Cardiac amyloidosis: Innovations in diagnosis and treatment.

Abstract

Cardiac amyloidosis (CA) is a progressive, underdiagnosed condition caused by the deposition of misfolded proteins in the myocardium, forming amyloid fibrils that impair cardiac structure and function. This review highlights recent advances in the diagnosis and treatment of amyloid light-chain (AL) and transthyretin (ATTR) CA, which globally account for most cases of CA. Novel diagnostic tools, including artificial intelligence-enhanced analysis and advanced imaging modalities like positron emission tomography with amyloid-specific tracers, might improve detection rates and diagnostic accuracy to enable non-invasive subtype differentiation. Furthermore, many innovative treatments are being investigated. For AL-CA, anti-fibril therapies are showing promising results, complementing traditional chemotherapy and autologous stem cell transplantation. In ATTR-CA, gene silencing and anti-fibril therapies are being tested in clinical trials and hold promise of halting disease progression and reducing amyloid deposits, respectively.