Inherited Heart Disease Services

Inherited heart disease is a genetic disorder passed down from parents to children. These genetic variants can cause problems in how your heart is structured and functions.

If you want to learn more about your family history of heart disease or understand the impact your diagnosed heart condition could have on future generations, UPMC’s inherited heart disease experts can help.

Our heart doctors and genetic counselors:

• Work side-by-side to diagnose, treat, and manage a wide range of genetic heart diseases.
• Work with you to design a complete treatment plan.
• Provide genetic testing for your family members.

What Is Inherited Heart Disease?

Inherited heart diseases are genetic heart conditions passed from parents to children. UPMC specializes in testing and caring for people with genetic diseases of the heart and blood vessels.

A regional and national leader in heart and vascular disease genetics, we offer:

• Complete testing for heart disease.
• Access to leading-edge diagnostics.
• Advanced treatments for all forms of inherited heart and vascular diseases.

What conditions do you treat?

Our doctors at UPMC treat genetic heart diseases including:

• Arrhythmogenic right ventricular dysplasia.
• Brugada syndrome.
• Hypercholesterolemia.
• Hyperlipidemia.
• Hypertrophic cardiomyopathy.
• Dilated cardiomyopathy.
• Left-ventricular non-compaction (LVNC) cardiomyopathy.
• Familial lipid syndrome.
• Marfan syndrome.

Our care extends beyond people diagnosed with genetic cardiovascular disease. We also care for family members at risk for developing these conditions because they are present in relatives.

What Inherited Heart Disease Services Does UPMC Offer?

We're dedicated to helping patients — and their at-risk relatives — live longer, healthier lives by providing diagnostic tests for heart disease, personalized treatment services, and assistance with every aspect of care. Our services include:

Inherited heart disease diagnosis

We offer diagnostic testing, including:

• Echocardiogram (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.
• Electrocardiogram (ECG or EKG) — This test records the electrical activity of your heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and can sometimes detect heart muscle damage.
• MRI scans — MRI is a diagnostic procedure that combines large magnets, radio frequencies, and a computer to produce detailed images of organs and structures within your body.
• Molecular genetic testing — Tests tissue, blood, or other body samples for genes, proteins, or other molecules that may indicate heart disease.
• Nuclear cardiology — Measures blood flow to the heart at rest and after activity. A small amount of radioactive material is injected into your arm, and a special camera scans your heart.

Treatment for inherited heart disease

• Cardiac surgery, including septal myectomy.
• Heart valve surgery.
• Heart failure management.
• Interventional cardiology.

Genetic counseling

We offer comprehensive genetic counseling services designed to assess and manage the risks of inherited heart disease for our patients and their family members.

What Can I Expect From Inherited Heart Disease Services?

Our team of inherited heart disease experts will create a comprehensive plan to manage your condition and reduce your risk of complications.

Before your visit

To prepare for your visit, you will be asked to provide:

• Name, address, and contact phone number.
• Insurance information.
• Relevant medical records and test results.
• A referral, if required by your health insurance company.

If you get a referral from your primary care doctor or another physician, they may be able to provide your test results and medical records to our team.

During your visit

You'll meet with a doctor, nurse practitioner, or physician assistant when you arrive for your first appointment. He or she will ask about your medical history, family history and perform an exam.

We'll give you a:

• A complete explanation of your condition and treatment.
• A tailored patient education packet for you to take home.

Your health care provider will explain your treatment options based on how long you've had symptoms, your condition, and your family and health history.

Together, you will design and agree on a care plan.

Your care team may also:

• Order diagnostic or screening tests.
• Schedule a procedure in the hospital.
• Recommend genetic counseling for you or your family members.

After your visit and treatment

Our team will schedule follow-up appointments to monitor your condition. You should contact our office if:

• You have questions about your treatment plan or medications.
• Your symptoms get worse or do not improve as expected.
• You have any other concerns about your condition.

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Last reviewed by a UPMC medical professional on 2024-10-01.