Genetic Testing For Heart Conditions

People develop different health conditions, including heart disease, due to a combination of factors. Some of it has to do with lifestyle – the foods we eat, how active we are – and some of it has to do with our genetics.

Knowing your genetic risk of heart disease or other heart-related conditions can be critical to preventing any potential health issues. With cardiovascular disease being the leading cause of death in the U.S., this makes cardiovascular genetic testing even more important.

Amanda Coniglio, MD, is a cardiologist specializing in cardiovascular genetics at the Rochester Regional Health Sands-Constellation Heart Institute. She explains how genetic testing can help prevent serious heart problems and where to begin the process.

Who is eligible for genetic testing?

Currently, genetic testing is available for patients who are in their late teen years and above.

Patients with a personal or family history of heart problems are encouraged to schedule a consultation. Some heart problems or related conditions include:

• abnormal structures of the heart
• aortic diseases
• high blood pressure
• high cholesterol
• heart failure
• heart valve abnormalities
• irregular heartbeat

Providers offering genetic testing through the Comprehensive Cardiovascular Genetics Program at Rochester Regional Health’s Sands-Constellation Heart Institute use a personalized genetic evaluation to determine the risk to each patient.

“We want to see if there is anything that runs in their family that they could pass along to future generations and also help determine how serious their own risk is going forward with their disease,” Dr. Coniglio said.

Experts like Dr. Coniglio recommend repeating genetic testing at least every 5-10 years since new research includes newly-discovered genes that are associated with different diseases.

How to get tested for genetic heart conditions

Genetic testing is typically done via a blood draw, cheek swab, or saliva sample. Anyone living in New York can request to do testing virtually by using a testing kit that is shipped to their house.

A follow-up visit is scheduled in 4-6 weeks to review the results of the testing and discuss any future risk. Depending on the results, providers may offer testing to other members of the family who may be affected.

If someone is found to have an increased risk of future heart problems due to family history, they can start on medical therapy or routine surveillance heart imaging and keep their heart strong.

Experts strongly encourage people not to ignore potential signs of heart disease – or signs of heart issues that run in their family.

"Many times, when people have a family history of heart attacks, this is actually an assumption and these family members could have passed away from abnormal heart rhythms or structural abnormalities,” Dr. Coniglio said. “We always recommend the patients with any family history of sudden death or heart disease be evaluated."