Transthyretin amyloid cardiomyopathy (ATTR-CM) is a heart condition that develops when a protein called transthyretin changes shape and clumps together. These clumps can build up in the heart and sometimes in other parts of the body, such as the nerves. The buildup can make the heart muscle stiff and less flexible.
Over time, the heart has to work much harder to keep up. As the condition progresses, it can weaken the heart’s ability to pump, which may lead to heart failure.
Here are the signs and symptoms of transthyretin amyloid cardiomyopathy:
Symptoms of ATTR-CM can be easy to miss, especially in the early stages. Many people are diagnosed with something else at first because ATTR-CM can look like other heart problems, such as heart failure or hypertrophic cardiomyopathy. Some people may not notice any symptoms at all.
If you do have symptoms, common ones may include:
- Shortness of breath with light activity or even while at rest
- Swelling in the lower legs, ankles, or feet
- Chest pressure or congestion
- Stroke
- Insomnia (difficulty falling or staying asleep)
In addition to common symptoms that resemble those of heart failure, some people with ATTR-CM develop less common symptoms. These symptoms may not seem related to the heart at first. The symptoms include:
- Numbness or tingling in the hands and feet: This can happen when amyloid buildup affects the nerves.
- Spinal stenosis: This is pressure on the spinal cord. It often appears years before heart symptoms.
- Carpal tunnel syndrome: This is when you have hand and wrist pain due to pressure on the median nerve. It usually starts years before heart symptoms.
- Lightheadedness or unexplained falls: These symptoms can be due to changes in heart rhythm.
- Jugular venous distention: This is swelling of the neck veins.
As ATTR-CM progresses, other symptoms may appear. These include:
- Coughing or wheezing, especially when lying flat
- Bloating in the belly
- Feeling confused or having trouble thinking clearly
- Palpitations, or sensations as though your heart is pounding
- Heart rhythm problems like atrial fibrillation
Many people with transthyretin amyloid cardiomyopathy experience long delays before receiving the correct diagnosis. This is because ATTR-CM was once rare but has recently become more common. Symptoms of the condition can also mimic those of other, more common heart problems.
Getting evaluated early, when you first notice symptoms, can help you access the right tests and treatments sooner. Schedule a visit with a doctor if you have:
- Ongoing, new, or worsening shortness of breath, fatigue, or trouble exercising
- Swelling in the legs, ankles, or feet
- Symptoms that don’t improve with usual heart failure treatment
- Numbness, tingling, or carpal tunnel symptoms
- A history of spinal stenosis along with new heart-related symptoms
- A family history of hereditary ATTR, especially if you are noticing any early heart or nerve symptoms
