Genetic Heart Disease in Adults

If someone in your family has a genetic heart condition or experiences sudden cardiac death, even if you have not experienced any symptoms, you should be tested for similar inheritable conditions. In cases where there is no known family history, genetic heart disease may be suspected first by your primary care doctor or cardiologist upon hearing a heart murmur, detecting an irregular heartbeat, or learning you have experienced unexplained fainting, dizziness, chest pain, heart palpitations, or trouble breathing. We work with you to ensure you receive individualized care that takes into account your current health status. 

Genes play an important part in determining who is at risk for certain types of heart disease. At Duke, we offer highly specialized genetic testing to identify:

• Inherited heart disorders such as certain arrhythmias, cardiomyopathies, aneurysms, connective tissue disorders (like Ehlers-Danlos, Loeys-Dietz, and Marfan syndromes), or a family history of sudden death or very high cholesterol levels.
• Genes or genetic mutations that are linked to increased risk of heart disease.
• Genetic conditions that could increase your child's risk of having a congenital heart disease or a heart defect.

Our specialized cardiologists collect a thorough medical and family history, perform a physical exam, and order testing that may include:

Electrocardiogram (ECG)
Electrodes are placed on your chest to record the heart's electrical function.

Echocardiogram (Echo)
Sound waves produce moving images so doctors can evaluate your heart structure and function.

CT and MRI Scans
Machines capture images of your heart’s overall structure, muscle function, and blood vessels.

Stress Test
You will be asked to exercise on a treadmill while your heart function is recorded with electrocardiography and blood pressure monitoring.

Event Monitoring
You will be fitted with a 24-hour wearable heart monitor that will record heart activity and abnormalities over the course of a day.

Advanced Heart Disease Detection
Duke is one of a limited number of centers offering individual genetic studies to discover genetic heart disease. Through a simple blood draw, our researchers can extract blood cells, revert them into stem cells, and then direct them to grow into heart cells. By observing these cells as they mature, researchers can learn more about what genetic components may be causing heart problems. 

Genetic Testing
Blood and/or saliva samples are analyzed to examine your DNA and determine whether you carry a gene or a genetic mutation that could increase your risk for an inherited heart condition. We personalize our testing to each individual we see.

Genetic Counseling
Your genetic counselor and your doctor will discuss with you the results of your genetic testing, any concerns you have, and appropriate next steps.

Depending on your condition and the results of your genetic testing and genetic counseling, your treatment options may include a follow-up visit and screening plan to monitor any disease progression. Additional treatments may include:

Medications
Medicines for arrhythmias include those that slow your heart rate, stabilize irregular heartbeats, and reduce the effects and risks of an abnormal heartbeat. Other medications can help lower your blood pressure and cholesterol levels and improve blood flow to the heart. 

Transcatheter Therapies
Certain genetic heart disorders can be treated using minimally invasive catheterization procedures, like transcatheter valve implantation, rather than open surgery.

Cardiac Ablation
This catheterization procedure uses energy to destroy tiny areas of the heart muscle that produce an arrhythmia.

Implantable Devices 
Surgically implantable cardioverter defibrillators (ICDs) or pacemakers can help regulate your heartbeat by detecting irregular heart rhythms and delivering electricity to shock the heart back into a normal rhythm. Ventricular assist devices can help your heart circulate blood and are a common step before heart transplantation.

Heart Surgery
Many different surgical procedures are available, depending on the type and extent of your heart disease. These include surgeries like heart defect repair, septal reduction surgery (myectomy), valve repair or replacement, and more.

Heart Transplant
In rare cases, your best treatment option may be a heart transplant.

Leading Genetic Heart Disease Researchers
Our doctors are nationally recognized for their involvement in discovering genes linked to early-onset heart disease and sudden cardiac death, and for accurately identifying inherited heart disease and people who are most likely to benefit from certain treatments. Our participation in the latest research regarding how genes influence heart disease ensures we are up to date on, and you have access to, the most advanced treatments available. You may be eligible to participate in clinical trials that give you access to new therapies.

Comprehensive Services
Our cardiologists specialize in treating inherited heart conditions, including familial dilated cardiomyopathy, inherited clotting disorders (such as Factor V Leiden), and a family history of sudden cardiac death or heart attack. Our genetic counselors partner with you to identify and manage your risk for inherited heart disease. They work closely with cardiologists, including electrophysiologists, on conditions like inherited arrhythmia that are caused by abnormal electrical activity in the heart