Cardiovascular Genetics Program
When heart disease runs in your family, it’s normal to want to know more about your risk. Most heart disease does have a genetic component. And knowing your child is at risk can help you figure out what steps to take to prevent it.
At UVA Health Children’s, our cardiovascular genetics experts can help. They meet regularly and work together on specific children’s heart genetic conditions. As the first group of its kind in the state, we’ve helped patients with genetic heart diseases and their families for years.
With the support of UVA Health’s Heart & Vascular Center, we can offer diagnosis and preventative treatment.
Testing for Inherited Heart Disease at UVA Health Children’s
Come prepared to share your family history of heart disease. We try to collect 3 generations' worth of data (for testing for your child, we would want to know about you and your parents).
Your responses help us narrow down what testing your child needs.
Genetic testing is usually done by taking a sample with either a cheek (buccal) swab or a blood draw.
Once a sample has been collected, the lab looks at markers on individual genes known to be associated with heart disease. Once we have your results, we’ll contact you to discuss them.
What Does a Positive Test Mean for My Family?
It can be hard to hear that your child has a positive test for a genetic condition. But finding out they have a condition before symptoms start is the best possible time to find out.
Depending on your child’s condition, there are options for prevention and care.
Prevention
Many heart conditions have triggers that cause symptoms to emerge. Heat and dehydration are 2 common ones.
Knowing about these triggers in advance can help your family avoid them.
Screenings
While heart screenings aren’t a normal part of a child’s physical exam, they’re an easy item to include. Yearly heart stress tests help us spot any symptoms or signs early. And tests like electrocardiograms (ECGs, which let us see electric signals in the heart) can help us know if your child can safely play sports or participate in other activities.
Doing additional lab work can also help us keep your child healthy.
Medication
Some conditions can be treated with medications. For example, we treat many irregular heartbeats with a medicine that helps them stay in rhythm.
Surgery
Surgery is the rarest outcome of a positive genetic screening. But, in some cases, surgery is the best option. That's especially true if there have already been heart events. Fortunately, your child will be supported by one of the best pediatric cardiology programs in the country. Our pediatric heart surgeons can perform even the most complex procedures on even the tiniest of hearts. All with better than average outcomes.
Conditions We Test For
- Long QT syndrome
- Brugada syndrome
- Wolff-Parkinson-White syndrome
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- Restrictive cardiomyopathy
- Danon disease
- Connective tissue disorders
- Timothy syndrome
- 22q11.2 deletion syndrome
From Terror to Answers
When a personal trainer's heart stopped and required CPR, he and his family wanted answers. With genetic testing, they found out that he had Brugada syndrome, a dangerous arrhythmia.
Read About Their Family JourneyHeart Genetic Testing FAQs
There are many reasons why families choose to get genetic testing for inherited heart conditions. Ultimately, it’s a personal decision. Your child’s genetic counselor will help you with specific questions, but here are a few that come up frequently.
My child has the gene for an inheritable heart condition, does that mean they can’t play sports?
Not usually. Many kids with inheritable heart conditions go on to play competitively in sports. But we may suggest additional heart tests before each season.
Sometimes, a positive genetic screening and heart testing will show that your child can’t play certain sports. We’ll work with your family to find safe ways for your child to stay active.
My child has a variant of unknown significance. What is that and should I be worried?
Variants of unknown significance (VUS) are just that…unknown. We don’t know whether or not they’re associated with any illness. Sometimes we find out, and if we do, your family will be contacted.
Dealing with a VUS is one area where it’s especially helpful to have a genetic counselor who is part of a heart and vascular program. We can recommend additional heart testing if needed. Often, it’s not. If we were testing your child because of a family history of a disorder, then a VUS may be nothing to worry about.
If one child tests negative, does that mean all of my other children will be negative?
No. Even twins can have different genetic test results. Heart conditions are usually inherited in a pattern where a parent’s positive test result means each child has a 50/50 chance of also being positive.