There are several tests used to help determine whether cardiac amyloidosis is wild-type (wtATTR) or hereditary (hATTR). Here's a breakdown of the key ones:
Imaging Tests
- Cardiac PYP Scan – A noninvasive nuclear scan that uses a radioactive tracer to light up areas of ATTR amyloid buildup in the heart. A positive result Show Full Answer
There are several tests used to help determine whether cardiac amyloidosis is wild-type (wtATTR) or hereditary (hATTR). Here's a breakdown of the key ones:
Imaging Tests
- Cardiac PYP Scan – A noninvasive nuclear scan that uses a radioactive tracer to light up areas of ATTR amyloid buildup in the heart. A positive result points toward ATTR amyloidosis (either wild-type or hereditary)
- Echocardiogram – Uses sound waves to show heart structure and function, revealing thickening or stiffness caused by amyloid deposits
- Cardiac MRI – Provides detailed images of the heart's structure to detect amyloid-related changes
Blood & Lab Tests
- Monoclonal protein test – Checks for abnormal light chain proteins. If the PYP scan is positive *and* no light chains are found, wild-type amyloidosis is more likely
- Troponin & natriuretic peptide (BNP/NT-proBNP) – These biomarkers help assess heart damage and stress caused by amyloid deposits
Genetic Testing
- A blood or saliva sample is tested for changes in the TTR gene. If a mutation is found, it confirms hereditary ATTR amyloidosis. If no mutation is present, the diagnosis is more likely wild-type In some cases, a biopsy may still be needed — either a fat pad biopsy (from belly fat) or a heart tissue biopsy — to confirm amyloid deposits. However, with modern noninvasive tools like the PYP scan, biopsies are needed less often.
Genetic testing is really the key step in telling wild-type and hereditary apart, so it's worth asking a doctor about if that distinction hasn't been confirmed yet.
June 2
Continue with Facebook
Continue with Email
Join
Your Privacy Choices
