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Updated: May 22, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Current Landscape of Therapies for Transthyretin Amyloid Cardiomyopathy
Jan M Griffin1, Justin L Grodin2, Frederick L Ruberg3
1Medical University of South Carolina, Charleston, South Carolina, USA.
Abstract:
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an infiltrative cardiomyopathy that results from myocardial deposition of misfolded transthyretin (TTR) protein. The biology of amyloid formation has been elucidated resulting in several effective therapeutic strategies. Accordingly, the therapeutic landscape for ATTR-CM is rapidly evolving, with multiple disease-modifying therapies (DMTs) approved and others anticipated to be imminently available. Currently, DMT strategies involve either stabilization of TTR, thereby inhibiting misfolding, or reduction of hepatic TTR production, and antibodies ("depleters") that facilitate amyloid fibril removal are under development. In this review, available evidence is synthesized and expert experience provided to assist clinicians in the complex navigation of treatment selection and the role of advanced therapies (heart transplantation and left ventricular assist device), as well as to identify key areas for future research.
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