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How ATTR-CM is diagnosed
ATTR-CM can often be hard to diagnose. Learn more about ATTR-CM diagnosis and what you can do to help detect it early.
Key takeaways
The health diagnosis journey for someone with ATTR-CM can be frustrating, as the condition is often missed or misdiagnosed. Symptoms may be dismissed as common signs of aging, or mistaken for other types of heart failure. In fact, many individuals consult two or three doctors before finally receiving an accurate diagnosis.
Gaining insight into the diagnostic process can help you take proactive steps to advocate for yourself and/or your loved one. Remember, you're not on this path alone. There is support available to help you navigate these challenges.
How is ATTR-CM diagnosed?
ATTR-CM (transthyretin cardiac amyloidosis) is a rare disease where abnormal protein deposits build up in the heart, making it harder to pump blood effectively. Learn more at “What is ATTR-CM?”
Diagnosing ATTR-CM starts with recognizing the signs and symptoms. To help you recognize warning signs, you can think of the word HEART:
H – Hard to breathe
- You may experience shortness of breath and be unusually exhausted
E – Electrical issues in the heart
- You’ve had irregular heartbeats or arrhythmia
A – Aches and pains in joints or hands
- Examples include carpal tunnel, back problems/lumbar spinal stenosis, or tendon issues—especially if they came out of nowhere.
R – Restrictions in your heart muscle
- Doctors say your heart looks thick or stiff, but your blood pressure is normal
T – Tingling or numbness
- Strange symptoms elsewhere in your body besides the heart
If you have been diagnosed with heart failure and are not responding to standard treatments, this may be another sign that ATTR-CM should be considered.
If someone’s having problems as Don did, I would say to seek a doctor’s advice. To be honest and detailed with your doctor and tell them all that’s going on. Also, be forward about asking for testing to be done. Be proactive in your own health and the health of your loved one.”
Jackie, caregiver of patient with hATTR-CM
If you suspect ATTR-CM, the ATTR-CM Assessment can help you build a personalized guide to discuss with your doctor. You may want to use the Doctor Finder to locate specialists who understand the disease.
Doctors may do tests to help diagnose ATTR- CM such as:
- Blood and urine tests: These can help rule out other forms of amyloidosis, such as AL amyloidosis (amyloid light chain or primary amyloidosis). They can also help identify if you have other conditions that often occur with cardiac amyloidosis.
- Imaging and electrical tests: Echocardiograms, cardiac magnetic resonance imaging (MRI), electrocardiograms (ECG), and nuclear imaging (scintigraphy) can show findings like thickened heart walls, amyloid build-up, changes in your heart's electrical system, and/or reduced heart function. These can help doctors determine if you have cardiac amyloidosis, and what type of cardiac amyloidosis you have.
- Biopsy: In some cases, tissue samples may be taken to confirm amyloid deposits.
- Genetic testing: Especially important to differentiate hereditary ATTR-CM (hATTR), which runs in families, from wild-type ATTR-CM (wtATTR), which is typically associated with age.
Doctors may also look at other clues unrelated to the heart, such as carpal tunnel syndrome, to screen for ATTR-CM.
Can ATTR-CM be missed or misdiagnosed?
Diagnosis of ATTR-CM can be missed because general awareness of the disease is still low, and some doctors may not immediately consider it. ATTR-CM can also be misdiagnosed because symptoms can mimic more common heart conditions like heart failure or be dismissed as common signs of aging.
I was experiencing shortness of breath. For years and years, I was seeing pulmonologists, not just one but many, to get it under control. I was also experiencing carpal tunnel syndrome, and I had AFib and was being treated for it by a cardiologist. I wasn’t diagnosed with ATTR-CM until the shortness of breath became so bad that I needed to take an ambulance to the hospital and another cardiologist suspected cardiac amyloidosis and tested me for it.”
David, wtATTR patient
Common ATTR-CM symptoms to watch for
ATTR-CM affects more than just the heart. Here are some signs to look out for, but note this is not a comprehensive list.
Misdiagnosis or missed diagnosis can happen due to:
- Lack of awareness among healthcare providers
- Mistaking cardiac symptoms for other types of heart conditions
- Overlapping health conditions like carpal tunnel syndrome or spinal stenosis not being linked to heart issues
- Patients needing to see multiple providers before getting a correct diagnosis
Studies show diagnostic delays can range from 2.6 to 6.1 years, depending on the type of ATTR-CM. That’s valuable time lost when early diagnosis and treatment could make a difference.
