Cardiogenetic testing

Dr Fisher talking to patient

Dr. Stacy Fisher with patient.

Early detection saves lives.

Early detection of aortic conditions means that patients can get the preventive care or medical attention they need in order to prevent a life-threatening event from an aortic dissection or ruptured aortic aneurysm. If not detected, or if left untreated, aortic emergencies can result in deadly consequences with very little time to respond. 

The University of Maryland Center for Aortic Disease is one of the few centers in the region to provide a special group of geneticists and cardiologists who are equipped to test for genetic conditions of the aorta. Patients with a known history of non-atherosclerotic aortic disease are encouraged to get their family members tested so they can take steps to prevent unnecessary death from aortic emergencies.

“One of the greatest gifts a patient can get out of their own struggle with aortic disease is to protect their family from sudden death,” said Stacy Fisher, MD, who oversees the cardiogenetics program at the University of Maryland.

Who should get cardiogenetic testing?

Doctors strongly recommend that families with a known history of aortic conditions (specifically non-atherosclerotic conditions) help their loved ones avoid catastrophic events by getting tested for genetic aortic abnormalities.

As the science of cardiogenetics gets more and more personal, specialists can track certain syndromes that run in families. Geneticists and cardiologists work together to create a pedigree to see what side of the family the gene originated from and determine which family members should be tested.

For example, geneticists can track aneurysms in a family. Other genetic conditions include bicuspid aortic valve disease - the most common genetic aortic condition. Roughly 5% of the population has bicuspid aortic valve disease, and it gets passed down through generations. Families of patients with connective tissue disorders, like Marfan syndrome or Ehlers-Danlos or Loeys-Dietz syndrome, should also consider cardiogenetic testing. 

Family members are never too young or too old to consider cardiogenetic testing for non-atherosclerotic conditions. Some tests can even be performed on babies in utero to help influence a birth plan and ensure 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.

It is important for families to understand that just because a family member has a condition does not mean all other family members will also have it. Some genetic aortic conditions only have a 25-50% penetration rate through families. However, without undergoing genetic testing, loved ones are at risk for aortic emergencies that could have devastating consequences, including death. 

What to expect during cardiogenetics testing

Prior to an appointment at the cardiogenetics clinic, patients will have discussed their medical history and had a physical exam with a cardiologist who can determine whether genetic testing is advisable for other family members. If a patient is being seen for care related to an inheritable condition, the cardiologist may recommend that family members of that patient schedule an appointment for cardiogenetic testing to determine if they too carry the gene.

Blood work may be recommended for family members after they too have had a physical examination and review of family history. The blood work will look for directed genetic or metabolic markers of related heart conditions that can be inherited, such as Marfan syndrome. The test results may take between six to 10 weeks to come back, at which time a follow-up appointment is scheduled to discuss the results with the family. CT scans or echocardiograms may be requested for additional information, depending on what is appropriate for detection in each family.

Physicians and geneticists within the cardiogenetics program work closely with the patient and their family members to discuss the pros and cons of genetic testing. The team stresses that while genetic testing is important in being proactive in your health and knowing your risks, it does not replace standard medical care should a genetic condition be detected. The power lies in knowing when someone is at risk so they can take steps to avoid emergencies.

What if a loved one tests positive for the gene?

University of Maryland experts stress that even if a gene for a cardiac condition is identified, the family member may not ever develop the disease. Many family members will screen negative, meaning they do not carry the gene of their loved one’s condition. Regardless of the test result, many families are set free by knowing one way or the other and can move on with peace of mind or a plan of action to minimize the risk of aortic emergencies.

If a family member does have a gene that indicates an aortic 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 emergent event. The expert team within the Center for Aortic Disease will work together to stay in front of a patient’s diagnosis and take the appropriate steps to keep a condition under control.

To schedule an appointment at the Center for Aortic Disease, please call 410-328-4771.

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