Cardiogenetics program

Cardiogenetics at the Herma Heart Institute

Cardiogenetics is how we find answers as to how the heart forms.  Since the human genome was mapped more than 15 years ago, understanding genetics (innate traits) has led to many advancements in the diagnosis and treatment of children with congenital (present at birth) heart disease. At the Herma Heart Institute, we have the only cardiogenetics program in the region that supports these children and their families.

Our team includes genetic counselors, and other genetics specialists. Alongside cardiologists, surgeons, and other doctors, they work to:

• Find out the genetic causes of many forms of congenital heart disease.
• Diagnose and treat children with congenital heart disease.
• Improve care for our patients.

Why is cardiogenetics important?

Many forms of congenital heart disease are genetic.  This means that a child’s heart was programmed to form differently and the defect is no one’s “fault.” It was not because of something that happened during pregnancy. The cardiogenetics team tries to find out why the child’s heart formed the way it did. We do this by a careful clinical exam as well as through genetic testing.

The benefits of cardiogenetics are:

• Ability to diagnose rare diseases early.
• Risk identification and reduction.
• Personalized care plans from infancy to adulthood.
• Identification of recurrence risk (the chance for future pregnancies to have the same defect).
• Answers for parents who are worried their child’s congenital heart disease was a result of something they did during pregnancy.

We are leading the nation in care and results

Our program has diagnosed more than a third of our patients with the specific genetic cause of their congenital heart disease. This is the highest published rate in the nation. Our program’s high diagnosis rate helps the care team better treat the child and support the family.

For our patients without answers, we continue researching and collecting data. Our goal is to increase our ability to diagnose and treat the most serious heart problems.

Several hospitals nationwide have adopted our genetic testing methods. We freely share with them so that everyone can do what’s best for kids, no matter where they live.

Who sees the cardiogenetics team?

All patients seen at the Herma Heart Institute for major congenital heart disease (needing heart surgery within the first year of life) are seen by our cardiogenetics team.

We get referrals for many other types of patients.  This includes patients with heart failure and vascular defects. Cardiologists can refer any patient for a cardiogenetics evaluation.

Since our clinic started in 2015, over 350 patients have been served by our program.

What can you expect from the cardiogenetics program?

Our comprehensive care includes:

• Genetic testing. Testing is done from a simple blood draw.It is usually one that has already been requested for another purpose.
• Family meetings. At the first meeting with your family, we will get a full family history and share of results of the genetic testing.
• Team collaboration. Our cardiogeneticist works with other Herma Heart Institute specialists to share information on your child’s diagnosis to give individualized care.
• Six month follow-up. This meeting with your family and the cardiogeneticist is part of your child’s developmental outcomes appointment.It will happen at six months of age or shortly after leaving the hospital for older children.
• Letter or phone call of results. A written report on the genetic results and recommendations is given to your family.
• Other follow-up as needed. Our cardiogeneticist is always on call. They can be reached by email or phone to answer questions or discuss your child’s case.

Our team includes:

• A cardiogeneticist, who examines checks your child, looks at family history, decides what genetic testing to request, and reviews results to help identify known diseases.
  • Our cardiogeneticist also participates in research into the causes of congenital heart disease. If you agree to research with your child’s genetic information, it can be used to help find new causes and treatments. You do not need to consent to research to be seen by the Cardiogenetics Program.
• Genetic counselors, who will educate and support you as you make decisions about your child’s health.
• Other genetics specialists, who have other expertise for your child’s case.This includes heart problems and other issues.

How do I see a cardiogeneticist?

If your baby has a major congenital heart disease, they will be seen by our cardiogenetics team while staying in the hospital.

Any parent of a child with congenital heart disease can request an outpatient cardiogenetics evaluation. Talk with your child’s cardiologist and ask for a referral to the Cardiogenetics Program.

We also offer a monthly outpatient clinic. To schedule an appointment, call Central Scheduling at (414) 607-5280.