ABSTRACT
Cardiac amyloidosis is an under-recognised cause of heart failure with preserved ejection fraction and is more common in older patients. With new disease-modifying treatments available, early and accurate diagnosis is crucial to improve outcomes. Patients should be referred to a specialist or specialised amyloidosis clinic.
KEY POINTS
- Transthyretin amyloidosis with cardiac involvement is common, particularly in older men presenting with heart failure with preserved ejection fraction.
- The diagnosis is often delayed or missed without a high degree of suspicion.
- Red flags include prior bilateral carpal tunnel release, spinal canal stenosis and biceps tendon rupture.
- A family history, especially in patients presenting with neurological symptoms, suggests hereditary transthyretin amyloidosis.
- Initial investigations include echocardiography and bone scintigraphy with single-photon emission CT. A serum and urine monoclonal gammopathy screen is required to ensure that a diagnosis of light chain amyloidosis is not missed.
- Specific disease-modifying therapy for transthyretin cardiac amyloidosis is now available in Australia. Further novel treatments can be accessed through clinical trials at specialist amyloidosis clinics.