Advances in the screening, diagnosis, and treatment of transthyretin amyloid cardiomyopathy: New insights and future directions.

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive form of heart failure caused by myocardial tissue infiltration with fibrillar amyloid deposits. ATTR-CM has been traditionally underrecognized and regarded by clinicians as a challenging condition to manage, owing to limited availability of effective screening methods, diagnostic testing, and therapeutic options. More recently, multiple clinical trials have emerged evaluating the efficacy of novel pharmacologic therapies which target amyloid generation and pre-existing amyloid deposits. Results reveal robust treatment benefits in function and survival, offering clinicians and patients new therapeutics which alter the clinical trajectory of ATTR-CM. Importantly, the benefits of treatment with these therapies appear to be more pronounced when initiated at an early stage of disease. As a result, a renewed interest in the early detection of ATTR-CM has developed, with efforts currently underway to promote increased disease awareness and enhance diagnosis through standardized screening algorithms and advanced imaging techniques. This review will provide an in-depth description of the advancements in ATTR-CM screening, diagnosis, and treatment that are currently available for implementation in routine care. Furthermore, we highlight several investigational modalities on the horizon for ATTR-CM with a particular focus on their potential roles in future clinical practice.