Cardiogenetic Testing

To speak with a cardiogenetic specialist, call 410-328-3335.

We are one of the few centers in the region with a special group of geneticists and cardiologists who test for genetic conditions of the heart. If there is a family history of cardiac disease, cardiogenetic testing can help take identify abnormalities and allow patients to take steps to prevent cardiac emergencies.

We strongly recommend that families get tested for genetic heart abnormalities if there is a history of:

  • Non-atherosclerotic heart conditions, heart conditions that are not related to atherosclerosis, a hardening of the arteries that tends to be acquired, not inherited 
  • Aortic disease (Learn more about our Center for Aortic Disease.)
  • Congenital heart disease, a heart disease you are born with. Learn more about congenital heart disease.

It is important for families to understand that just because a family member has a condition, it does not mean all other family members will also have it. However, without undergoing genetic testing, loved ones are at risk for cardiac emergencies that could have devastating consequences.

As the science of cardiogenetics improves and sharpens, specialists can track certain syndromes that run in families. Geneticists work together with cardiologists to determine which side of the family the gene originated from and therefore which family members should be tested. Learn more about the comprehensive services we provide for congenital heart patients in our Adult Congenital Heart Program.

Possible inherited heart conditions include:

  • Aneurysms
  • Bicuspid aortic valve disease, the most common genetic aortic condition. Roughly five percent of the population has bicuspid aortic valve disease, and it gets passed down through generations. Learn more about valve disease.
  • Connective tissue disorders, such as Marfan syndrome or Ehlers-Danlos or Loeys-Dietz syndrome

Family members are never too young or too old to consider cardiogenetic testing for non-atherosclerotic conditions. We can even perform some tests on babies in utero to help create a birth plan, ensuring a safe delivery and proper medical care at birth.

The University of Maryland Children’s Heart Program specializes in caring for newborns with congenital heart defects. Learn more about our Children’s Heart Program.

Here’s what you can expect before, during and after your appointment at our cardiogenetics clinic:

  1. Appointment with a cardiologist: Before your appointment with our clinic, meet with a cardiologist to discuss whether genetic testing is right for you and your family members. 
  2. Blood work: Your cardiologist may recommend blood work for family members to look for markers of inheritable heart conditions, such as Marfan syndrome. 
  3. Imaging test: We may request that you get a computed tomography (CT) scan or echocardiogram if we need additional information. 
  4. Getting tested: We will discuss with you and your family members the pros and cons of genetic testing. If you decide to get tested and we detect a genetic condition, we will discuss follow-up care and treatment options.

We will discuss your results with you and your family members:

  • Negative result: The family member does not carry the gene of their loved one’s condition.
  • Positive result: This means we identified the gene for a cardiac condition. However, even with a positive result, the family member with the gene may never develop the disease.

Regardless of the test result, many families who undergo testing feel free, knowing one way or the other. They are able to move on with peace of mind or work with their cardiologist to develop a plan of action to minimize the risk of cardiac emergencies.

If a family member does have a gene that indicates a heart condition, they will begin regular screening appointments to actively manage the disease, follow its progression and perhaps even begin taking medications to reduce the risk of an emergency. Our heart team provides care that is:

  • Comprehensive: Our heart team has extensive experience caring for patients with a wide range of heart conditions, including genetic heart conditions. We have the capabilities and resources to tailor a treatment plan that meets your individual needs. We work closely with patients and family members to ensure you are receiving the most effective care possible.
  • Advanced: We treat patients that have even the most complicated conditions, including patients who have been turned down elsewhere for treatment. 
  • Minimally invasive: We are committed to providing you with the least invasive procedure possible, leading to a shorter, more comfortable recovery.