Genetic testing for congenital heart disease

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 a congenital heart disease, you may wonder about the chances of passing it along to your child.

Norton Children’s Heart Institute, affiliated with the University of Louisville, offers genetic testing and counseling before, during and after pregnancy that can provide you with detailed information about the chances 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 percent to 3 to 5 percent. In some rare conditions, the risk is 50 percent 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 is useful if others in your family have heart defects or any other kind of birth defect.

Why Norton Children’s Heart Institute?

Norton Children’s Heart Institute, affiliated with the University of Louisville, is a comprehensive pediatric heart surgery, heart failure and heart transplant program serving Kentucky, Southern Indiana and beyond.

The goal of the full-service Norton Children’s Heart Institute is to provide care for the child and the whole family. Our specialists are prepared to repair even the most complex congenital and acquired heart conditions.

Our heart team includes:

  • Pediatric cardiothoracic surgeons
  • Pediatric transplant surgeons
  • Pediatric cardiologists
    • Fetal cardiologists
    • Adult congenital heart cardiologists
    • Heart failure/heart transplant cardiologists
    • Pediatric electrophysiologists
    • Pediatric cardiac catheterization cardiologists
  • Pediatric cardiovascular anesthesiologists
  • Pediatric intensive care physicians
  • Cardiac critical care nurses
  • Critical care pharmacists
  • Family support team
  • Child life specialists
  • Rehabilitation specialists
  • Social workers
Heart – 2929

Norton Children’s Heart Institute

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(502) 629-2929

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