2023 | HFSA

Why You Should Talk to Your Doctor About ATTR-CM, A Rare Heart Disease

Patient News Heart Failure Awareness 365

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Transthyretin amyloid cardiomyopathy, or ATTR-CM, is a rare, serious, underrecognized and underdiagnosed type of amyloidosis that affects the heart and is associated with heart failure. The disease, which worsens over time, often presents as signs commonly linked to heart failure, such as fatigue, shortness of breath, irregular heartbeat, and swelling in the lower legs. People may also experience other signs and symptoms of ATTR-CM that aren’t usually linked to the heart, including lower back pain, stomach issues, and carpal tunnel syndrome.”

ATTR-CM develops when proteins in the body change shape or “misfold” and these misfolded proteins build up in the heart and body over time, making early diagnosis important. Because symptoms can mimic other more common heart conditions, it can be difficult to diagnose, and awareness of the condition remains low – even among doctors.

Dr. Hansie Mathelier, MD, cardiology specialist at Penn Medicine, notes, “The ATTR-CM patient journey can be long and complicated. It may involve multiple doctor visits and years of testing before a patient receives a proper diagnosis.”

Unfortunately, for many people the condition goes completely undiagnosed. 

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Getting Properly Diagnosed

Early identification of ATTR-CM is key for effective management, especially because it worsens over time. It’s important to find a doctor that is familiar with the signs of ATTR-CM, like a cardiologist. To reach a correct diagnosis, a doctor may order various tests to see how your heart is working and look for signs of ATTR-CM. An electrocardiogram reads electrical signals from the heart and can reveal conditions like irregular heartbeat (among other findings) that may be related to ATTR-CM. An echocardiogram creates images of the heart to help determine the speed and direction of blood flow in the heart. Cardiac MRI (magnetic resonance imaging) creates images of the heart to look for abnormalities. These tests can help a doctor learn about the patient’s heart and determine the need for additional testing to confirm an actual diagnosis.

Some patients may not know where to begin when talking to their doctor about their symptoms and a
doctor discussion guide can be a useful tool to start those conversations. In the guide, patients can find
key questions to ask themselves or a loved one to identify whether their symptoms could be signs of

Patients can also print the discussion guide to fill out and bring to a doctor’s appointment. Patients, and their caregivers, should be open about symptoms when talking to their doctor, even if they’re experiencing symptoms that seem unrelated to the heart, like carpal tunnel syndrome and lower back pain. It can also be helpful to prepare for appointments by collecting personal medical records, family medical history, and writing down questions.

Have Heart Failure with Unresolved Symptoms?

Heart failure and seemingly unrelated symptoms like carpal tunnel syndrome, shortness of breath, and irregular heartbeat could be something more serious, like ATTR-CM. If this sounds like you, call your cardiologist to ask about ATTR-CM and visit HeartFailureConnection.com.



Helpful Resources

Visit the HFSA Patient Hub to explore tools and resources to help patients stay healthy while living with heart failure. 

View Heart Failure Awareness 365 activities to stay up-to-date on tips for healthy living for people living with heart failure.