What Is ATTR-CM?
ATTR-CM is a disease that makes the heart stiff and weak. It happens when faulty proteins build up, which makes it harder to pump blood throughout the body. This can lead to heart failure if left untreated.
Your doctor may call it transthyretin (TTR) amyloid cardiomyopathy. Here’s what that means:
Transthyretin.A protein that helps carry hormones and vitamins in the blood.
Amyloid.Abnormal proteins that can damage organs.
Cardiomyopathy.A condition where the heart muscle struggles to pump blood.
Doctors may also refer to ATTR-CM as:
- Transthyretin amyloidosis
- Amyloidosis ATTR
- Cardiac amyloidosis
- Transthyretin cardiac amyloidosis
Amyloidosis is what happens when amyloid proteins pile up in your organs. ATTR-CM is one type that specifically affects the heart.
How Do Proteins Cause Heart Problems in ATTR-CM?
Proteins are tiny molecules that help cells do their jobs. They need to fold into the right shape to work. Think of it like trying to fit a damaged puzzle piece into place – everything needs to line up.
In ATTR-CM, the transthyretin protein misfolds and forms clumps called amyloid fibrils. These deposits build up and stiffen the walls of the heart. Over time, the heart can weaken and may not be able to squeeze hard enough to pump blood.
How Common Is ATTR-CM?
We don’t know exactly how many people have ATTR-CM. Doctors used to think it was rare, fewer than 200,000 people. But new tests show it’s probably more common than once thought, especially among older adults.
Studies show about 1 in 4 people over 80 with certain types of heart failure (preserved ejection fraction) have transthyretin deposits in their heart. This suggests at least 155,000 people in the U.S. might have ATTR-CM.
The real number could be higher because milder cases of heart failure are more common, and many go undiagnosed.
ATTR-CM Types
There are two types of ATTR-CM:
Familial ATTR-CM.This kind is passed down through families. Changes to the TTR gene make it more likely that transthyretin will misfold and form deposits in your heart. It follows an autosomal dominant pattern. That means you can get it if only one of your parents passes it to you.
Wild-type ATTR-CM.This type happens without any changes to the TTR gene. It usually forms in older adults, often around age 74. Wild-type ATTR-CM doesn’t run in families and seems to be more common in men.
ATTR-CM Causes
While the exact cause isn’t fully understood, certain things can raise your chances of getting ATTR-CM.
What Are the Risk Factors for ATTR-CM?
It depends on which kind you have. Here’s a breakdown of key risk factors for each type:
Risk factors for familial (hereditary) ATTR-CM:
- A family history of ATTR-CM or heart failure
- Being older than 60
- Being male
- Having family roots in Africa
In the U.S., around 3% to 4% of Black people carry the gene change linked to familial ATTR-CM, but not everyone with this gene mutation will get the condition.
Risk factors for wild-type ATTR-CM:
- Having heart failure with preserved ejection fraction (HFpEF)
- Having narrowed aortic valves (called low-flow aortic stenosis)
- Having thickened heart walls
- Being a male over 65 or female over 70
It’s uncommon, but you can get diagnosed with wild-type ATTR-CM in your 40s.
White men are more likely to get diagnosed with wild-type ATTR-CM than other groups, though some researchers think it may be underdiagnosed in other races.
ATTR-CM Symptoms
When amyloid deposits build up in your heart, the muscle can’t relax and fill with blood properly. This can also mess with electrical signals, causing it to beat too fast or too slow.
Common symptoms of ATTR-CM (and other forms of heart failure) include:
- Shortness of breath, even when lying down or resting
- Bloated belly
- Trouble thinking clearly
- Coughing or wheezing, particularly when lying down
- Swelling in your legs, ankles, or feet (edema)
- Irregular or fast heart rate
- Heart flutters
- Feeling unusually tired or weak
- Dizziness or passing out, especially when you stand up
Other signs that may point to ATTR-CM include:
- History of carpal tunnel syndrome (more common in wild-type ATTR-CM)
- History of spinal stenosis (more common in wild-type ATTR-CM)
- Numbness and tingling in hands and feet (more common in familial ATTR-CM)
Talk to your doctor if you have any of the above symptoms and you don’t know why.
