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 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

No other congenital heart surgery program in Kentucky, Ohio or Southern Indiana is rated higher by the Society of Thoracic Surgeons than the Norton Children’s Heart Institute Pediatric Cardiothoracic Surgery Program.

  • 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.
  • Our board-certified and fellowship-trained pediatric cardiovascular surgeons are leaders in the field as clinicians and researchers.
  • More than 5,000 children a year visit Norton Children’s Heart Institute, affiliated with the UofL School of Medicine, for advanced heart care.
  • Norton Children’s Heart Institute successfully performs more than 17,500 procedures a year.
  • The Society of Thoracic Surgeons rated Norton Children’s Heart Institute among the best in the region after studying years of our patients’ outcomes and our ability to treat a range of pediatric heart conditions, including the most severe.
  • Norton Children’s Heart Institute has satellite outpatient offices in Ashland, Bowling Green, Campbellsville, Elizabethtown, Frankfort, London, Madisonville, Murray, Owensboro, Paducah and Shepherdsville in Kentucky; as well as Corydon, Jasper, Madison and Scottsburg in Indiana; 28 tele-echocardiography locations in Kentucky and Southern Indiana; and six fetal echocardiography locations across Kentucky.
  • The American Board of Thoracic Surgery has awarded the cardiothoracic surgeons at Norton Children’s Hospital with subspecialty certification in congenital heart surgery.
  • The Jennifer Lawrence Cardiac Intensive Care Unit (CICU) is the largest dedicated CICU in Kentucky, equipped with 17 private rooms and the newest technology available for heart care.
  • Our multidisciplinary approach to pediatric heart surgery brings together our specialists in cardiothoracic surgery, cardiology, anesthesiology, cardiac critical care and other areas to create a complete care plan tailored for your child.
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Norton Children’s Heart Institute

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