Genetic, or hereditary, heart diseases are conditions that run in families. These disorders are passed to children through a parent’s genes. In some cases, these genetic heart conditions are diagnosed in childhood, but they can also be diagnosed later in life.
UPMC is a regional and national leader in cardiovascular genetics. We offer comprehensive tests for heart disease, access to leading-edge diagnostics, and advanced treatments for all forms of inheritable heart and vascular diseases.
What Is Genetic Heart Disease Testing?
Genetic heart disease tests are screening exams that help your doctor determine whether you have a genetic heart condition — often before symptoms or complications develop. If a member of your family is diagnosed with a genetic heart condition, your doctor may recommend that you have genetic heart disease tests to see if you also have the condition.
Types of genetic heart disease tests
Genetic heart disease tests include:
- Echocardiography (ECHO) — This noninvasive ultrasound test uses sound waves to evaluate your heart's chambers and valves. The ECHO sound waves create an image on a monitor as an ultrasound transducer is passed over your heart.
- Electrophysiological testing — Cardiac electrophysiology tests map the electrical activity within your heart.
- Magnetic resonance imaging (MRI) — MRI is a diagnostic procedure that uses a combination of large magnets, radio frequencies, and a computer to produce detailed images of organs and structures within your body.
- Molecular genetic testing — Molecular genetic testing examines tissue and blood samples to check for signs of hereditary conditions.
- Nuclear cardiac imaging — Nuclear cardiac imaging measures blood flow to your heart at rest and after activity.
Your doctor may also recommend that you have:
- Cardiovascular disease risk identification for relatives — Your doctor will make recommendations that may prevent or minimize future health problems for family members.
- Genetic counseling — Genetic counseling involves meeting with an expert in genetic disorders who will help you understand the impact of your family health history.
- Risk stratification for sudden cardiac death — Your doctor will recommend a treatment plan to reduce your risk of life-threatening complications.
Conditions we diagnose with genetic heart disease testing
UPMC doctors treat the following genetic heart diseases:
What is the most common genetic heart condition?
Inherited cardiomyopathies are the most common genetic heart condition.
Why Would I Need Genetic Heart Disease Testing?
If a member of your family is diagnosed with a genetic heart condition, your doctor may recommend that you have genetic heart disease tests to see if you also have the condition.
Who’s a candidate for genetic heart disease testing?
You may be a candidate for genetic heart disease testing if you have a family member — such as a parent, grandparent, sibling, uncle, aunt, niece, or nephew — who has been diagnosed with a genetic heart condition putting you at risk of developing the condition.
What Are the Risks and Complications of Genetic Heart Disease Testing?
Genetic heart disease testing procedures are safe, noninvasive methods of assessing your heart's function. Like any medical procedure, there are some risks. However, the risks associated with genetic heart disease tests are minimal and complications are rare.
What Should I Expect From Genetic Heart Disease Testing?
Before: How to prepare for genetic heart disease tests
Tell your doctor about all of the medicines you take and ask if you should make any changes to your medicines or to your diet before the test. You will receive instructions before your scheduled test, including:
- You may be told not to eat anything for several hours before the test.
- You may be told not to have any nicotine or caffeine products for 24 hours before the test.
- Wear comfortable clothing and walking shoes.
- Do not use powders or lotions on your chest area on your test day.
- Bring all of the medicines you take with you to the test.
- Tell your doctor if there is a chance you could be pregnant.
How long does genetic heart disease testing take?
How long your test takes will depend on the type of test you are having. Generally, genetic heart disease tests take between 30 minutes and a few hours.
During your genetic heart disease test
Depending on the type of test you are having, your genetic heart disease test will take place in a lab or imaging suite. Your technologist will monitor your heart’s activity or take images, and the results will be sent to your doctor for review.
Recovery after your genetic heart disease test
After completing your test, you can resume your normal activities immediately. Your doctor will provide you with specific instructions for your recovery depending on the type of test you have. If you are feeling well, you should be able to drive yourself home after your test.
When to call your doctor about genetic heart disease test complications
You should call your doctor if you experience any complications after your genetic heart disease test, including:
- Abnormal heart rhythms (arrhythmias).
- Blood pressure fluctuations during or after exercise.
- Chest pain.
- Flushing sensation.
- Headache.
- Nausea.
- Rapid heart rate.
- Shortness of breath.
- Stomach pain or pressure.
- Vomiting.
Why Choose UPMC for Genetic Heart Disease Testing?
UPMC experts specialize in testing and caring for people with inherited diseases of the heart and blood vessels.
A regional and national leader in cardiovascular genetics, we offer comprehensive tests for heart disease, access to leading-edge diagnostics, and advanced treatments for all forms of inheritable heart and vascular diseases.
Last reviewed by a UPMC medical professional on 2024-10-01.
