Cardiac Amyloidosis Diagnosis & Screening

Early diagnosis offers the best chance for managing amyloidosis so it doesn’t progress into a serious or fatal condition. Common symptoms of cardiac amyloidosis include:

• Abdominal swelling
• Chest pain 
• Dizziness
• Fatigue
• Heart palpitations
• Swelling of the extremities

If you are experiencing any of these symptoms, contact your physician. If amyloidosis is suspected, our cardiology experts at the University of Chicago Medicine will perform tests to verify your diagnosis. Our diagnostic services include:

• Magnet resonance imaging (MRI) results in detailed pictures of the beating heart, allowing physicians to determine if there is any damage to the heart muscle.
• Echocardiogram is a noninvasive test that provides three-dimensional information about your heart's structure, movement and blood flow.
• Right heart catheterization is a procedure performed in the cardiac catheterization lab that enables physicians to measure the pressure and output of the heart.
• Cardiac biopsies are performed using catheterization to obtain samples of heart tissue for further examination and analysis. This is a minimally invasive procedure in which our skilled cardiologists guide a thin tube through a vein (typically in your neck or groin) into your heart. A small tool on the catheter is used to collect tissue to be tested for signs of amyloid.

Genetic Testing for Early Management

If you are diagnosed with hereditary TTR amyloidosis, UChicago Medicine offers free genetic testing for your family in order to identify any additional members who may have the disorder. During genetic testing, we collect a sample of blood from each family member for evaluation in order to identify any mutations in the DNA that could cause amyloidosis.

As many as 60 percent of those with a family history of amyloidosis will develop the condition. By proactively testing the family, our specialists hope to identify undiagnosed individuals and begin treatment early, when it is most effective.