When Should You Consider Genetic Testing for Heart Disease?

February 18, 2025

Illustration of the human circulatory system

Heart problems often run in families. If you’re concerned about heart disease, genetic testing can help prevent health complications in the future.

“Certain gene mutations predispose a person to disease, but it doesn’t guarantee you will get the disease,” says Judith Mackall, MD, Director of the Cardiovascular Genetics Clinic at University Hospitals Harrington Heart & Vascular Institute. “Genetic testing allows us to identify people who may not have any signs of disease, but who may be at risk.”

Common Heart Conditions

Genetic mutations can play a role in a number of heart conditions, which can be caused by a single gene or the interaction of multiple genes. “Tremendous progress has been made Identifying genetic variants that cause certain heart diseases and developing genetic tests for those genes,” says Dr. Mackall.

Hypertrophic cardiomyopathy is the most common genetic heart condition. The heart muscle becomes thick, forcing the heart to work harder to pump blood. The condition can lead to complications, including heart failure and atrial fibrillation, and is a common cause of sudden cardiac death in young people.

Dilated cardiomyopathy occurs when heart muscle grows large and becomes weaker, diminishing heart pumping capacity. Familial dilated cardiomyopathy may lead to heart failure or abnormal heart rhythms.

Arrhythmogenic cardiomyopathy occurs when heart muscle cells don’t develop properly. Over time, the cells are replaced by scar tissue and fat, which disrupts the heart’s electrical signals and can cause life-threatening arrhythmias.

Heart rhythm disorders (arrhythmias) cause abnormal heartbeats that can make the heart beat too fast, too slow or erratically. They occur because of a heart disorder or because of scarring or fibrosis within the heart wall. Typically, patients experience palpitations or fluttering, light headedness or shortness of breath. Often these can be treated very effectively.

Thoracic aortic aneurysms are a weakened or bulging area of the aorta, which can cause rupture or dissection of the artery wall. Inherited conditions like Marfan’s, fibromuscular dysplasia, or Loeys-Deitz syndrome increase the risk of developing an aneurysm.

Familial hypercholesterolemia is a genetic condition where people are born with high cholesterol, which raises risk of heart disease.

Who Should Seek Genetic Testing

“If an inherited heart disease is established or suspected, genetic testing is typically recommended,” Dr. Mackall says. “When a genetic mutation is identified within a family, then first-degree relatives should consider undergoing genetic testing and counseling. This includes a parent, sibling or child with an inherited heart condition."

Genetic tests require a DNA sample, which can be obtained with a blood or saliva sample. A genetic counseling appointment typically includes the following:

A full personal and family medical history, going back three generations if possible.
A family history of heart attacks, coronary bypass surgery, angioplasty, sudden cardiac arrest, heart failure, high cholesterol, stroke and congenital heart defects.
The ages of relatives at the time they developed diseases or died from a heart condition.
Discussion of genetic testing results, as well as unknowns and potential implications for the patient and family.

Managing Genetic Heart Disease

If genetic testing reveals an inherited condition, lifestyle changes, medication or surgery may be recommended. Specific gene mutations can help tailor treatment to an individual's needs.

For people who have a genetic mutation but aren’t having symptoms yet, continued follow-up care is needed. Your doctor may recommend steps to reduce risk, including:

Healthy lifestyle changes including diet, exercise, alcohol intake, tobacco and body weight.
Regular testing with a cardiologist to monitor for symptoms of the cardiac condition. This may include blood testing, electrocardiogram or cardiac imaging such as an echocardiogram, depending on the condition.