The key to treating cardiac amyloidosis and preventing lasting heart damage is to diagnose the heart disease early. Cardiac amyloidosis is a progressive disease, meaning it worsens over time. Catching and treating the condition early is crucial to slowing it down and protecting heart function. If you’ve noticed new or worsening signs of cardiac amyloidosis, it’s time to make an appointment with your doctor. The sooner you start treatment, the better your outcomes.

In this article, we’ll discuss how doctors diagnose cardiac amyloidosis, including blood and imaging tests. Diagnosis and management often involve a team of specialists, including cardiologists, hematologists, and genetic counselors, working together to give you the best care possible for your condition. We’ll also cover the importance of genetic testing so your family members can better understand their risks.

Physical Exam and Medical History

Your doctor will start by performing a physical exam and taking your medical history. Be sure to tell them about your cardiac amyloidosis symptoms. These can include:

• Shortness of breath
• Buildup of fluid in your abdomen, known as ascites
• Swelling in your lower legs, ankles, and feet
• Fainting episodes from low heart rates or heart block, which interferes with your heart’s electrical system

Your doctor will check your body for signs of swelling. They’ll also listen to your heart for arrhythmias (abnormal rhythms) with a stethoscope.

Several types of amyloidosis can affect the heart. The type of amyloidosis you have helps your doctor decide how to diagnose and treat it. One type of amyloidosis — called hereditary transthyretin (hATTR) amyloidosis — passes down through family members. Be sure to let your doctor know if you have a family history of hATTR amyloidosis. This could affect which tests they use in your diagnosis.

If your doctor thinks you may have cardiac amyloidosis, they’ll start by running some laboratory tests and an electrocardiogram (ECG or EKG). Keep reading to learn more about these tests and others used to diagnose cardiac amyloidosis.

Blood Tests

Laboratory tests measure the levels of certain proteins that change in people with cardiac amyloidosis. Some tests look at heart-specific proteins, while others check for organ damage associated with the disease. Blood tests alone can’t confirm a diagnosis, but they help give a better understanding of the overall picture.

Troponin

Troponin is a protein found in heart muscle cells. There are two types of troponin — T and I. Normally, troponin stays in the heart muscle and isn’t found in blood. However, damaged muscle cells release the protein into your bloodstream. Doctors measure troponin to look for heart damage from cardiac amyloidosis. High troponin T and I levels may mean you have some injured muscle tissue.

Natriuretic Peptide

Another blood test for diagnosing cardiac amyloidosis measures your natriuretic peptide levels. The heart and blood vessels make these proteins. People with heart failure and damage — including those with cardiac amyloidosis — tend to have higher natriuretic peptide levels than those without.

Monoclonal Protein

Amyloid light chain (AL) amyloidosis develops in people whose bodies make abnormal immune proteins. Specifically, the light chain proteins come from plasma cells, which produce your infection-fighting antibodies. In light chain amyloidosis, abnormal light chain proteins clump together and deposit in your organs. Doctors and researchers refer to them as monoclonal protein.

An important part of diagnosing AL amyloidosis is measuring monoclonal protein levels. These levels show whether your body is making too much of one kind of antibody, which can be a sign of certain diseases like AL amyloidosis. If you have monoclonal proteins from a blood test with abnormal heart imaging, you likely have AL amyloidosis. There’s also a chance you have ATTR amyloidosis, but it’s less likely.

Genetic Testing

If you have a family history of amyloidosis or cardiac amyloidosis, your doctor may recommend genetic testing. This is because certain types — like hATTR amyloidosis — are passed down through family members. On the other hand, wild-type amyloidosis is not inherited but can develop as you age.

Your doctor will collect a small blood or saliva sample and send it to a lab. This test looks for gene changes or variants in your DNA. Some changes are associated with hATTR amyloidosis. Genetic testing can also determine which therapies may work best for you.

Electrocardiogram

An ECG measures your heart’s electrical activity. It specifically looks at your heart rhythm and heartbeat.

