Cardiovascular (heart) disease is the leading cause of death worldwide. Almost half of all adults in the United States have some form of cardiovascular disease. The cause of cardiovascular disease varies depending on the specific type, but aging, lifestyle choices like poor diet or smoking, medications, and genetic factors can contribute to disease. Regardless of the cause of cardiovascular disease, early diagnosis is key for monitoring symptoms, making lifestyle changes, or taking life-saving medication.


Why Knowing Your Genetic Risk Matters

Many cardiovascular diseases run in families. Genes are passed down from our parents and provide our body with instructions for the structure and function of our hearts, blood vessels, and cholesterol. Certain changes in your DNA cause problems with these instructions, leading to cardiovascular diseases.

Some conditions, like high blood pressure or coronary artery disease, run in families but probably result from a combination of different genetic changes that work together in a complex manner to cause disease. Other less common inherited cardiovascular diseases are caused by just one or very few genetic changes that have a strong effect in causing disease. For single-gene diseases, doctors can use a tool called genetic testing to help identify the cause of an individual’s cardiovascular symptoms.

The following inherited cardiovascular conditions can be identified with genetic testing:

  • Cardiomyopathies, 
  • Arrhythmic disorders, 
  • Thoracic aortic aneurysms and dissections,
  • Familial hypercholesterolemia (FH).

Who Should Get Tested?

Genetic testing can identify specific genetic changes associated with various heart diseases, even before symptoms appear. This early detection allows healthcare providers to monitor and manage the condition proactively, potentially preventing the progression of the disease.

It can also help determine an individual’s inherited risk of developing heart disease. If a person has a family history of a particular heart condition, genetic testing can provide insight into their likelihood of developing the disease.

Before referring you for genetic testing, your physician will review your family health history and medical history to look for patterns of disease or telling symptoms. Once you’ve been recommended for genetic testing, you’ll likely meet with a genetic counselor who will further review and interpret your family and medical history and discuss the implications of genetic testing.

It’s important to note that genetic testing is not suitable for all individuals and situations. Healthcare providers consider family history, clinical symptoms, and other medical information before recommending genetic testing. Your physician might recommend you for genetic testing if:

  • You’ve been diagnosed with certain heart conditions or were born with a heart defect.
  • You’re a close family member of someone diagnosed and tested for heart disease.
  • You’re related to someone who suffered sudden cardiac arrest.

What Happens After Genetic Testing?

After undergoing genetic testing for cardiovascular disease, the results are analyzed by medical professionals who interpret the results in the context of your medical history, family history, and other relevant factors. The goal is to understand the significance of any identified genetic changes and their potential impact on the individual’s cardiovascular health.

Based on the genetic test results and associated risk factors, healthcare providers develop a personalized medical management plan. This plan may include recommendations for lifestyle modifications, regular screenings, preventive measures, and potential treatment options. For individuals found to have an increased genetic risk, early intervention and close monitoring can help prevent or manage heart disease effectively.

Genetic testing results may have implications for your family members. If a disease-causing genetic change is identified, close relatives may be encouraged to undergo genetic testing to assess their risk.


The Promise of  Genetic Testing

Dr. William Schneider, a cardiologist at the Huntsville Cardiovascular Clinic, has seen firsthand that genetic testing for heart disease can have a life-changing impact on a patient, their outcome, and their family.

Dr. Schneider treated a male patient for atrial fibrillation, or afib, a condition in which your heart sometimes beats at an irregular or faster rhythm than normal due to an abnormality with the heart’s upper chamber.

Despite prescribing medications to keep the condition under control, the patient’s afib continued to worsen. One day, he was hospitalized because the lower chamber of his heart was out of rhythm and weakened considerably, a condition which is much more serious because it prevents the heart from pumping blood properly. Unable to identify the cause behind these symptoms, Dr. Schneider referred the patient to specialists at Vanderbilt University Medical Center.

No treatment or medication seemed to be effective. The patient, who has a wife and children, was suffering from arrhythmia and had a significantly reduced heart capacity of ten to fifteen percent capacity. Vanderbilt specialists referred him for genetic testing, hoping an underlying genetic disorder may explain the symptoms.

Once results from the genetic test were returned, the patient and his wife contacted the Smith Family Clinic for Genomic Medicine on the campus of HudsonAlpha Institute for Biotechnology for further guidance, with the help of a referral from Dr. Schneider.

The team of genetic counselors at the clinic was able to identify a rare genetic disorder that was behind the patient’s symptoms: TTN cardiomyopathy. This genetic disorder causes improper formation of the proteins that make the heart’s muscles squeeze, causing them to tangle with each other and form scar tissue. Over time, this condition is lethal because it prevents the heart from pumping blood.

Because of this diagnosis, specialists at Vanderbilt fast-tracked the patient for a heart transplant, which he received earlier this year. The procedure was life-saving, and the patient is continuing to recover well. Once he fully recovers, he is not expected to experience the symptoms he suffered from before.

Since then, the patient and his family have been in touch with the Smith Family Clinic for follow-up. Though this is a rare condition, each of his children has a fifty percent chance to inherit their father’s genetic change and have an increased risk for disease. His children and grandchildren have been recommended for consideration of genetic testing at the clinic to determine their genetic risk for developing this disorder, a decision that could change their lives and allow them to receive the appropriate screenings before symptoms begin.

If you are interested in learning what your genome can tell you about your risk for heart disease, contact the Smith Family Clinic for Genomic Medicine.