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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 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

Arrhythmia and Cardiomyopathy

Arrhythmia
A type of heart rhythm disorder that can be genetic, an arrhythmia happens when the electrical impulses that control the heartbeat don’t work properly, causing the heart to beat irregularly.

Arrhythmia Risk Factors
Some of the most common include:

  • Age
  • Diseases like diabetes, heart disease and thyroid disease
  • Genetics
  • High blood pressure or cholesterol
  • Obesity 

Arrhythmia Symptoms
Some people may not experience any symptoms, but the most common include:

  • Chest pain
  • Fluttering in the chest
  • A skipped or racing heartbeat
  • Shortness of breath
  • Slow heartbeat

Diagnosis and Treatment
Your physician might perform an electrocardiogram or an echocardiogram imaging test to understand your symptoms. Treatment depends on the arrhythmia, and may include:

  • Medications
  • Ablation procedures (non-surgical)
  • Maze procedures (surgical)

Cardiomyopathy
Cardiomyopathy is a heart muscle disease that makes it difficult for the heart to pump blood. Different types exist, including hypertrophic cardiomyopathy.

Cardiomyopathy Risk Factors
Cardiomyopathy can be genetic. Risks for acquired cardiomyopathy include:

  • High blood pressure
  • Long-term alcohol use
  • Long-term heart issues
  • Metabolic disorders

Cardiomyopathy Symptoms
When left untreated over time, cardiomyopathy can cause symptoms like:

  • Breathlessness 
  • Chest pressure
  • Fatigue 
  • Swelling in the legs or feet

Diagnosis and Treatment
Genetic testing can help your physician understand your risk of this condition and aid in a diagnosis. Treatments could include:

  • Heart transplant
  • Lifestyle changes
  • Medications
  • Surgery or implants
Congenital Heart Disease

Congenital heart defects develop before birth and affect how blood flows into the heart. 

Risk Factors
Some congenital heart defects are genetic. Risk factors that increase the likelihood a baby will develop one include these during pregnancy:

  • Alcohol use 
  • Contracting rubella 
  • Having diabetes 
  • Smoking 

Symptoms
Many patients aren’t diagnosed until symptoms appear in adulthood, such as shortness of breath, trouble exercising or unexplained weight loss. 

Diagnosis and Treatment
A physician can perform a variety of tests to aid in diagnosing congenital heart disease, including chest X-rays, echocardiograms and electrocardiograms or imaging tests. Treatments can be conservative, like medication management, or include surgeries like:

  • Aorta repair or replacement
  • Heart transplant
  • Tetralogy of Fallot surgery
  • Valve surgery
Aortopathy

Aortopathy is a term for conditions of the aorta, including aortic aneurysms and dissections. 

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

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

Symptoms
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. 

Diagnosis and Treatment
If you have a family history of aortic disease, your doctor can perform a physical exam or imaging tests. Genetic testing can offer answers about familial aortopathy. Treatments can include lifestyle changes, medications or surgical procedures. 

Familial Hypercholesterolemia

Familial hyperlipidemia is a genetic lipid disorder that involves high lipid levels. Familial hypercholesterolemia (FH), which involves high cholesterol, is a type of hyperlipidemia but isn’t the same.

Risk Factors
Because familial hyperlipidemia runs in families, genetics are the risk factors. This condition is caused by a chromosomal mutation passed down by a parent. 

Symptoms
This condition may not have any noticeable symptoms. Once it’s advanced, it may cause chest pain, sores on one or both feet or cramping in the legs. 

Diagnosis and Treatment
Genetic testing can help your doctor understand whether you have this disorder. Blood testing can also look for high lipid levels. Treatments are typically conservative and may include taking a statin medication and getting regular exercise.

Amyloidosis

Hereditary amyloidosis is a genetic disease where amyloid proteins build up in organs like the heart, digestive tract, kidneys or eyes. 

Risk Factors
With this condition, a gene is passed from parent to child. In America, the most common form of the gene is seen in Black Americans.

Symptoms
Symptoms depend on which organ(s) has the amyloid deposits:

  • Digestive system: diarrhea, weight loss, nausea
  • Eyes: glaucoma, abnormal blood vessels in eyes
  • Heart: irregular heartbeat, fatigue
  • Kidneys: proteins in urine, kidney failure 
  • Nerve damage: numbness in feet and legs, trouble walking, dizziness

Diagnosis and Treatment
Genetic testing can pinpoint the gene that causes this condition. Treatment options will depend on the type of symptoms you have, and may include an organ transplant.

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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 CFD.CVIGenomics@AdventHealth.com.

Photo of Janet Celli, BSN, RN, PCCN

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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.

Center for Health and Wellbeing
407-644-2492

AdventHealth Wellness Center Orlando
407-303-2552

AdventHealth Wellness Center Celebration
407-303-4400

Crosby Wellness Center
407-644-3606

 

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.