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There are many possible causes of cardiac amyloidosis. Some people inherit it from their parents. Others can develop this condition themselves

What is Cardiac Amyloidosis? – Symptoms, Causes and Treatments

Cardiac amyloidosis is a heart condition in which deformed proteins become lodged in and around different parts of the heart. When these proteins build up, the heart struggles to pump blood, so it tries to pump harder. Ultimately, the extra exercise weakens and damages the heart, causing it to malfunction.

There are many possible causes of cardiac amyloidosis. Some people inherit it from their parents. Others can develop this condition themselves, and it can be caused by other diseases such as cancer. There is no cure for amyloidosis, but some types are treatable.

Who does it concern?

Factors most likely to influence those who are in this state include:

  1. Age: Some people develop amyloidosis in their 20s, but it is rare in people under 40. Diagnosis is usually after age 50, especially in wild-type ATTR amyloidosis (a different form of amyloidosis).
  2. Sex: Cardiac amyloidosis is more common in men than in women. This statistic is especially true for wild-type ATTR amyloidosis, with 25 to 50 cases in men for every case in women.
  3. Country of birth: Genetic mutations that cause familial ATTR amyloidosis are much more common in some countries. These include Portugal, Japan, Sweden, Finland, and several other European countries.
  4. Race: Another mutation that causes familial ATTR amyloidosis occurs in approximately 4% West Africans.
  5. Regular dialysis for several years: Symptoms of this disease occur more frequently as the duration of dialysis increases.


How does this Cardiac Amyloidosis affect my body?

Cardiac amyloidosis is a disease that alters the structure of the heart and affects its ability to pump. You can observe the following conditions:

  1. Heart wall thickening: Accumulation of amyloid protein in the myocardium causes the heart wall to thicken and the heart to enlarge. When this happens, your heart has to work harder to pump enough blood to your body. The extra strain on the heart eventually leads to heart failure.
  2. Disorders of the heart’s electrical system: Cardiac amyloidosis can cause irregular heart rhythms (arrhythmias) and weaken the heart’s current. One type of arrhythmia that is common in amyloidosis is atrial fibrillation.
  3. Amyloid structure: Amyloid proteins are waxy and easily stick together to form large clusters. When these clusters become lodged in heart valves, they can partially block the valve and restrict blood flow.


What are the symptoms of Cardiac Amyloidosis?

Not everyone with a genetic mutation that can cause amyloidosis develops the condition. Others may have less severe cases.

Symptoms of cardiac amyloidosis usually affect the heart and other vital organs, such as the liver and kidneys. In the terminal stages of cardiac amyloidosis, severe heart failure symptoms may occur.


Symptoms may include:

  1. Breathlessness: This can occur during physical activity or when lying down.
  2. Edema: Fluid accumulation leading to swelling, commonly affecting the feet, ankles, legs, and abdomen.
  3. Fatigue: Persistent feelings of tiredness or exhaustion that last for extended periods, typically several days or more.
  4. Heart palpitations: Uncomfortable awareness of your own heartbeat.
  5. Distended jugular vein: Visible enlargement of the jugular veins, often seen in cases of heart failure. Intense physical exertion can cause increased pressure on the neck veins, resulting in dilation.
  6. Enlarged liver (hepatomegaly): A symptom observed in heart failure, caused by the same mechanism that leads to the dilation of neck veins.
  7. Kidney complications: These can include kidney inflammation and changes in kidney function.


Symptoms that may be signs of cardiac amyloidosis but do not affect the heart, liver, or kidneys include:

  1. Unusual bruising.
  2. Tongue swelling.
  3. Early signs of carpal tunnel syndrome.
  4. Lumbar spinal stenosis (narrowing below the lumbar spine).
  5. Vision issues.
  6. Hearing loss.
  7. Arm or leg numbness or tingling.


What causes cardiac amyloidosis?

Different types of amyloidosis occur for various reasons, most of which affect DNA. DNA is like a family cookbook containing instructions on how cells should function and make specific proteins. Passing DNA from parent to child is like parents working together to create a handwritten copy of the cookbook.

A genetic mutation is just a typo in your DNA cookbook, and one big typo can ruin your recipe. This analogy is similar to diseases like amyloidosis. Your cells are doing their best but only know how to follow a recipe. These typos can occur in two different ways:



Acquired conditions are things you don’t inherit, meaning you develop them at some point in your life. Wild-type ATTR amyloidosis and dialysis-associated amyloidosis are examples of acquired diseases, but both do not involve mutations in your DNA.

Wild-type ATTR amyloidosis occurs because proteins become unstable over time, even though the body makes them properly (which is why this condition is so age-related). ). Eventually, the protein misfolds itself.

Dialysis-related amyloidosis occurs because the body has too much normal protein that dialysis cannot filter out, unlike the kidneys. Over time, this protein builds to the point where it starts causing problems.



Cardiac amyloidosis is often familial, meaning it is inherited. The condition happens when a mutation occurs in the DNA of one or both parents. The error in that version of the “cookbook” is copied into your version.


Amyloidosis treatment

There is no cure for amyloidosis. Doctors prescribe treatments to slow the development of amyloid protein and control symptoms. When amyloidosis is associated with another condition, treatment includes treating the underlying disease.


Specific treatments depend on the type of amyloidosis and the number of organs affected.

  1. High-dose chemotherapy with stem cell transplant helps clear the substances that cause amyloidogenesis in some patients with primary AL amyloidosis.
  2. Doctors can use only chemotherapy drugs to treat other patients with primary AL amyloidosis.
  3. Secondary (AA) amyloidosis is treated by controlling the underlying disease and using powerful anti-inflammatory drugs called steroids to reduce inflammation.
  4. A doctor can treat certain types of hereditary amyloidosis with a liver transplant.
  5. A new treatment can slow down the production of the abnormal protein TTR.
  6. Doctors may also recommend a kidney transplant.


Other treatments to relieve symptoms include:

  1. Water pills (diuretics) to reduce excess fluid in the body.
  2. Adding a thickener to liquids to make swallowing easier and prevent choking.
  3. Wearing compression stockings to reduce swelling in the legs and feet.
  4. Make changes to your diet, especially if you have gastrointestinal amyloidosis.


A note from the Heartscope Specialist Group

Cardiac amyloidosis is a common disorder linked to specific diseases. Detecting it early improves outcomes and offers the potential for a cure. Researchers are exploring new drugs and treatments to manage symptoms. The Heartscope Specialist Group provides expert care for cardiac amyloidosis and other heart diseases. Our physicians collaborate with different specialists for early diagnosis and treatment.