Genetics & Heart Health: Optimizing Treatment

Advancements in genetic testing have proven beneficial for many areas of health. Armed with one’s family history, alongside the expertise of genetic counselors, cardiac specialists are helping to proactively identify and address heart issues.

However, George Lolay, MD, FACC, cardiologist with Franciscan Health Indianapolis, says patients also need to be active participants in taking preventative measures.

"What we need our patients to do, over time and working with their physicians, is to enhance their literacy when it comes to cardiovascular genetics," Dr. Lolay said. "We can do that by having them ask their parents and siblings about early-onset heart attacks, high cholesterol that runs in the family, the presence of sudden cardiac death in the family, or just having an unknown cause of death in otherwise healthy individuals."

The ideal scenario is to capture family history across a minimum of three generations, in order to have a better understanding of the disease or genetic predisposition.

4 Types Of Hereditary Influence In Heart Disease

Some diseases have greater hereditary influence than others. Dr. Lolay describes genetic heart disease in four broad categories:

1. Channelopathies, or abnormal channels or "gatekeepers" within the heart cells. This can lead to heart rhythm disturbances.
2. Cardiomyopathies, which involve heart failure due to a weak heart.
3. Aortopathies where patients tend to have a progressively enlarging aorta over time. At some point, the heart can suddenly rupture - causing cardiac death.
4. Familial hypercholesterolemia, which is a strong family history of high cholesterol. "In those families, you would have high cholesterol with early onset. So, when you're 24, 30 years old, you might have significantly high cholesterol, which obviously leads to early-onset heart attacks," Dr. Lolay said.

Using Genetics To Tailor Heart Treatment

Genetics in cardiovascular disease uses an approach that mirrors other disease states, such as breast cancer.

"With breast cancer, there are certain genes that help determine the preferred chemotherapy regimen. Some patients might respond [better] to a certain chemotherapy based on the genetic sequence compared to other patients," explained Dr. Lolay. "So, we take this same idea, where we try to individualize medical therapy and apply it to heart disease."

For example, if patients have a family history of high cholesterol, the goal is to treat them aggressively and as soon as possible in order to reduce risk of major health events like heart attacks, strokes and heart failure.

Another example is in patients who have abnormal channelopathies or sudden cardiac death from causes other than heart attacks. These heart patients may benefit from a defibrillator, which is a small device placed underneath the chest.

"In the case they develop an abnormal rhythm, it would shock them out of the abnormal rhythm," Dr. Lolay said. "Overall, the genetic component of heart disease helps us tailor the intervention or the medical therapy to the individual."

Listen Now: Genetics & Heart Health

Franciscan Health cardiologist Dr. George Lolay explains the connection between your genetic history and heart health in the DocPod podcast.

Genetic Counseling As A Team Effort

In genetic counseling, physicians are only part of the equation. Board-certified genetic counselors play a major role as well.

If a strong genetic component is identified based on one’s family history, Dr. Lolay schedules patients to meet with one of the genetic counselors. The counselors first educate the patient about the strengths and limitations of a particular genetic test. Once consent is given by the patient, a blood sample is tested for certain genes.

When the test results return to the ordering practitioner, multiple steps take place at once. The genetic counselor indicates whether a genetic variant has been identified (or not).

“If a variant exists, the patient is informed and the genetic counselor refers the patient back to, in our case, a cardiologist,” Dr. Lolay said. “At that point, we sit down with the patient to try to identify what we need to do next, whether it's medical intervention or further testing.”

Understanding Genetics Is Part Of The Solution

For genetic considerations to have a true impact on one’s cardiovascular health, Dr. Lolay says it’s critical for individuals to have a solid understanding of their family history.

“It's really not a whole lot of work. We just need you to sit down with your immediate relatives—your siblings, parents, grandparents—and ask, ‘Did anyone in the family have early-onset heart disease or cancer, diabetes, thyroid problems?’ Because it's not just the heart where we care about family history, it is other diseases as well. The more data we have, the more educated decisions we can make.”