Description
ATTR-CM is a serious but often underdiagnosed condition caused by the buildup of transthyretin amyloid protein in the heart. Over time, this buildup can lead to heart failure, arrhythmias, and reduced quality of life. The disease can be either hereditary (caused by a genetic mutation) or wild-type (age-related and not inherited).
Because ATTR-CM shares symptoms with other, more common heart conditions, early and accurate testing is essential for effective treatment.
Why You Should Consider Testing for ATTR-CM
Early Detection Is Key
- Early diagnosis allows for treatment that may slow disease progression, improve heart function, and extend quality of life.
- Once symptoms progress, irreversible damage can occur—making early detection critical.
Symptoms Are Often Misleading
- ATTR-CM symptoms are non-specific and easily mistaken for other heart conditions, such as:
- Shortness of breath
- Fatigue
- Swelling in the legs or ankles
- Irregular heartbeat
- Carpal tunnel syndrome (especially if bilateral)
- Unexplained weight loss
Family History Matters
- If you have a family history of amyloidosis or unexplained heart failure, a genetic test can identify the hereditary form of ATTR-CM.
- Identifying a genetic mutation can also help guide screening and prevention for first-degree relatives.
Know Your Risk Factors
- Age over 60
- Male sex
- African American ancestry (higher prevalence of the V122I mutation)
- History of bilateral carpal tunnel syndrome or spinal stenosis
What the Test Involves
- A simple saliva or blood test to detect TTR gene mutations (for hereditary ATTR-CM)
- Turnaround time: 4–6 weeks
- No fasting required
Who Should Get Tested
- Individuals with unexplained heart failure or preserved ejection fraction (HFpEF)
- People with a family history of ATTR-CM or amyloidosis
- Anyone experiencing symptoms suggestive of amyloid buildup
- African American men over 60, especially with cardiac symptoms
