Cardiac Amyloidosis

Cardiac amyloidosis is a condition caused by a buildup of an abnormal protein called an amyloid. Left untreated, this buildup can thicken the heart walls and lead to heart failure.
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Cardiac amyloidosis happens when amyloid proteins build up in your heart. Usually, these proteins dissolve and are removed from the body, but in rare cases the proteins are deposited in the heart—causing the walls of the heart to thicken and your heart to become stiff.  

When this happens, your heart is unable to relax between heartbeats, causing pressure to build up that prevents blood from filling up the chambers in the heart. If blood cannot move through the heart as it should, it can cause blood to back up into the lungs and other parts of the body. Because cardiac amyloidosis can prevent the heart from keeping up with the body’s needs, it often leads to heart failure.  

Our cardiologists can treat your cardiac amyloidosis and relieve your symptoms by removing the amyloid buildup or slowing it to help prevent the condition from worsening over time. Our experienced providers will create a customized treatment plan that works for you.  
 

Cardiac amyloidosis symptoms

Because cardiac amyloidosis can lead to heart failure, many of the symptoms are the same but it can affect each person differently. Signs and symptoms of cardiac amyloidosis may include:

  • Shortness of breath with activity or at rest
  • Chest pain
  • Trouble breathing while lying flat
  • Needing to prop up on pillows or sleep in a recliner  
  • Waking up at night short of breath or coughing
  • Feeling weak or tired with activity
  • Weight gain due to extra fluid in the body  
  • Swelling in the abdomen, feet, ankles, or hands
  • Fainting or dizziness  
  • Irregular heartbeats
  • Numbness in hands and feet  
  • Tongue enlargement
  • Hoarse voice
  • Carpal tunnel syndrome
  • Spinal stenosis
  • Unexplained constipation or diarrhea (that does not get better)
If you have any combination of these symptoms, talk to your provider about being tested for cardiac amyloidosis and heart failure.

How is cardiac amyloidosis diagnosed?

Your evaluation will begin with a physical examination, a review of your medical history, and a discussion about any symptoms you are experiencing. Based on this evaluation, your provider may order additional tests. Your provider will decide which of the following tests may be needed:

  • Blood tests
  • Chest X-ray
  • Electrocardiogram (ECG)
  • Stress test
  • Computed tomography (CT)
  • Echocardiogram
  • Cardiac magnetic resonance imaging (MRI)
  • Nuclear imaging heart test (PYP)
  • Biopsy (tissue sample)
  • Genetic testing

If you have any questions about these tests, please talk to your provider. They can tell you about the importance of each one. 

Types of cardiac amyloidosis

There are both inherited and acquired types of cardiac amyloidosis, and a proper diagnosis will reveal the type you have. These include:

This is called primary systemic amyloidosis. Your bone marrow is the factory of all blood cells. A group of these cells, called plasma cells, make immunoglobulin or antibodies to help fight infection. In AL amyloidosis, these plasma cells make an unregulated number of antibodies. Part of these antibodies are light chains, which can deposit into different organs, including the heart. 

Transthyretin is a protein normally made by the liver. It transports thyroid hormones and vitamin A in the blood. In TTR amyloidosis, this protein misfolds (changes shape). Your body cannot get rid of the misfolded protein. So, it deposits into different organs in the body.  

Hereditary amyloidosis.

This is also known as familial amyloidosis. It is an inherited gene mutation passed to you by a parent. Abnormal TTR protein forms amyloid deposits in your heart, nerves, and other parts of your body. It may develop more slowly than AL amyloidosis.

Wild type transthyretin amyloidosis 

Also called age-related or senile amyloidosis. TTR protein made by the liver is normal (no gene mutation) but for unknown reasons forms amyloid. It most often deposits in your heart. It is most common in men as they age. It can also deposit in ligaments and cause carpal tunnel syndrome. This is a condition that makes your wrists and hands ache. It develops slowly. You may have it for years before having symptoms. 

Treatments for cardiac amyloidosis

Treatment depends on which type you have. If the production of the protein can be slowed, your body may be able to get rid of the amyloid buildup. Even if your body cannot get rid of it, your condition may not get worse with treatment.  

For AL amyloidosis, the main goal is to suppress the production of the antibodies and light chains by the plasma cells. This is often done with chemotherapy and immunotherapy. Sometimes a stem cell transplant is considered.  

For transthyretin amyloidosis, the goal is to lower the production of TTR protein from the liver and deposit it into other organs. Certain medications can lower production of TTR or stabilize TTR protein to stop it from breaking down.  

Treatments for heart failure and rhythm problems

Your provider may also need to treat the complications from cardiac amyloidosis such as heart failure or heart rhythm disorders. These treatments may include:  

  • Diuretic medicines
  • Medicines for irregular heartbeats
  • Pacemaker
  • Beta-blocker and ACE-inhibitors medicines
  • Heart transplants
  • Artificial heart pump
  • Diet

There is no link between stress, your job, or the environment you live in that causes or worsens amyloid.

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Wellmark Blue Cross Blue Distinction® Center+ designation
Expertise in cardiac care has earned UI Health Care the Wellmark Blue Cross Blue Distinction® Center+ designation. This means we’re a center of excellence that delivers high-quality, specialized care and better results.