How Do Genetics Affect Heart Health?

A person’s family history can affect their heart health just as much as their lifestyle or environment. Find out what steps to take if you think you have a hereditary heart condition.

Genetic counselor Jennifer Rios-Sanchez, MS, LCGC, tests and counsels patients for all kinds of hereditary heart problems in her work with the USC Cardiac and Vascular Institute, part of Keck Medicine of USC.

“Conditions that I test for include arrhythmias, dyslipidemia, cardiomyopathy and aortic disease,” Rios says.

However, she’s quick to point out that a wide range of factors can lead to heart problems, so it can be tough for people to determine whether they’re at risk for hereditary heart disease. To help make things clearer, Rios recently addressed the most common questions people ask.

Should I get tested for hereditary heart disease?

Rios recommends paying attention to a few key factors to see if genetic testing might be right for you or your family members.

Family history: If your close family members, especially your parents and siblings, all have trouble with the same cardiovascular issue, this could be a strong indicator of a genetic component.

Patients who are adopted and have a heart condition may also benefit from genetic testing.

“Not knowing one’s family history should not deter you,” Rios says.

Age: While aging can contribute to the development of atherosclerosis, high cholesterol, heart failure and amyloidosis, an inherited heart condition will often show up earlier in life — usually before the age of 60, though sometimes younger.

Having cardiovascular symptoms: “If you’re experiencing any kind of heart problem, talk to your doctor and ask if genetic testing might be a helpful part of your workup,” Rios says.

It will determine whether anyone else in your family is at risk, and it could help doctors determine which medications will be the most effective for you.

What if I test positive for a hereditary heart condition?

If you test positive, your genetic counselor will work with your doctor to make sure you’re informed, provide educational materials to you and your family and explore which interventions (prevention and treatment) may be good to start early.

“Because some of these conditions are so rare, we also help with support groups and patient foundations if support is needed,” Rios says.

Aortic aneurysm: There are some families for whom there is a high risk of the aorta (the main blood vessel that comes directly off of the heart) developing an aneurysm (bulge) or dissection (rupture).

“Patients who test positive for an inherited aortic risk can benefit from earlier screening and planned surgical intervention, if needed, in the hopes of reducing the risk of an emergency procedure or life-threatening situation,” Rios says.

Arrythmias: Conditions affecting the heart’s rhythm can be especially difficult to diagnose, but some have a higher likelihood of being genetic. If identified early, doctors can look into an implantable cardioverter defibrillator or other potentially life-saving interventions.

Unhealthy cholesterol levels: When people are genetically predisposed to high cholesterol, certain medications may not work for them. This makes it especially important for people to get tested for a genetic component to their high cholesterol if they develop it earlier in life.

Amyloidosis: This is a rare condition where abnormal proteins called amyloids build up in the tissues and organs, and it can lead to kidney failure as well as heart failure.

“There are different types of amyloidosis, including one that is genetic and more common in certain ethnic groups,” Rios says. “Patients can develop heart failure, but knowing your risk early on is helpful when discussing treatment options with your cardiologist.”

What if I test negative?

Rios says that if you have a strong family history of heart disease, or if you’ve developed cardiovascular problems before the age of 50, your first genetic screening probably shouldn’t be your last.

“Cardiovascular genetics is still very new, but developments in our testing capabilities are happening all the time,” Rios says. “So, if patients test negative for a genetic link, I may ask them to come back in three to five years, because gene panels will likely have doubled or tripled in size by then.”

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