Heart Genetics: Testing & Screening
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Finding out you have heart disease that runs in the family doesn't have to be overwhelming. At UVA Health, our experts help you uncover what you're up against. Then we work with you to make plan for what to do about it.
About 1.3 million Americans have some form of an inherited heart or vascular disease. Whatever your risk may be, genetic testing or cardiovascular screening is the first step to identify and address that risk or rule it out.
You may benefit from genetic testing if you have:
- A family member with an inherited heart condition
- A family member who died suddenly at a young age (under age 50)
Genetic Testing & Cardiovascular Screening
Genetic Counselor, Matt Thomas, discusses the cardiovascular genetic clinic and the importance of genetics testing. Inherited heart conditions can be treated.
Inherited heart conditions aren't those that are caused by poor diet or lack of exercise. It's just a gene that you're born with that just simply causes your heart or blood vessels to grow incorrectly. My role in the cardiovascular genetics clinic is the primary genetic counselor.
My responsibility is to offer genetic testing to patients that have these inherited heart conditions. If we're able to find the gene that's responsible for someone's heart problem, then we can use that information to find out who else in the family is at risk for that same heart condition. Unfortunately, a lot of the inhered our conditions don't have symptoms. It's not something that you can feel happening. The best way to know someone's at risk is to perform that genetic testing in them.
If you can prove that that healthy and at risk family member didn't inherit the gene that causes the disease in their family, it's greatly reassuring. If somebody test positive for a gene and they're currently healthy, it gives their doctors, their cardiologist, something to be on the lookout for.
The University of Virginia Cardiovascular Genetics Program is designed to serve the entire family. And so we find ways to make sure that appointments are happening for the entire family at the most convenient times. And I'm there in clinic with the cardiologist, and I'm able to input what the family history information is so that they can have the full picture of the patient that's in front of them and also the relatives that may not be there that day.
Fortunately, for most patients, the out-of-pocket costs of a genetic test is $100 or less. It's a very personal decision to undergo genetic testing for a condition that's running in your family. We take great care and pride in helping people come up with the best decision for themselves personally.
There are a lot of emotional and psychological challenges that can come along with knowing you're at risk for a problem or worry that you may pass it on to a child. And as a team we like to focus on the entire person. We want to take care of them from a health point of view, but we also want to make sure that they feel comfortable and supported and have the resources they need to feel confident in the decisions that they're making.
A cardiologist can diagnose you with tests that include:
- Echocardiogram
- Electrocardiogram (EKG)
- MRI scan
- Exercise testing
- Holter monitoring
Cardiovascular Screening
If we confirm that your relative's condition is not caused by a mutation or if we're unable to determine the cause, we'll schedule you for a cardiovascular screening.
At that appointment, you'll better understand your risk and receive expert advice on how to manage that risk.
Your First Appointment
All first appointments and screenings should be scheduled through our Cardiovascular Genetics Clinic, located at the Heart & Vascular Center. After your first appointment, you may schedule appointments with our outreach clinics in Bristol, Lynchburg, or Winchester.
Genetic Heart Conditions
- Abdominal aortic aneurysm
- Bicuspid aortic valve
- Ehlers-Danlos syndrome type 4
- Familial thoracic aortic aneurysm and dissection
- Loeys-Dietz syndrome
- Marfan syndrome
- Thoracic aortic aneurysm and dissection
- Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)
- Dilated cardiomyopathy (DCM)
- Familial dilated cardiomyopathy (familial DCM)
- Hypertrophic cardiomyopathy (HCM)
- Left ventricular noncompaction (LVNC)
- Restrictive cardiomyopathy (RCM)
- Brugada syndrome
- Catecholaminergic polymorphic ventricular tachycardia
- Long QT syndrome
- Sudden cardiac arrest