Modifiable risk factors, like quitting smoking, exercising regularly, and eating a balanced diet, can help keep your heart healthy, but what role does family history play when it comes to heart disease risk? In other words, is heart disease hereditary? And if so, what steps can you take to reduce risk?

“Genetics counts for up to half of the risk of cardiovascular disease,” says Dr. Jessica Hennessey, a cardiologist at NewYork-Presbyterian/Columbia University Irving Medical Center. “It’s one of many factors, but it’s significant and oftentimes the first clue.”

Having close relatives, like a parent or sibling, with heart disease can increase your chances of developing a heart condition. But, shared environments, which can influence dietary choices and physical activity, also play a role in families.

“Learning your family history can empower you to take control of your own healthcare,” says Natalie Lippa, a genetic counselor at Columbia University Irving Medical Center’s Cardiogenetics Clinic. “This knowledge can help patients pick up potential health concerns before a serious event and prevent progression. Identifying the specific genetic diagnosis in your family allows you and your providers to keep up to date on the latest screenings and treatments.”

Dr. Hennessey and Natalie share more with Health Matters on hereditary heart disease, genetic testing, and how to collect your family health history.

How is heart disease hereditary?
Dr. Hennessey: Heart disease is a combination of environmental and genetic factors.

In some cases it can be inherited, where a gene is passed down from either one or both parents. You have millions and millions of genes, and if one of your parents had a specific gene for heart disease, you have a 50/50 chance of inheriting it. Your parents can be your glimpse into your future, from a genetic perspective.

Natalie: Knowing your family history can help you and your clinician identify if you’re at a much higher risk than the general population.  It’s not just about wanting to know what could happen, but there are often screenings and treatments that can help us monitor your health and be more proactive.

What are some types of heart conditions that can be hereditary?

• Coronary heart disease: blockages in the arteries that supply blood to the heart
• Congenital heart disease: a heart defect present at birth
• Cardiomyopathy: abnormal heart function without any obvious cause
• High cholesterol: excess cholesterol (a waxy substance essential for making hormones, vitamins, and cells), that can increase risk for plaque formation
• Arrythmia: abnormal heart rhythm disorder
• Dilated aorta: an enlargement of the aorta, the body’s major blood vessel responsible for carrying blood to the body

What lifestyle changes can you make if heart disease runs in your family?
Dr. Hennessey: You can’t change your family history, but there are modifiable risk factors.

Take for example, high cholesterol or high blood pressure. If people in your family manifested symptoms in their 50s, it’s likely it could happen with you, but that doesn’t mean you shouldn’t make changes until you’re 50.

Diet is a big factor. You can stick to a low cholesterol, low fat, low-sugar diet. For exercise, move your body for 30 minutes a day, five days a week. With your cardiologist, you can make sure you’re mitigating risk, whether that’s by making small changes in your daily routine or taking medication at an earlier age.

When should someone consider genetic testing?
Natalie: After collecting your family history, your cardiologist or primary care physician can help guide whether you should consider genetic testing.

In our clinic, we look for a family history of disease, such as multiple people in a family who’ve had conditions like high cholesterol, or heart attacks at a very young age. That might indicate testing for something like familial hypercholesterolemia, which is related to genes that help remove lipids from the bloodstream.

There are other conditions where regardless of family history, you’d be eligible for genetic testing. This includes conditions like aortopathy, which are diseases that affect the aorta. Guidelines recommend genetic testing for individuals who have a dilated aorta before the age of 60.

Dr. Hennessey: It’s very individualized, and your physician and genetic counselors can help guide you through the process.

Let’s take the example of your parent having a genetic mutation they’re aware of. It can become a discussion of whether you’d want to be tested as well and deciding whether you’re ready to know this information.

That’s where the role of a genetic counselor comes into play, to discuss options with asymptomatic individuals who have known genetic disease in their family.

What’s the process of genetic testing?
Natalie: We start by collecting a thorough, three-generation family history to identify if there’s any specific condition running through the family.

Then, we discuss what genetic testing would mean for the patient, the types of results, and how this would be actionable. There’s an emphasis on psychologically understanding what it means to have a genetic condition if it does turn out to be positive, and supporting individuals through that process once we have test results.

Your cardiologist will do a full physical exam, and the testing process itself involves a saliva or blood sample. Once results return from the laboratory, they can be positive, negative or uncertain. Positive means we have identified a genetic cause for the patient’s symptoms.

Uncertain or negative results can be tricky to understand.  A genetic counselor can help patients understand these results. Even in the context of a negative result, we may still see evidence of genetic disease in the family history. Next steps can include guiding certain family members to follow up for additional cardiac testing.

If the results are positive, we discuss cascade testing, which is where we genetically test other family members for the condition as well.

Are there benefits to genetic testing?
Natalie: If a patient receives positive results, a benefit to sharing this knowledge with other family members is possible changes in their treatment. We help give people the right tools to have these discussions and make informed decisions.

In cardiology genetics, we’re entering a phase of precision medicine and gene therapy trials where at the molecular level, we can correct the genetic cause of disease in a person, which is very exciting.