Managing ATTR-CM care

Diagnosing ATTR-CM

There are multiple different tests that help doctors diagnose ATTR-CM, which can feel overwhelming. Learning more about what each test is for could help you to prepare for these checks and understand why they are needed.

“It’s not a clear path to diagnosis for everyone. If people know more about the disease, maybe they can get diagnosed earlier.” – Moderator of online support group

“Many people ask what the process is, because they’ve been feeling unwell for a long time and don’t know what it is.” – Moderator of online support group

How is ATTR-CM diagnosed?

Getting an early diagnosis is very important, as it helps your doctor to decide on the most appropriate treatment and care plan to manage your symptoms and protect your organs. If you have signs, symptoms, or red flags of amyloidosis, your doctor will carry out tests to see if you have the condition, and if so, what type. You can learn more about the red flags of ATTR-CM here.

“I was diagnosed with ATTR-CM a couple of years ago. It took a while to get the right diagnosis.”

Person living with amyloidosis

Each test provides different clues that point to ATTR-CM. Blood and urine tests measure protein levels. An ECG can reveal weaker electrical signals in the heart. An echocardiogram can show thickening of the heart walls, while an MRI scan may show scarring or damage to the heart walls.

Initial tests (before diagnosis)

To begin with, your doctor will carry out tests to see how well your organs are working and measure the levels of different proteins in your body. Proteins are building blocks of the body that help make up important parts of our cells, tissues, and organs. Together, they help to maintain normal bodily functions and are essential for the structure, growth, and repair of your body.

These tests may include:

Blood and urine tests to measure protein levels in your body
Electrocardiogram (ECG): A type of test to check your heart’s rhythm and electrical signals
An echocardiogram: A type of scan that uses sound waves to image your heart, to show its size and shape, and the flow of blood within it
Magnetic resonance imaging (MRI): A medical imaging technique that uses strong magnetic fields and radio waves to create detailed images of the inside of the body

“It’s not a clear path to diagnosis for everyone. Some people talk about an MRI, and others talk about bone scintigraphy. If people know more about the disease, maybe they can get diagnosed earlier.”

Moderator of online support group

What other tests are needed to diagnose ATTR-CM?

For most people, ATTR-CM can be diagnosed with a test called DPD (or 3,3-diphosphono-1,2-propanodicarboxylic acid) scintigraphy to look for ATTR amyloid deposits in the heart. This involves:

Injecting a small amount of radioactive dye (containing DPD) into your bloodstream. This type of dye is called a tracer
This tracer travels around your body and attaches to any ATTR amyloid deposits in the heart
Dyed amyloid deposits are then visible on a scan, showing doctors whether you have ATTR-CM or not
It only exposes you to very low levels of radiation for a short period of time, similar to having an X-ray

“Scintigraphy is a nuclear medicine test where a tracer is injected through the vein. What we do is take some cardiac images through a special machine called a gamma camera, which captures the radiation of the radiotracer. It is a minimally invasive procedure, and the radiotracer is eliminated through the urine. The amount of radiation used is limited so it is not dangerous for the patient or relatives.”

Pablo Garcia-Pavia, Head of the Inherited Cardiac Diseases and Heart Failure Unit, Madrid

However, some people may also need a biopsy to check for amyloid deposits and diagnose amyloidosis. A biopsy is a medical procedure that involves taking a small sample of tissue or cells for examination under a microscope.

Your doctor will also want to rule out a different type of amyloidosis called AL amyloidosis using simple blood and urine tests that look for abnormal proteins, called light-chain proteins, associated with this type. You can learn more about the different types of amyloidosis here.

What happens after an ATTR-CM diagnosis is confirmed?

Once ATTR-CM is confirmed, doctors will carry out some more tests to find out what caused your amyloidosis. This usually requires genetic testing that involves:

Taking a blood or saliva sample
Giving the sample to a scientist who checks your DNA to see if you have a gene change linked to variant-type ATTR-CM (vATTR-CM)

This test helps doctors know whether your ATTR-CM is variant-type (passed down the family tree) or wild-type (develops later in life and is not inherited).

If you are diagnosed with vATTR-CM, other family members may also be at risk of carrying the affected gene that makes the transthyretin (TTR) protein break apart into pieces, leading to ATTR-CM. Direct family members such as parents, siblings, and children may also carry the gene if one individual is affected. Because of this, your doctor may recommend that some family members consider genetic testing to identify who carries the gene and whether they may need monitoring or care in the future.

Watch this 1 minute 16-second video with Pablo Garcia-Pavia to learn about echocardiography.

Pablo Garcia-Pavia is the Head of the Inherited Cardiac Diseases and Heart Failure Unit at Hospital Universitario Puerta de Hierro, Madrid, Spain.

Transcript

Echocardiography is a medical imaging test that we have in the hospitals in order to evaluate the structure and function of the heart of patients with cardiac diseases like those with amyloid cardiomyopathy.

In this test, we use special machines called echocardiograms in order to create through ultrasound images of the heart in a screen. It is a test that does not carry any harm to the patient. The patient will be lied on a bed and the medical doctor or the medical worker will acquire the images of the heart through this special machine. The test usually takes around 20 to 30 minutes to be performed, and after that the patient can go home and resume normal activities.

If you are diagnosed with variant-type ATTR-CM, direct family members such as parents, siblings, and children may also carry the gene. Genetic testing can help identify who may need monitoring or care in the future.

“Many people ask what the process is, because they’ve been feeling unwell for a long time and don’t know what it is. They start to suspect it might be amyloidosis and ask how to get diagnosed, and what tests are needed.”

Moderator of online support group

The sooner ATTR-CM is diagnosed, the sooner your treatment can begin. It is important to slow the build-up of amyloid in your heart, protect your organs from further damage, and give you and your family access to the right support and care.

You can learn more about ATTR-CM treatments here.

To explore topics in other sections, click on the links below:

Living with ATTR-CM

Recognize symptoms, adjust your daily routines, and support your well-being.

Supporting someone with ATTR-CM

Define your role, build a network, look after yourself

Further support

Explore common questions, understand key terms, pronounce complex words

What is amyloïdose?

Understanding amyloidosis: Know your condition, understand your type, recognise your symptoms

References

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NHS Guy’s and St Thomas’ NHS Foundation Trust. Cardiac amyloidosis – 99mTc-DPD scan. Available at: https://www.rbht.nhs.uk/our-services/cardiac-amyloidosis-99mtc-dpd-scan (Last accessed: March 2026).
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Chander Mohan J, et al. Indian Heart J. 2022;74(6):441-449.
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American Heart Association. What is an Echocardiogram? Available at: https://www.heart.org/-/media/Files/Health-Topics/Answers-by-Heart/What-Is-Echocardiography.pdf (Last accessed: March 2026).