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With Genetic Testing, Take Charge of Your Heart Health

Your genes offer incredible insights into your heart health. Through genetic testing, we can identify your risk of genetic heart conditions like familial hypercholesterolemia (FH), aortopathy and hypertrophic cardiomyopathy (HCM) — and prevent or treat them earlier so you can stay healthier for longer.

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Identifying FH With the WholeMe Study

In partnership with personal genomics company Helix, we launched a large-scale DNA study that’s the first of its kind in Florida. This research not only gives participants a unique look at their genes and personal traits — from caffeine metabolism to circadian rhythm — it provides an important screening for familial hypercholesterolemia and the potential for early intervention of developing health conditions.

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How Genetic Testing Works for Cardiovascular Conditions

Many heart-related conditions are hereditary, meaning they’re tied to genetic factors that are passed down in families. By evaluating the variations in your genes, genetic testing gives you and your health care provider insights that help you:

  • Know your unique risk of developing a heart-related disease
  • Take preventive measures to stay healthier longer
  • Diagnose a genetic heart disease early, when it’s easiest to treat
  • Choose the best possible treatment options for you, like medications or lifestyle changes
  • Identify who else in your family may have the same risk

To get started with cardiovascular genetic testing, reach out to our cardiovascular health and wellness nurse navigator team today.

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Unmatched Care for Genetic Heart Conditions


Aortopathy is a term for conditions of the aorta, including aortic aneurysms and aortic dissections. Because aortopathy can be inherited, genetic testing can offer answers.

Risk Factors
Genetics can cause aortopathy, or it may be caused by plaque buildup. Risk factors for developing aortopathy include:

  • Age (over 65)
  • Autoimmune disease 
  • Genetics
  • High blood pressure and cholesterol
  • Smoking

Aortopathy symptoms are the symptoms of the conditions it causes, like aneurysms, which may cause symptoms when close to rupturing, like trouble breathing and lower back or groin pain. 

If you have a family history of aortic disease, your doctor can perform a physical exam or imaging tests of your aorta. Genetic testing can offer answers about familial aortopathy. 

Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a common genetic condition that causes high cholesterol. It often goes undiagnosed, leading to early heart attacks and heart disease. 

Risk Factors 
People with FH have a high amount of LDL or “bad” cholesterol (due to a mutation in one of the genes that controls the way cholesterol is cleared by the body), causing plaque buildup. 

If LDL levels are high, symptoms may include:

  • Bumps around the knuckles, elbows and knees (xanthomas)
  • Swollen Achilles tendons
  • Yellowish areas around the eyes 

Diagnosis and Treatment
FH can be diagnosed with a blood test, and treatments may include medications and lifestyle changes. Advanced treatments for severe cases may include lipoprotein apheresis, Lomitapide or a liver transplant.

Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a common genetic condition that affects your heart muscle, and genetic testing can help diagnose or identify your risk. 

Diagnosing HCM may include tests like: 

  • An echocardiogram or electrocardiogram (ECG)
  • Cardiac MRI
  • Electrophysiology testing 
  • Genetic testing
  • Stress echocardiogram

Treatments for HCM include: 

  • Heart transplant 
  • Lifestyle changes 
  • Implanted devices 
  • Medicines 
  • Surgical options (alcohol septal ablation and surgical myectomy)

As we are the only HCM Center of Excellence in Central Florida, our physicians have a wealth of experience treating the different clinical profiles of this condition, and you can count on us for unparalleled care for HCM and your whole health.

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Contact Your Support Team

If you’re diagnosed with familial hypercholesterolemia, our team of cardiologists is here to help you take preventative action. If you have questions or would like help making appointments, reach out to our genomics care coordinator, Janet Celli, at 407-303-9241 or

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Health Resources

Learn how to exercise safely and effectively. The medical fitness program at AdventHealth Sports Med and Rehab offers a wide-range of services to help you live healthy and happy. For more information, click here or call 407-303-8080.

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Crosby Wellness Center


Tobacco Free Florida (1-800-784-8669) has great resources available to the public 24/7.

In addition, the following locations have special programs designed to help you quit smoking.