Once ATTR-CM is suspected, your doctor can perform several tests to help diagnose the disease or identify whether you or a loved one are at risk.

The next step is for your doctor to rule out another form of cardiac amyloidosis, known as light chain amyloidosis (AL), by assessing blood and urine tests. This is an important step, as AL amyloidosis and ATTR-CM have a very different clinical course. After ruling out AL amyloidosis, your doctor may utilize one or both of the following tests to diagnose the disease.

Nuclear Scintigraphy

This noninvasive imaging test can be used to detect ATTR-CM. During the test, a small amount of a radiotracer is injected, and after waiting for one to three hours, images are taken using a gamma camera, a special camera that can read emissions from the radiotracer. These images can help your doctor understand if transthyretin (TTR) amyloid fibrils are present in your heart.

Cardiac Biopsy

This procedure involves taking a few small samples of heart muscle tissue for examination. A cardiologist conducts the biopsy while you’re awake, using a local anesthetic. If amyloid fibrils are found in the removed tissue, the tissue is sent out to a lab to determine whether they are TTR amyloid fibrils or another type of cardiac amyloidosis. Biopsies from other parts of the body may also be taken, but they are less accurate in detecting ATTR-CM.

Genetic Testing

Once ATTR-CM is diagnosed, genetic testing and counseling are recommended. Genetic testing can confirm or rule out the hereditary form of ATTR-CM (hATTR), which may have implications for not only you as the patient but your family members as well. Genetic tests typically use a blood or saliva sample.

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