s Heart Institute, affiliated with the UofL School of Medicine, offers genetic testing and counseling before, during and after pregnancy that can provide you with detailed information about the chance of your children having congenital heart disease. Our counselors can give you information and address questions you may have about starting a family.

If you or your family has a history of heart defects, the risk generally increases from about 1% to 3 to 5%. In some rare conditions, the risk is 50% if one parent has the defect.

How Genetic Testing Works

To determine the likelihood that a congenital heart defect will repeat in a family, genetic testing and counseling may involve the following steps:

  • Examining your medical and family history and, when possible, performing a physical exam
  • Genetic testing on a sample of your blood
  • Genetic testing on blood samples from other members of your family, especially if they have a congenital heart defect

Genetic testing and counseling also are useful if others in your family have heart defects or any other kind of birth defect.

Why Choose Norton Children’s Heart Institute

  • Norton Children’s Hospital has been a pioneer in pediatric cardiothoracic surgery, performing Kentucky’s first pediatric heart transplant in 1986 and becoming the second site in the United States to perform an infant heart transplant.
  • The American Board of Thoracic Surgery has certified our cardiothoracic surgeons in congenital heart surgery.
  • The Adult Congenital Heart Association has accredited Norton Children’s Heart Adult Congenital Heart Disease Program as the only comprehensive care center in Kentucky and Indiana treating adults born with a heart defect.
  • More than 5,000 children a year visit Norton Children’s Heart Institute for advanced heart care.
  • Norton Children’s Heart Institute has offices across Kentucky and Southern Indiana to bring quality pediatric heart care closer to home.
  • The Jennifer Lawrence Cardiac Intensive Care Unit (CICU) at Norton Children’s Hospital is the largest dedicated CICU in Kentucky, equipped with 17 private rooms and the newest technology available for heart care.
The Adult Congenital Heart Association has recognized Norton Children's Heart Institute for its expertise treating adult congenital heart disease.

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