Transcription:
When To Consider Genetic Testing for Your Heart

Melanie Cole (Host):  Heart conditions run in some families and genetic testing may help family members better understand their risk for hereditary heart conditions. My guest today is Matthew Thomas. He’s a genetics counselor at UVA Cardiovascular Genetics Clinic. Welcome to the show, Matthew. Let’s talk about genetics and heart disease. How would someone know if they are at risk for an inherited heart disease? 

Matthew Thomas (Guest):  Melanie, thank you for having me. Someone would know if they’re at risk for an inherited heart disease if there is a pattern of the disease in their family. What you tend to see with heart conditions that are genetic are people that get diagnosed with certain heart problems, like enlarged hearts or cardiomyopathies or heart rhythm disorders, arrhythmia at younger ages than you would expect. The thing that stands out about inherited heart disease is these are caused by genes that are faulty, that you’re just born with and that maybe running in your family for generations. It’s not the result of poor diet or lack of exercise. It’s a genetic predisposition that you have. Some clues that you would see aside from an early age of diagnosis are someone in the family passing away suddenly and unexpectedly at an age younger than would be expected, say, less than 50 years old. Those are a couple of things that stand out.  

Melanie:  What would somebody do if they find out that their family members, immediate family members, have had heart disease problems before? What would you advise be the first thing that they should do? 

Matthew:  The patient or person out there who’s concerned that they may have an inherited heart condition in their family, the most useful thing that they can do is just gather their family history, talking with siblings or parents, grandparents, aunts, uncles to find out if there was somebody who passed away suddenly at a young age. What were the circumstances behind that? Was there ever a diagnosis? One thing I commonly see when I meet with patients is that people commonly refer to any death that happens suddenly as a heart attack and what it turns out is oftentimes that heart attack may have actually been a typical heart attack that many people can have, but there are also heart issues, cardiac arrests, that can be caused by an electrical problem with the heart or structural problem that has nothing to do with a typical risk that you would get again from diet and exercise or related concern. Collecting the family history would be step one, and then if the patient has a concern, sharing that information with their primary care doctor. You can even directly call a cardiovascular genetics provider to find out, “Okay, is this a good reason to come in for a concern? Is there something that you might be able to help me with?”

Melanie:  What can someone expect when they’re getting a genetic test for heart conditions and does the genetic test tell you anything about their lifestyle risk for heart disease? 

Matthew:  Genetic testing has some good value for people that are concerned about their risk for having a heart condition that’s running in their family. Occasionally, we are able to find a test result that explains exactly why somebody has a given heart condition. For example, if somebody comes to our clinic with a genetic heart condition called hypertrophic cardiomyopathy where a portion of the heart is thicker and it can lead to certain problems with how the heart pumps and send the electrical signals in the heart, we can do a very cutting edge state-of-the-art genetic test on a blood sample to find the gene that’s responsible for that patient’s heart problem. Then, that test can then be used for other people in the family, like if a mother comes to see me when she has children that are about to start playing sports in high school and she wants to know, “I have hypertrophic cardiomyopathy, are my children at risk? Is it safe for them to play sports?” By finding the gene in the mom, we would have the ability to then know whether the children may carry the gene or not and that would determine what their risk is for having that disease. If we find the gene in one of her children, then they may receive some restrictions in their exercise actually. For some people, it’s not safe to be in competitive sports when you have this heart condition because it puts you at risk. On the other hand, if they’re negative for the gene, that means that they’re going to likely be cleared to play with no restrictions whatsoever, and that’s pretty reassuring to the athlete and the family. 

Melanie:  Besides blood tests, Matthew, what other type of tests do you do for genetic counseling? 

Matthew:  I work as a part of a team here, and what we typically do is a combination of genetic testing when indicated and cardiology screening. If genetic testing doesn’t provide any answer but we still believe a patient has an inherited heart condition, then we rely on cardiology testing, and that would be things like an echocardiogram or an ultrasound of the heart or an EKG which is looking at the heart rhythm. Sometimes, we do exercise testing and other sorts of heart studies that are not invasive, but they give us a good picture of the heart and its health and that gives us reassurance when you know there is a pattern of disease in the family when you examine somebody with good cardiology testing and interpreted by a cardiologist to determine if there is a current risk and whether that needs to be repeated again as the person gets older. 

Melanie:  What’s your role within the cardiovascular genetics clinic? 

Matthew:  I’m a genetic counselor. I work exclusively with cardiovascular disorders, and my role is to do two things. One is to identify patients that are at high risk for or have an inherited heart condition and offer them genetic testing that’s indicated based on their condition. The second thing is to get the word out to family. Even though I may be meeting with one patient in an afternoon, one patient per half hour, hour slot, I help reach the family members that aren’t in the room to make sure they know that they could be at risk for the same thing and they can get protected by close cardiology screening. So I basically work with them to offer genetic testing and then get the word out to family.

Melanie:  If someone gets a positive test result, Matthew, does that mean they’re a ticking time bomb? Does that mean that they will necessarily have one of these types of genetic heart disease or are there things they can do to change the outcome? 

Matthew:  Fortunately, inherited heart conditions are very responsive to treatment. We may not be able to prevent problems from happening in some people, but we can certainly prevent actually the more serious complications like a cardiac arrest. That requires early identification of the disease and that’s what’s critical with this conditions. What we want to avoid is somebody who is at risk for a serious inherited heart condition that predisposes to cardiac arrests from not being aware of it, not receiving necessary medicine or receiving necessary surveillance to make sure that if they needed to have a procedure done to protect them that they don’t miss that opportunity. Fortunately, we feel very positive when we can diagnose the patient with the positive result that we can take good care of them to protect them from serious complications. Each disorder is very unique in the way that it affects somebody, but we are in general very positive about our ability to make sure that we can prevent really serious events from happening in someone.  

Melanie:  Why should patients come to UVA to address their concerns about inherited heart disease, Matthew? 

Matthew:  At the University of Virginia, we have a multidisciplinary team. I am a member of that team as the genetic counselor. We have cardiologists that specialize in electrophysiology or heart rhythm, congenital heart diseases, sports cardiology. We have specialists that emphasize heart failure, enlargement of the heart or cardiomyopathy. Whatever the individual condition is that’s running in the family, we have the expertise here to take good care. We all work together to help both patients and their family members who have these conditions, and as a team to make sure that we’re providing the optimal service for the entire family who comes here. This doesn’t happen in a vacuum. You mentioned the idea of this being for some people, when is the next you’re going to drop, what could happen next? We provide as much support as necessary to make sure that when we make these diagnoses, the patients feel that they get the support they need to live the most fulfilling and active life that they possibly can.

Melanie:  Thank you so much, Matthew. For more information on the genetics clinic at UVA, you can go to uvahealth.com. That’s uvahealth.com. You’re listening to UVA Health Systems Radio. This is Melanie Cole. Have a great day.