How Is ATTR-CM Diagnosed?
ATTR-CM symptoms can be mistaken for other heart problems or types of amyloidosis, which makes diagnosis tricky. But doctors have several ways to figure out if you have it.
First, they’ll ask about your health history and do a physical exam. Tell them about all your symptoms, even if they seem unrelated to your heart.
ATTR-CM Tests
If your doctor thinks ATTR-CM might be behind your symptoms, they may order one or more of these tests:
Lab tests.Blood or urine tests can help rule out other conditions.
Imaging.MRIs can show your heart’s structure and function.
Bone scans.A test called bone scintigraphy looks for amyloid deposits.
Heart tests.An electrocardiogram (EKG or ECG) measures electrical activity in your heart.
Genetic testing.Changes in the TTR gene may signal familial ATTR-CM.
These help doctors confirm ATTR-CM and its type. An early diagnosis means earlier treatment to protect your heart.
Questions for Your Doctor
If you have ATTR-CM or think you might, here are some topics to bring up with your doctor:
- Could my symptoms be related to ATTR-CM?
- What tests are needed to confirm the diagnosis?
- How can we figure out if ATTR-CM is hereditary?
- What are my treatment options? What are the side effects?
- What are the signs of an emergency?
- Are there any clinical trials or new therapies I should know about?
Other questions to consider asking include:
- Will I need a heart or liver transplant?
- Will ATTR-CM affect other parts of my body?
- If I have a TTR gene mutation, does that mean my children will get it?
- How long will I live with this condition? Is there a cure?
- What lifestyle changes can I make?
ATTR-CM Treatment
There’s no cure for ATTR-CM, and you can’t get rid of the protein deposits you already have. But treatment can help you manage symptoms and live longer.
That may include:
Medications that stabilize TTR. These are drugs that keep TTR proteins from breaking down, misfolding, and sticking together. They include:
- Acoramidis (Attruby)
- Diflunisal (Dolobid)
- Tafamidis (Vyndaqel, Vyndamax)
Medications that curb protein production.These lower the amount of abnormal TTR proteins made by the liver:
- Inotersen (Tegsedi)
- Patisiran (Onpattro)
Surgery or organ transplant.Your doctor may need to put in a pacemaker. It’s a device that helps steady your heartbeat. If you have advanced heart failure or serious organ damage, you may need:
- Liver transplant
- Kidney transplant
- Heart transplant
- LVAD (left ventricular assist device)
What to Expect During Treatment for ATTR-CM
If you’re curious about what happens next, here are some topics to go over with your doctor:
Managing side effects.Like any medication, treatment for ATTR-CM may come with side effects. Talk to your doctor about symptoms that bother you. Supportive treatments may help you feel better, but you may also need to switch meds or adjust the dose.
Heart failure care.You’ll need ongoing care from a cardiologist, a doctor who specializes in treating the heart. Regular follow-up visits with your doctor can help your heart work as well as possible for as long as possible. Depending on how serious your heart failure is, you may need a mix of medications, lifestyle changes, and maybe even surgery.
Monitoring.Expect regular tests and appointments to check your heart health. This may include MRIs, blood tests, and echocardiograms. Your doctor will also keep an eye on your kidney and liver health.
Adjustment to care.As your treatment moves forward, your doctor may need to change your plan. This often depends on how well the medicine is working and how serious your heart failure is. It’s important to stay in touch with your doctor so they can make changes early on.
ATTR-CM Complications
Without treatment, ATTR-CM can lead to serious health issues. Depending on where your abnormal protein deposits are, you may have:
- Heart failure
- Irregular heartbeats (arrhythmia)
- Carpal tunnel syndrome
- Eye floaters
- Narrowing of the spine (spinal stenosis)
- Tendon tears
- Pins and needles in your hands and feet (peripheral neuropathy)
You may get a type of irregular heartbeat called atrial fibrillation. Afib is associated with more severe heart failure symptoms and worse health outcomes. About 70% of people with wild-type ATTR get Afib.
How ATTR-CM May Change Over Time
Transthyretin amyloid cardiomyopathy can cause serious health issues over time. Here’s what might happen:
Early stage.You may have mild symptoms or not realize you have a heart problem.
