What is ATTR-CM?
ATTR cardiac amyloidosis is a disease of the heart muscle. It is caused by the buildup of abnormal proteins (amyloid) in the walls of the heart.
ATTR-CM reduces the heart’s ability to pump blood properly. This can lead to heart failure.
There are two types of ATTR-CM
- Wild-type ATTR-CM
- Caused by natural aging
- May affect the heart and nervous system
- More common in men
While most people diagnosed are male, ATTR-CM is underdiagnosed in women.
- Hereditary ATTR-CM
- Occurs in families
- Caused by a change in your genes
- May affect the heart, nervous system, kidneys and other organs
- The risk factors include
- Family history of heart disease or ATTR-CM
- Older age
- Being Black or Afro-Caribbean
About one in 25 black Americans carries the V122I gene, which increases the risk of hereditary ATTR-CM.
ATTR-CM symptoms
You may initially have no or mild symptoms, especially with wild-type ATTR-CM.
Symptoms may reflect other medical conditions, such as menopause, or may appear unrelated to heart disease.
People with ATTR-CM may experience:
- shortness of breath
- Swelling in the legs
- Gastrointestinal problems, such as stomach bloating
- Irregular or fast heartbeat
- fatigue
If left untreated, ATTR-CM can lead to hospital visits, complex heart problems and a shorter life expectancy.
Your nerves can also be affected. Protein buildup in the nervous system can lead to complications such as:
- Carpal tunnel syndrome
- Numbness or tingling in your hands and feet
- Nerve pain
- Spinal stenosis (back pain due to narrowing of the spine)
How is ATTR-CM diagnosed?
In addition to symptoms, your doctor will use diagnostic imaging to determine whether further testing is needed.
Genetic tests can then be used to determine whether the disease is hereditary.
ATTR-CM likely affects more than 400,000 patients worldwide. However, the diagnosis remains unrecognized in many people, especially women.
What causes ATTR-CM?
A protein called transthyretin (TTR) is made in the liver and performs many important functions, including transporting:
- Thyroid hormone (needed to regulate your metabolism for health and well-being)
- Vitamin A (for vision health)
ATTR-CM occurs when TTR becomes unstable, breaks apart, and folds incorrectly.
How is ATTR-CM treated?
ATTR-CM cannot be cured, but treatments can prevent the disease from getting worse and help relieve symptoms.
Types of treatment include:
- TTR knockdowns
- May decrease the amount of TTR in your body
- TTR stabilizers
- May increase the amount of TTR in your body
By measuring your TTR level, your doctor can get an idea of how well your treatment is working.
Lifestyle changes are important when living with ATTR-CM
- Eat a heart-healthy diet
- Monitor your sodium intake
- If possible, walk and exercise daily
- Limit alcohol consumption
Wondering if you may have or be at risk of ATTR-CM?
Talk to your doctor about treatment options so you can decide together what is best for you. Early diagnosis and treatment can help slow the progression of ATTR-CM and lead to better health outcomes.
This educational resource was created in collaboration with BlackDoctor and with support from BridgeBio.