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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.

Unmatched Care for Genetic Heart Conditions

Our dedicated teams provide genetic testing and treatment for these and other inherited heart conditions. Learn about the risk factors, symptoms, diagnosis and treatments for each.

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 risk factors include:

  • Cardiomyopathy
  • Exposure to electrolyte imbalances or other chemicals that affect the cardiac conduction system
  • Family history
  • Muscular dystrophies
  • Non-genetic causes

Arrhythmia Symptoms

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

  • A skipped or racing heartbeat
  • Chest pain
  • Fluttering in the chest
  • Shortness of breath
  • Slow heartbeat
  • Sudden cardiac arrest
  • Syncope
  • Weakness

Arrhythmia Diagnosis and Treatment

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

  • Ablation procedures (non-surgical)
  • Medications
  • Surgically implanted devices (like a pacemaker or defibrillator)


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

Cardiomyopathy Risk Factors

Cardiomyopathy can be genetic. Some distinguishing risk factors include:

  • Exclusion of other non-genetic causes
  • Personal or family history of cardiomyopathy
  • Personal or family history of muscular dystrophies

Risks for acquired (non-genetic) cardiomyopathy include:

  • High blood pressure
  • Long-term alcohol use
  • Long-term cardiovascular risk factors
  • Metabolic disorders

Cardiomyopathy Symptoms

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

  • Breathlessness
  • Chest pressure
  • Fatigue
  • Palpitations
  • Sudden cardiac arrest
  • Swelling in the legs or feet
  • Syncope

Cardiomyopathy Diagnosis and Treatment

Genetic testing can help physicians understand a person’s risk of this condition and aid in a diagnosis. Treatments could include:

  • Lifestyle changes
  • Medications
  • Surgery or implants
  • Heart transplant or other advanced heart failure therapies

Congenital heart disease (CHD) refers to common birth defects that occur during fetal development. CHD may or may not be inherited from a parent.

CHD impairs blood flow into the heart by affecting the connections between the heart chambers, valves or the major vessels that connect the heart chambers with the rest of the body.

CHD may be simple or complex. Examples of simple CHD include atrial septal defects (ASD), patent foramen ovale (PFO), patent ductus arteriosus (PDA) and ventricular septal defects (VSD). Examples of complex CHD include tetralogy of Fallot and hypoplastic left heart syndrome.  

Congenital Heart Disease Causes and Risk Factors

The main causes and risks include:

  • Genetic causes: multiple single genes, multiple chromosome abnormalities and a family history of congenital heart disease              
  • Congenital infections
  • Uncontrolled maternal diabetes mellitus

Congenital Heart Disease Symptoms

Cyanosis, breathing difficulties and a heart murmur in the newborn are the earliest signs of CHD. However, not all types of CHD produce symptoms after birth, and may not be detected until adulthood.  

Congenital Heart Disease Diagnosis

It’s possible to diagnose CHD during pregnancy if it’s detected during an ultrasound, or soon after birth, as all babies routinely undergo a screening for severe (cyanotic) CHD. Unfortunately, non-cyanotic CHD may not be detected early in life.

Imaging tests like chest X-rays, echocardiograms and electrocardiograms can confirm a CHD diagnosis; genetic testing is also needed to identify the underlying cause and counsel the family about recurrence in future pregnancies.          

Congenital Heart Disease Treatment 

Simple types of CHD, like a small VSD, ASD or PDA, may close on their own, whereas complex CHD cases require surgical correction. Additionally, medicines are used to control or prevent heart failure.


Aortopathy is a term for conditions of the aorta, including aortic dilation, aneurysms and dissections. These conditions can involve an abnormal size and shape of the aorta, which can be seen on imaging tests. Aortopathy can be an isolated health problem or part of a systemic connective tissue disorder.             

Connective Tissue Disease

Connective tissue is made up of hundreds of proteins that together maintain the form of the body and its organs. Connective tissue is found in skin, cartilage, bone and the walls of vessels like the aorta. Many types of hereditary connective tissue disorders exist, including Marfan syndrome and Ehlers-Danlos syndrome. Genetic testing can detect most familial connective tissue disorders.