Mid-stage.Symptoms like shortness of breath, swelling, and fatigue become more obvious.
Advanced stage.The heart can’t pump blood as it should, leading to heart failure.
Treatment can slow disease from getting worse, but you’ll still need to see your heart doctor regularly to make sure your care plan is up to date.
Tips for Living With ATTR-CM
Healthy lifestyle choices can help you manage ATTR-CM. Here are some tips to live well with the condition:
Keep track of your symptoms.This helps you catch problems early and stay ahead of changes.
Limit salt.Cut back on salty foods and check food labels for hidden sodium.
Stay active. Regular exercise (like walking) can strengthen your heart and overall health.
Don’t overdo it.Listen to your body. If you’re feeling tired or weak, take it easy.
Get enough rest.Aim for seven to nine hours of sleep each night.
Manage stress.Practice relaxation techniques like deep breathing, meditation, or yoga.
Follow your treatment plan.Take your medications exactly as prescribed. Call your doctor’s office or ask the pharmacist if you have questions.
If lifestyle changes don't seem to help or you’re having trouble making them, talk to your doctor about adjusting your treatment plan or exploring other ways to manage symptoms.
Getting Support for ATTR-CM
People with stronger social networks have a lower risk of dying from heart failure. For example, one study found that good social support can lower the risk of dying from heart disease by up to 60%.
Support looks different for everyone, so find what works for you. Use these tips:
Join a support group.The American Heart Association Network is a good place to start.
Talk to a counselor.A therapist can help you process your emotions and learn skills.
Tap into your spiritual beliefs.Your faith community may offer comfort and strength.
Lean on loved ones. Let friends and family know how they can help.
Stay connected with your care team. Keep up with appointments and share any new symptoms.
Ask your doctor to connect you with resources. They may point you towardAmyloidosis Support Groups, theAmyloidosis Foundation, theAmyloidosis Research Consortium, orMackenzie’s Mission.
The Future of ATTR-CM Treatment
Researchers are working on new ways to treat ATTR-CM, including:
Gene-editing therapies.Scientists are exploring how to fix the gene changes that cause familial (hereditary) ATTR-CM. This could help stop the disease from getting worse or stop it from developing in the first place.
Amyloid-removing treatments.A big problem in ATTR-CM is the buildup of amyloid proteins in the heart. New treatments aim to remove these proteins, which could help your heart work better and ease symptoms.
Better diagnostic tools.Finding ATTR-CM early is really important. Scientists are working on improving the tests used to diagnose it so doctors can start treatment sooner and help protect the heart for longer.
Takeaways
ATTR-CM is a serious heart condition that often goes undiagnosed. It happens when abnormal proteins build up in the heart, making it stiff and weak. While there’s no cure, new treatments can slow disease progression and help you live longer.
If you have signs of heart failure, talk to your doctor. Common symptoms of ATTR-CM include shortness of breath, unusual tiredness, and swelling in the lower body. The sooner you get treatment, the better your chances of protecting your heart.
ATTR-CM FAQs
Does ATTR-CM cause carpal tunnel syndrome?
Carpal tunnel syndrome (CTS) is a common early sign of ATTR-CM. About half of people with wild-type ATTR-CM get it, often in both hands. CTS may show up about 5-10 years before you get heart symptoms. This happens when amyloid deposits build up in the wrist, putting pressure on the nerves.
What is the life expectancy with ATTR-CM?
It depends on when you’re diagnosed and the health of your heart. Without treatment, people with mostly nerve-related symptoms may live around eight to 10 years. Those with heart failure typically live 2.5-3.5 years. Newer treatments may help you live longer.
What are ATTR-CM symptoms in women?
Shortness of breath, swelling, and fatigue are common for anyone with ATTR-CM. Women with heart failure may also report symptoms like depression or trouble exercising and are often diagnosed later than men, which can delay treatment. But researchers haven’t found big differences in health outcomes when it comes to men and women with ATTR-CM.
Can ATTR-CM be prevented?
There’s no surefire way to prevent ATTR-CM. If you have the gene that causes familial or hereditary ATTR-CM, there’s a 50% chance you’ll pass it to your kids. But not every child who has the gene goes on to get ATTR-CM. Talk to a genetic counselor if you’d like to learn more.
