Genetic Heart Disease in Adults

Conditions We Treat

Inherited heart disorders, such as certain types of:

• Aneurysms
• Aortopathy
• Arrhythmia
• Cardiomyopathy (including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy) 
• Connective tissue disorders (like vascular Ehlers-Danlos, Loeys-Dietz, and Marfan syndromes)
• Inherited lipid disorders

If you haven’t yet been diagnosed with genetic heart disease, your evaluation at Duke will consist of three main steps. If you have already been diagnosed, you may be able to skip step one.

Step 1: Preliminary Tests

You may need to undergo the following tests before meeting with your cardiologist.

• Electrocardiogram (ECG): Electrodes are placed on your chest to record the heart's electrical function.
• Echocardiogram: 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: A 24-hour wearable heart monitor will record your heart activity over the course of a day or more.

Step 2: Clinic Visit with Cardiologist and Genetic Counselor

Your cardiologist and a genetic counselor will meet with you together for an extended clinic appointment. They will discuss your preliminary test results, review your medical and family history, perform a physical exam, and discuss whether genetic testing is recommended.

• Medical and Family History: We will review your medical history and ask about relatives whose heart problems or sudden deaths could be tied to genetic heart disease. It’s helpful to have a rough family tree mapped out ahead of time, and we encourage you to bring any potentially relevant information, including existing genetic test results, about your or your relatives’ health.
   
• Physical Exam: Some genetic heart diseases have physical signs that point to a specific diagnosis. A thorough physical exam can identify these as well as other relevant physical factors.
   
• 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 is linked to genetic heart disease or could increase your risk for an inherited heart condition.
   
• In more advanced testing and for research purposes, blood cells can be extracted, reverted into stem cells, and then directed 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.

Step 3: Genetic Test Results and Next Steps

It usually takes between two and four weeks for genetic test results to return. Once they have, a genetic counselor and cardiologist review your results, share them with you, and answer any questions you have. Then they’ll discuss 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 (VADs) 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.