An ECG is a simple test that uses small patches and electrodes placed on your body. The technologist may apply up to 12 patches in different places, including your chest, arms, and legs. They’ll then connect wires to a machine that measures your heart’s rhythm as it beats.

The readout from the ECG tells your cardiology team about your heart health. For example, people with cardiac amyloidosis often have atrial fibrillation (AFib). This condition develops when the heart’s atria (upper chambers) beat out of rhythm with the lower chambers. AFib is a type of arrhythmia, or an irregular and often rapid heart rhythm.

Echocardiogram

An echocardiogram is an ultrasound test that creates images of your heart. It uses sound waves that bounce off the heart’s tissues and are read by a sensor. Doctors use echocardiograms to look at how blood flows through your heart.

People with cardiac amyloidosis have specific changes to their heart muscle that can be seen with an echocardiogram. For example, your provider may see thickening in certain places within your heart tissue. Your echocardiogram may look different depending on the type of cardiac amyloidosis you have. Studies show that there are some notable differences between ATTR amyloidosis and AL amyloidosis.

Cardiac MRI

A cardiac MRI uses a powerful magnetic field with radiofrequency waves to create detailed, three-dimensional pictures. Doctors use cardiac MRI scans to:

• Look for tissue damage and heart muscle diseases
• Measure how well blood can flow through the heart’s chambers and blood vessels
• Note any abnormalities in the heart’s structure or function
• Find any problems with the heart’s valves (tissue flaps) that control blood flow

Cardiac MRI is considered one of the key tests for diagnosing cardiac amyloidosis. Your provider will likely inject a special dye called contrast into your vein to make your heart tissues stand out in the pictures. This test helps look for changes in the heart’s left ventricle. The left ventricle is the heart chamber that pumps oxygenated blood out of your heart to the rest of your body.

Studies show that cardiac MRI can find signs of amyloidosis before the heart tissue changes.

Cardiac PYP Scan

A cardiac PYP scan is also called bone tracer cardiac scintigraphy. Cardiac PYP scans use a radioactive form of PYP — pyrophosphate — that accumulates in areas with amyloidosis. These scans not only diagnose cardiac amyloidosis but can also diagnose the type of amyloidosis and how severe it is.

During a cardiac PYP test, your provider will inject a small amount of radioactive PYP into a vein. The PYP travels through your bloodstream and collects in areas with amyloid protein clumps. Your provider then uses a special camera to visualize where the radioactive PYP proteins are. The camera collects information from two types of pictures:

• CT takes images of your heart muscle and tissues.
• Single-photon emission CT (SPECT) shows where the radioactive PYP is within your heart.

During the SPECT and CT scans, you’ll need to lie very still. The camera takes images and creates a three-dimensional model of your heart. Your provider will look at the images and model to diagnose cardiac amyloidosis. Your body breaks down the radioactive PYP over time — most of it leaves your body as urine or stool.

Endomyocardial Biopsy

In some cases, your doctor may order an endomyocardial biopsy. In this procedure, a doctor will remove a small piece of heart tissue to look for amyloid deposits. A specialist looks at the tissue under a microscope using special chemicals to color the proteins. This is a more invasive procedure, and you may not need a biopsy if the other tests successfully diagnose your cardiac amyloidosis. Your doctor will let you know if this test may be useful.

The Bottom Line

Diagnosing cardiac amyloidosis often involves several tests and a team of specialists. While the process may seem involved, finding the condition early can help protect your heart and improve your health. If you have symptoms or a family history of amyloidosis, talk to your doctor about what kind of testing may be right for you.

Find Your Team

On MyAmyloidosisTeam, the social network for those living with amyloidosis, members come together to discuss life with amyloidosis and share their experiences.

Have you received a cardiac amyloidosis diagnosis? What tests did your doctor use to diagnose your condition? Share your experience in the comments below, or start a new conversation on your Activities page.