How genetics play a role in heart health

DNA strand

Each one of us has a genetic makeup passed down to us through our family line. Good or bad, we all carry two copies of each gene (except those on the sex chromosomes X and Y). A combination of nature and nurture both play a role in the complexity of our heart health.

What role does genetics play in heart health?

Single gene disorders typically have a clear family progression, with each child having a 50/50 chance of inheriting a mutated gene. Other inheritance patterns exist (recessive, x-linked, mitochondrial), but dominant inheritance is most common in heart conditions caused by single-gene mutations.

A person's genetics play a role in most, if not all, heart conditions. "In coronary artery disease (CAD), for example, studies suggest that 50% of one's risk for developing CAD is set at birth by your genetic makeup, with the other 50% determined by lifestyle (or environmental) factors," says Douglas Stoller, MD, Nebraska Medicine cardiologist and cardiovascular genetics director.

Certain genetic conditions have a much higher risk of developing disease than others. Early onset cardiac disease (before the age of 40 to 50) affecting multiple family members should raise suspicion, especially if they make wise lifestyle decisions.

Can I counteract a genetic predisposition?

If you have a family history of coronary conditions like coronary artery disease, positive lifestyle choices will make a difference. A -healthy-heart diet, regular exercise, and avoiding tobacco lowers the risk of coronary events regardless of genetic risk. According to Dr. Stoller, low-risk genes do matter. Research suggests that "people with good genes making poor lifestyle choices had the same coronary event risk as those with bad genes making good lifestyle choices."

When is genetic testing for heart conditions recommended?

We recommend genetic testing for patients with certain kinds of cardiomyopathies and arrhythmia disease, such as:

  • Hypertrophic cardiomyopathy (heart walls are much thicker than normal) 
  • Dilated cardiomyopathy (heart that is enlarged and weaker than normal) 
  • Arrhythmogenic right ventricular cardiomyopathy 
  • Familial hypercholesterolemia
  • Long QT syndrome 
  • Brugada syndrome

We offer genetic testing when we are likely to identify the causative (pathogenic) gene mutation. Also, if you have a first-degree family member (parent, sibling, or child) who had a pathogenic mutation identified, you should receive genetic testing (and clinical screening) for that specific mutation as well. Genetic testing is performed on a person's DNA using a blood sample, cheek swab or saliva sample. The cost has declined significantly in recent years, which is good news for those who need it.

What about genetic testing like 23andMe® and®?

Consumer genetic testing is becoming quite common but should not be relied on for diagnosis. "I recommend significant caution when interpreting the health-related findings in these tests," says Dr. Stoller, "although they may provide some interesting information, they are not meant to be a clinical test for the diagnosis of genetic conditions. These reports rely heavily on studies of variable quality and analysis and are based on relative risk instead of absolute risk. Most of the variants included in these consumer tests are considered common and have a minimal individual impact on one's overall risk for that specific disease."

Doing everything you can to keep your heart healthy is essential regardless of risk. We are here to help you in your journey toward wellness.

Ready to begin? Call for an appointment at 800.922.0000.