get the picture
diagnosing
attr‑cm
If your doctor suspects ATTR‑CM, they may conduct certain tests to help confirm a diagnosis.
The road to an ATTR‑CM diagnosis can be complex. Share all your symptoms with your doctor
Awareness among patients, and even physicians, remains low, which results in ATTR‑CM being significantly underdiagnosed.
Underdiagnosis and delayed diagnosis occur because the symptoms of ATTR‑CM mimic those of other more common causes of heart failure.
Some ATTR‑CM patients report visiting up to 5 different doctors before receiving the correct diagnosis.*
*2017 survey conducted by the Amyloidosis Research Consortium and prior to an available treatment option.
It’s important to talk to your doctor if you suspect ATTR‑CM
Clinical tests to look for signs that may suggest ATTR‑CM
ECG
Electrocardiogram
- Reads electrical signals from your heart
- Can reveal conditions like irregular heartbeat (ie, atrial fibrillation), among other findings, that may be related to ATTR‑CM
ECHO
Echocardiogram
- Uses sound waves to create images of your heart
- Findings help determine the speed and direction of blood flow in the heart
- Findings associated with ATTR‑CM include, but are not limited to, heart failure with preserved ejection fraction (HFpEF), which relates to the amount of blood that passes through the heart with each beat
Cardiac MRI
Cardiac magnetic
resonance imaging
- Uses radio waves, magnets, and a computer to create images of your heart to look for abnormalities
Faye’s road to diagnosis
which led me to my ATTR‑CM diagnosis.”
Ruling out another type of
amyloidosis affecting your heart
Your doctor must rule out another form of cardiac amyloidosis, known as light-chain (AL) amyloidosis:
- This is an important step, as AL amyloidosis and ATTR‑CM are managed in different ways
- AL amyloidosis is ruled out using blood and urine tests
Diagnostic tests
Once AL amyloidosis is ruled out, your doctor may use the following tests to diagnose ATTR-CM:
Nuclear scintigraphy
A noninvasive imaging test
- A substance called a tracer is injected into your body
- After 1-3 hours, a special camera takes images of your body
- These images can help your doctor understand if transthyretin (TTR) amyloid fibrils are present in your heart
- This test is also referred to as a PYP (pyrophosphate) scan
- PYP is not FDA approved for the diagnosis of ATTR‑CM. Please consult individual labeling for risks
Cardiac biopsy
Samples taken from your
heart muscle tissue
- Your cardiologist conducts the biopsy while you are awake
- If amyloid fibrils are found in the removed tissue sample, it is sent out to a lab
- The lab can help determine whether or not they are TTR amyloid strands
- Your doctor may also do biopsies from other parts of your body—but a cardiac biopsy is more accurate to detect ATTR‑CM
The importance of genetic testing
If you are diagnosed with ATTR-CM, genetic testing and counseling are recommended to confirm or rule out the hereditary form of ATTR-CM
Genetic testing
- Will help confirm or rule out the hereditary form of ATTR‑CM (hATTR)
- Determines whether family members are at risk, as the mutation that causes hATTR can be passed down
- Is usually performed using blood or saliva samples
Genetic testing and counseling programs may be available to eligible patients and their relatives at no cost.
Voices for the Heart
Learn more about hereditary ATTR‑CM and Voices for the Heart community events.