Cardiac amyloidosis: From diagnosis to therapeutics breakthroughs

Abstract

Cardiac amyloidosis (CA) is a progressive infiltrative cardiomyopathy resulting from the deposition of misfolded amyloid fibrils in the myocardium and heart valves, with the main forms being amyloid light-chain (AL), transthyretin-related (ATTR) (wild-type or hereditary), and amyloid A amyloidosis. Although historically underdiagnosed, recent advances in non-invasive imaging techniques such as cardiac magnetic resonance imaging and bone scintigraphy have significantly improved its recognition. This review outlines the current diagnostic approaches and therapeutic advancements in CA, emphasizing a multimodal strategy that includes imaging, cardiac biomarkers, and tissue biopsy with precise amyloid subtyping. Diagnosis remains challenging and requires a high degree of clinical suspicion, as delayed recognition can lead to rapid clinical deterioration. Clear diagnostic algorithms and a multidisciplinary care model are essential to improving outcomes. AL amyloidosis is primarily managed with chemotherapy and, when appropriate, stem cell transplantation, while tafamidis is currently the only approved treatment for ATTR amyloidosis, though new therapeutic agents are in development. Overall, recent progress in diagnosis and treatment has enhanced patient outcomes, and early detection combined with coordinated care is key to managing this complex condition.

Keywords: Cardiac amyloidosis; Light chains; Transthyretin; Diagnosis; Treatment

Core Tip: This review highlights recent advances in cardiac amyloidosis (CA), a progressive infiltrative cardiomyopathy caused by amyloid fibril deposition in cardiac tissues. Improved recognition through advanced non-invasive imaging techniques and significant progress in disease-modifying therapies have transformed diagnosis and treatment. A multimodal diagnostic strategy and early identification are critical to improving patient outcomes. The review emphasizes the need for standardized diagnostic algorithms, increased clinical awareness, and a multidisciplinary approach to optimize care for patients with CA.