[Diagnosis of amyloidosis]

Given the availability of highly effective treatment options, early diagnosis of cardiac amyloidosis is more important than ever. In many cases, the diagnosis can now be made non-invasively, provided that clinical suspicion is raised in a timely manner. Warning signs such as heart failure, bilateral carpal tunnel syndrome, spinal stenosis, or an abnormal voltage-to-mass ratio on the ECG should prompt further investigation. Echocardiography allows for the detection of typical morphological and functional changes, while the simultaneous exclusion of monoclonal gammopathy via three simple laboratory tests determines the subsequent diagnostic pathway. If the laboratory findings are normal, SPECT/CT enables a non-invasive diagnosis of ATTR cardiomyopathy; however, if the imaging is negative and suspicion persists, a biopsy remains indicated. A cardiac MRI is particularly valuable when echocardiographic findings are inconclusive or there is suspicion of AL cardiomyopathy. New diagnostic approaches based on extracardiac manifestations and incidental findings on MRI also open the possibility of identifying affected individuals even before the onset of cardiac symptoms. Amyloid-binding PET tracers show promise for the future non-invasive diagnosis of both forms of amyloidosis, but still require prospective validation studies.