If you and your family are at risk for inherited heart disease, it's important that close relatives get tested. Evaluation at the Penn Center for Inherited Cardiovascular Disease can identify which family members are affected and each person's future risk for heart problems.

Diagnosing Inherited Heart Disease: The Penn Medicine Advantage

Whether you already know that an inherited cardiac disease runs in your family or are trying to rule one out, accurate diagnosis and testing can help you prevent future complications and stay healthy. When you and your family visit the Center for Inherited Cardiovascular Disease, you'll find:

  • Specialists in familial heart problems: All of our physicians and nurses specialize in inherited heart conditions. Patients travel to Penn from all over Pennsylvania, New Jersey, Delaware, Maryland — and beyond — for diagnosis from our expert team.
  • Diagnostic expertise: Inherited heart disease can be difficult to detect and diagnose. The symptoms often look like those of other health problems. Our team includes highly trained and skilled physicians, nurses and genetic counselors with specialized training and years of experience. They spot the signs of inherited cardiac disease that are subtle.
  • Cutting-edge genetic testing: We used advanced genetic testing to look for changes in genes that can cause heart disease in families. These tests help us determine who may develop disease or pass it down.
  • Advanced diagnostic tools: Penn has every advanced technology to look at the structure and function of your heart. We can often identify effects of inherited cardiac disease even before you have symptoms. Thorough understanding of how the condition affects you helps us develop a customized treatment plan.
  • Long-term follow-up: Our team develops a plan to monitor your heart over time, so we catch problems before they cause symptoms or complications. We'll follow you and multiple generations of your family for early signs of disease.
  • Help for future generations: If you're pregnant or planning to have children, we help you understand the role of inherited heart disease. Our pediatric and pregnancy genetic heart disease care includes prenatal testing to monitor your baby's heart and assess the chances that you'll pass down a heart condition.

Tests for Genetic Heart Disease: What to Expect

At the Center for Inherited Cardiovascular Disease, our experts have access to the most advanced diagnostic tools for hereditary heart conditions. We have the experience to choose the right tests to determine whether you have heart disease and what's causing it.

Your family's testing might include:

  • Medical interview and physical exam: We ask you detailed questions about your medical history and your family's history. Then we conduct a thorough exam.
  • Blood tests: Lab tests can measure how your heart condition may be affecting your kidney function, liver function and electrolytes. In addition, we can measure markers released from the heart into the blood when the heart is under stress or injured.
  • Cardiac catheterization: This test can measure pressures in your heart and lungs to see how much blood your heart is pumping to your body.
  • Cardiac magnetic resonance (CMR) imaging: CMR imaging provides detailed pictures of the heart.
  • Coronary angiography: This test takes images of the coronary arteries (blood vessels) to see if they are diseased.
  • Echocardiogram (echo): This test uses sound waves to take pictures of the heart's structure.
  • Electrocardiogram (ECG): This test records the electrical impulses in the heart and can detect any abnormal patterns in rate or rhythm.
  • Electrophysiology study: An electrophysiologist inserts a thin tube through a blood vessel and into the heart to measure electrical activity.
  • Genetic testing: Genetic testing can identify changes in DNA that may cause heart disease. Genetic counseling for heart disease before testing will help you decide whether genetic testing is useful for you and what the results could mean. A trained genetic counselor can help you understand the process and what the results might mean for you and your family.
  • Holter monitor: This is a wearable device that monitors the heart's electrical activity as you go about your daily activities.
  • Stress test: Also called an exercise test, this measures heart function while you're walking or running on a treadmill.

Based on your test results, our team will decide whether you should be monitored over time or treated. Read more about treatment of inherited cardiac disease.

Make an Appointment

Please call 800-789-7366 or request a callback.

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