Exams and Tests

Cardiac amyloidosis can be hard to diagnose. But finding it early can help limit heart damage, and improve quality of life and longevity. Specific tests done and interpreted together are needed to find out whether someone has cardiac amyloidosis and, if so, then which protein is involved – light chain proteins or transthyretin.

Your care team will:

• Review your symptoms, and your personal and family health history
• Perform a physical exam
• Order a series of imaging and blood tests to try to confirm or rule out cardiac amyloidosis, for example:
• Blood and urine tests that look for certain proteins and can help determine if it’s AL or ATTR amyloidosis
• Imaging tests, including a nuclear scan – technetium pyrophosphate (PYP) or hydroxymethylene diphosphonate (HMDP) – with SPECT can be used instead of biopsy in some cases. But these cannot be interpreted without blood tests that look for monoclonal proteins.
• You may have started off with an:
• Echocardiogram to look at the structure and pumping ability of the heart and to check for signs of unusual thickening of the heart muscle wall
• ECG to see the electrical activity of the heart given that heart rhythm problems are common
• Cardiac MRI

In some cases, depending on the lab results and imaging tests, your doctor may decide to perform a biopsy. Sample tissue from your heart muscle or another area is taken to help confirm a diagnosis.

Genetic testing is recommended in anyone who’s diagnosed with ATTR to know if there is a genetic reason for the disease. It’s also often done if ATTR is suspected to be passed down in the family – for example, if signs begin at earlier ages and/or if the person has a lot of nerve issues.