What is ATTR-CM?

Symptoms of ATTR-CM

ATTR-CM symptoms can be vague and often mimic other conditions, which is why it can be underdiagnosed. To help you recognize some of the 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

This is not an exhaustive list, but if you’re experiencing any of these symptoms, you can take the ATTR-CM Assessment to build a personalized guide to discuss with your doctor. The Doctor Finder can help you connect with specialists who understand ATTR-CM and can help guide your next steps.

Wild-type ATTR-CM (wtATTR)

Wild-type ATTR-CM develops with age and is the most common type of ATTR-CM. As people grow older, TTR proteins can destabilize and misfold, even without a genetic mutation.

wtATTR typically affects older adults and may also include non-heart symptoms like carpal tunnel syndrome or lumbar spinal stenosis. Because symptoms can be vague, progress slowly, and often occur alongside other age-related heart conditions, wtATTR is often misdiagnosed as general aging or other heart-related issues.

Hereditary ATTR-CM (hATTR)

Hereditary ATTR-CM is passed down through families and is caused by a mutation in the gene responsible for producing the transthyretin (TTR) protein. When that gene is altered, it can cause the TTR protein to fold incorrectly, leading to hereditary transthyretin amyloidosis (hATTR).

hATTR is more common in certain ethnic groups, including Black, African American, and Afro-Caribbean communities. More than 100 different TTR mutations have been identified, and the age at which symptoms appear can vary depending on the specific mutation. In the United States, the most common mutation is V122i, which is found in approximately 3–4% of African Americans. However, not all individuals with a mutation will develop symptoms of hereditary ATTR‑CM.

Treatment options for ATTR-CM

ATTR-CM is a serious condition that cannot be reversed or cured. However, available treatments can help reduce heart-related symptoms and slow disease progression. These therapies not only make daily activities easier but also help keep patients out of the hospital with fewer and may improve survival.

• TTR stabilizers: These medications help keep the transthyretin protein in its correct shape, preventing it from misfolding and forming amyloid deposits. By stabilizing the protein, they can slow the progression of the disease and reduce further damage to the heart.
• Gene silencing therapies: These treatments work by reducing the production of the faulty transthyretin protein at the genetic level. By lowering the amount of protein available to misfold, gene silencing therapies can help limit the buildup of amyloid in the heart and other tissues.
• Emerging therapies: Researchers are actively studying new approaches that aim to remove existing amyloid deposits, improve heart function, or address symptoms more effectively. These therapies are still in development but offer hope for expanded treatment options in the future.
• Heart transplants: In rare and advanced cases, a heart transplant may be considered. This option is typically reserved for patients with severe heart failure who are otherwise healthy enough to undergo the procedure and have not responded to other treatments.

If you or a loved one suspect ATTR-CM, it’s important to speak with a specialist about which treatment options may be appropriate. To help guide that conversation, learn more about how to talk to your doctor about ATTR-CM.