Connective Tissue Disease Causes and Risk Factors

The main causes and risks include:

  • A connective tissue disease-related gene mutation in a close (first-degree) relative  
  • A family history of aortopathy or connective tissue disorder
  • A significant aortic dilation or aneurysm
  • Physical signs of connective tissue disorders, such as pectus deformity, scoliosis, long extremities, severe joint laxity or spontaneous pneumothorax

Connective Tissue Disease Symptoms

Aortopathy may or may not cause symptoms of chest pain, shortness of breath and dizziness. If not recognized, a sudden rupture of an aortic aneurysm can be fatal, so it’s critical to get help immediately.

The external signs and symptoms of connective tissue disorders may vary significantly within the same family. Only genetic testing can firmly confirm the diagnosis in such family members without clear signs of the diagnosis.

Connective Tissue Disease Diagnosis and Treatment

Diagnosis and treatment steps include:

  • Cardiovascular imaging and genetic testing are used to confirm the diagnosis of hereditary aortopathy or connective tissue disease
  • Medical therapy is used first to control and treat aortopathy or scoliosis                                          
  • Supportive care is used to manage connective tissue disorders                                                
  • Surgical correction of aortopathy or scoliosis is usually recommended if medical therapy isn’t effective

Familial hypercholesterolemia and elevated lipoprotein (a) are both genetic factors that increase the risk of developing atherosclerotic heart disease.

Familial Hypercholesterolemia

A genetic condition passed down at birth, familial hypercholesterolemia involves genetic mutations that cause high LDL, or “bad,” cholesterol levels. If left untreated, high LDL cholesterol increases the risk of heart attacks, stroke and even death at much younger ages than the general population.

Familial Hypercholesterolemia Symptoms

Physical signs of extremely high cholesterol include bumps on the skin and a white ring around the eye corneas.

Familial Hypercholesterolemia Diagnosis and Treatment

Blood tests can help evaluate cholesterol levels. Genetic testing can sometimes identify the mutation that leads to the abnormal values and can help determine the best types of therapy and other family members affected. Treatment options can include lifestyle changes, medications that lower LDL cholesterol levels and a procedure called apheresis, which removes cholesterol buildup.

Elevated Lipoprotein (a)

Lipoprotein (a) levels are passed down in families. People who have elevated levels of lipoprotein (a) have a greater risk of a heart attack, stroke, narrowing of arteries in the legs and aortic valve stenosis at an early age.

Elevated Lipoprotein (a) Symptoms

Signs that you and your family may have elevated lipoprotein (a) include an elevated LDL over 190 mg/dl, having familial hypercholesterolemia and having first-degree family members who had a heart attack or stroke at an early age.

Elevated Lipoprotein (a) Diagnosis and Treatment

A diagnosis is made by measuring the blood's lipoprotein (a) levels. Currently, genetic testing for this condition does not add to the diagnosis or treatment strategy. Lifestyle modification and some cholesterol-lowering medications may lower the risk of developing cardiovascular disease.

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

Amyloidosis 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.

Amyloidosis 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

Amyloidosis 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.

Woman looking at a test tube in a lab.

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.

Call Us at 407-303-7108 Email Us

Learn What to Expect With Genetic Testing 101

There are many reasons why your health care provider might order genetic testing. In this comprehensive video, genetic counselor Amanda Caceres explains how clinical genetic testing works, and how it can detect inherited causes of disease, help inform your treatment plan for a particular condition, and much more.

Meet Our Experts in Hypertrophic Cardiomyopathy

Marcos Hazday, MD, FACC
Director of HCM Center of Excellence
Naveen Bellam, MD, MPH
Co-Director of HCM Center of Excellence, Transplant Cardiologist
Dr. Kevin Accola, MD
Cardiothoracic Surgeon
Dr. George Monir, MD
Dr. Patricia Guerrero, MD
Dr. Rajesh Shah, MD
Interventional Cardiologist

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