Amyloidosis is a progressive infiltrative disease instigated by the extracellular deposition of amyloid fibrils in various organs such as the heart, kidney, and peripheral nerves. Cardiac amyloid deposits cause restrictive cardiomyopathy, leading to a poor prognosis in systemic amyloidosis. The most common etiologies of cardiac amyloidosis (CA) are immunoglobulin light chain deposits (AL-CA) and misfolded transthyretin deposits (ATTR-CA). In recent years, many developments have been accomplished in the field of diagnosis and treatment of CA. At present, ATTR-CA can be noninvasively diagnosed if the following two conditions are fulfilled in the setting of typical echocardiographic/cardiac MRI findings: (1) grade 2 or 3 myocardial uptake in bone scintigraphy confirmed by SPECT and (2) absence of monoclonal protein confirmed by serum-free light chain assay, and serum/urine protein electrophoresis with immunofixation test. Effective therapies are evolving in both types of CA (tafamidis for ATTR-CA and immunologic treatments for AL-CA). Thus, early suspicion and prompt diagnosis are crucial for achieving better outcomes. In this review, we have summarized the role of multimodal imaging (e.g., echocardiography, cardiac MRI, and bone scintigraphy) and biomarkers (e.g., troponin, BNP) in the diagnosis, risk stratification, and treatment monitoring of CA.
Keywords: amyloidosis; biomarkers; immunoglobulin light chain amyloidosis; multimodal imaging; transthyretin amyloidosis.