Cardiac symptoms
- Shortness of breath, even at rest
- Swelling in lower legs, ankles, or feet
- Fatigue and low energy
- Coughing or wheezing when lying down
- Irregular heart rhythms or changes in heart rhythm (e.g., atrial fibrillation)
- Dizziness or fainting
- Chest congestion or bloating
- Confusion or trouble thinking clearly
Neurological and musculoskeletal symptoms
- Bilateral carpal tunnel syndrome
- Numbness or tingling in hands and feet
- Spinal stenosis
- Tendon ruptures
Why early detection of ATTR-CM matters
ATTR-CM is a progressive disease, meaning that it worsens over time. This is why early detection and diagnosis are so important. Early diagnosis means that you can start treatment earlier.
Approved treatments work by either stabilizing the TTR protein or stopping the production of the TTR protein. Early detection is important because the goal of approved therapies is to slow disease progression, which may help patients live longer. Approved treatments have also been shown to help slow the decline in health-related quality of life.
Although early and accurate diagnosis is still a challenge, there has been a lot of progress over the last few years thanks to increasing awareness and advancements in diagnostic tools. Because ATTR-CM is often misdiagnosed or overlooked, being proactive is key. If you suspect ATTR-CM, don’t wait to explore your options before finding answers and support.
Taking the next step: finding answers and support
If you or someone you care for is experiencing unexplained heart symptoms, especially alongside issues like carpal tunnel syndrome or fatigue, it’s worth exploring whether ATTR-CM could be the cause. Getting answers starts with asking the right questions—and connecting with the right resources.
You can begin by taking a free online ATTR-CM Assessment, which helps identify whether your symptoms may be related to this condition. You can also use the Doctor Finder tool to locate specialists who understand ATTR-CM and can guide you through the next steps.
Frequently
asked questions
Who is at risk for ATTR-CM?
People over 50 and those with a family history of amyloidosis may be at higher risk. Certain ethnic groups, such as African Americans, may also have a higher prevalence of hereditary ATTR-CM (Val122lle variant).
Are there treatment options for ATTR-CM?
Yes. While ATTR-CM is a serious condition, treatments are available that can help slow progression. These may include medications that stabilize the transthyretin (TTR) protein to prevent it from misfolding and forming amyloid deposits or reducing the production of TTR protein which decreases the amount of protein available to misfold and form amyloid deposits.
If I have symptoms but no diagnosis, what should I do?
You can take a free online ATTR-CM Assessment to understand the warning signs, and use the Doctor Finder tool to locate a specialist who has experience diagnosing and treating this condition. Consult your doctor to discuss your symptoms and explore appropriate treatment options.
Shortness of breath, swelling in the legs,
and fatigue
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References
Amyloidosis Research Consortium. ARC 2022 Community Survey. Accessed December 16, 2025. https://arci.org/arc-2022-community-survey/
Ash S, Shorer E, Ramgobin D, et al. Cardiac amyloidosis-A review of current literature for the practicing physician. Clin Cardiol. 2021;44(3):322-331. doi:10.1002/clc.23572
Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation. 2016;133(24):2404-2412. doi:10.1161/ CIRCULATIONAHA.116.021612
Jain A, Zahra F. Transthyretin Amyloid Cardiomyopathy (ATTR-CM) [Updated 2023 Apr 27]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK574531
Rozenbaum MH, Large S, Bhambri R, et al. Impact of Delayed Diagnosis and Misdiagnosis for Patients with Transthyretin Amyloid Cardiomyopathy (ATTR-CM): A Targeted Literature Review. Cardiol Ther. 2021;10(1):141-159. doi:10.1007/s40119-021-00219-5
Transthyretin Amyloid Cardiomyopathy (ATTR-CM). American Heart Association. May 29, 2024. Accessed September 26, 2025. https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/transthyretin-amyloid-cardiomyopathy-attr-cm
Writing Committee, Kittleson MM, Ruberg FL, et al. 2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis: A Report of the American College of Cardiology Solution Set Oversight Committee. J Am Coll Cardiol. 2023;81(11):1076-1126. doi:10.1016/j.jacc.2022.11.022