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ABOUT ATTR-CM
WHEN TO SUSPECT
How ATTR-CM is diagnosed
TALK TO YOUR DOCTOR
HEART TALKS: PATIENT STORIES
Educational resources
FOR CAREGIVERS
THE ROAD TO AN ATTR-CM DIAGNOSIS CAN BE COMPLEX AND FRUSTRATING

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 a number of different doctors before receiving the correct diagnosis.
IT'S IMPORTANT TO TALK TO YOUR DOCTOR IF YOU SUSPECT ATTR-CM

It's important to share any symptoms you are experiencing with your doctor. Diagnosing ATTR-CM early is important.

CLINICAL TESTS TO LOOK FOR SIGNS THAT MAY SUGGEST ATTR-CM
INITIAL TESTS

Your cardiologist may first order the following tests to assess how your heart is working and look for signs of ATTR-CM. These tests may include:

Electrocardiogram (ECG)
  • Reads electrical signals from your heart
  • Can reveal conditions like irregular heartbeat (i.e., atrial fibrillation), among other findings, that may be related to ATTR-CM
 Echocardiogram (ECHO)
  • 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 magnetic resonance imaging (Cardiac MRI)
  • Uses radio waves, magnets, and a computer to create images of your heart to look for abnormalities

While none of these tests are typically used to confirm an ATTR-CM diagnosis, they can help your doctor learn more about your heart and determine the need for additional diagnostic testing.

FAYE’S ROAD TO DIAGNOSIS
“MY CARDIOLOGIST DID AN ECG AND AN ECHOCARDIOGRAM, 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 amyloidosis (AL):

  • 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 non-invasive imaging test
  • A small amount of dye 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
  • Also referred to as a PYP (pyrophosphate) scan
 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 if they are TTR amyloid strands or not
  • Your doctor may also collect biopsies from other parts of your body, but a cardiac biopsy is more accurate to detect ATTR-CM
IF YOU ARE DIAGNOSED WITH ATTR-CM, GENETIC TESTING AND COUNSELLING IS RECOMMENDED TO DETERMINE WHETHER YOU HAVE THE WILD-TYPE OR HEREDITARY TYPE
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
  • Usually performed using blood or saliva samples

Genetic counselling before and after testing helps patients and their family members understand the test results and potential steps to take.

GENETIC TESTING AND COUNSELLING PROGRAMS MAY BE AVAILABLE TO ELIGIBLE PATIENTS AND THEIR RELATIVES AT NO COST.
RANDY’S TEST RESULTS
“WHEN THE GENETIC TEST RESULTS CAME BACK, I FOUND OUT THAT I HAVE THE HEREDITARY TYPE OF ATTR-CM.”

With ATTR-CM it’s important to be proactive. If you’re experiencing unresolved symptoms, talk to your doctor as soon as possible to confirm or rule out the disease.

Next: Talk to your doctor

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