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What is Transthyretin Amyloid
Cardiomyopathy?
Transthyretin Amyloid Cardiomyopathy (ATTR-CM), is a serious and severe condition that affects the heart muscle. It develops when a protein called transthyretin (TTR) changes its shape and forms clumps (amyloid deposits) in the heart – and sometimes in the nerves or other parts of the body. This process is called amyloidosis.
Over time, these deposits can make the walls of the heart become stiff. This can cause a type of heart disease called restrictive cardiomyopathy, which makes it difficult for the heart to pump blood properly. If left untreated, ATTR-CM can lead to heart failure.
ATTR-CM often flies under the radar.
Its symptoms can be subtle or mistaken for other heart problems, which means many people live with the condition for years before receiving the right diagnosis.
Raising awareness is key to improving early detection and care.
There are two types of ATTR-CM:
HEREDITARY (hATTR-CM)
This type is caused by a change in a gene, known as genetic mutation, which affects how the TTR protein works. It is inherited and can be passed down through families – if one parent has hATTR-CM, there is a 50% chance their child could inherit it. It affects both men and women, usually between ages 50 – 60.
WILD-TYPE (wtATTR-CM)
This form is not inherited and doesn’t result from a genetic mutation. Although the exact cause is unknown, it is thought to be linked with aging, most often seen in men over 60 years old. As people are living longer, this type is becoming more common. After 80, more women are diagnosed, as they tend to live longer.
SIGNS AND SYMPTOMS
The symptoms of ATTR-CM are often similar to those of other heart conditions, which can delay diagnosis. Some people may have no signs or only mild ones and go unnoticed for years, until the disease reaches a more advanced stage.
The condition can affect each person differently. Some common symptoms may include:
SHORTNESS OF BREATH
most common
FATIGUE
excessive tiredness
THICKENED TONGUE
GASTROINTESTINAL ISSUES
e.g., diarrhoea
CARPAL TUNNEL SYNDROME
a condition that causes pressure on a nerve in the wrist
NUMBNESS
strange tingling sensation, or pain in the toes or feet
SWELLING
in the lower legs
HOW IS ATTR-CM DIAGNOSED?
Because ATTR-CM shares symptoms with other heart conditions — and sometimes causes few or no noticeable symptoms at all — it can often be overlooked, which is why reaching a diagnosis can take time.
The good news is that with improved awareness and testing, it is possible to get a clear diagnosis and start appropriate treatment.
To confirm a diagnosis, your healthcare provider may perform a physical exam to assess your overall health, review your medical records and ask about your family’s health.
Additional tests to confirm a diagnosis of ATTR-CM may include:
- BLOOD TESTS – To check the levels of substances normally in the blood and to look for markers of amyloidosis or heart muscle damage.
- URINE TESTS – To help assess kidney function and rule out other forms of amyloidosis.
- GENETIC TESTING (blood or saliva) – Helps determine if ATTR-CM is hereditary or wild-type and can guide the decision whether other family members should consider getting tested too.
- TECHNETIUM-LABELLED CARDIAC SCINTIGRAPHY (99m Tc-PYP scan) – Uses a radioactive tracer (99mTc-PYP) that accumulates in amyloid deposits in the heart. While this is a similar technology to a bone scan, it does not involve the bones.
- TISSUE BIOPSY – Involves examining a small sample of heart tissue under a microscope to confirm the presence of amyloid deposits.
Additional tests may be needed to confirm a diagnosis of cardiomyopathy. Some patients might also need to use portable devices like Holter monitors or event monitors. These devices are typically worn for 24 to 48 hours to continuously record the heart’s electrical activity (EKG) during normal daily activities.
TREATING AND MANAGING ATTR-CM
While there is currently no cure for ATTR-CM, treatments can help slow the disease down by reducing or stopping the buildup of harmful proteins in the heart. They can also improve symptoms, support your heart’s function, and help manage complications like heart failure and heart rhythm issues.
Your medical team — which may include cardiologists, radiologists, neurologists, and other specialists — will work with you to create a treatment plan tailored to the type and severity of your condition.
Certain medicines can slow the disease from getting worse by stopping the protein from building up in the body. Others help relieve cardiomyopathy and/or heart failure symptoms like swelling from fluid buildup, irregular heartbeat, or high blood pressure — so you can feel better and stay more active.
People with a restrictive cardiomyopathy are also at increased risk for developing blood clots in their heart chambers, so in this situation anti-blood clotting drugs may be prescribed.
These include pacemakers for controlling heart rate and rhythm, implantable cardiac defibrillators (ICDs) that deliver a shock to the heart to correct life-threatening arrhythmia, and left ventricular assist devices (LVADs) to help pump blood from the heart’s left lower chamber (ventricle) to the rest of the body.
In severe cases, when all other treatments have failed to adequately improve the heart’s condition, a heart transplant may be the only option.
In some cases of hATTR-CM, a liver transplant may be considered to stop the production of the abnormal TTR protein, however this option is only used for the hereditary form.
Questions to Ask Your Doctor
As you begin managing ATTR-CM, it is essential to have open and detailed discussions with your healthcare provider. Consider these questions for a collaborative and informed approach to your care:
- Identifying the cause: Could ATTR-CM be causing my symptoms?
- Understanding the connection: I have heart failure, could this be caused by ATTR-CM?
- Clarifying the diagnosis and risks: What type of ATTR-CM am I diagnosed with and what complications could arise from my condition?
- Assessing disease severity: How severe is my ATTR-CM? Are other organs affected?
- Exploring genetic links: Should I have genetic testing? Should my family members?
- Navigating treatment choices: What are my treatment options, and what are their risks and benefits?
- Avoiding risks: Are there any medications I should avoid?
- Considering consequences: What happens if I don’t get treatment?
- Tailoring lifestyle adjustments: What lifestyle changes should I make?
- Planning ongoing care: How should I monitor my condition over time?
- Scheduling follow-ups: How often should I have routine visits with you?
- Recognizing red flags: When should I seek emergency care?
- Connecting with peers: How can I connect with other individuals facing ATTR-CM for support and shared experiences?
Additional Resources
Living with ATTR-CM Discussion Guide
Cardiomyopathy GoToGuide
