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Updated: Sep 13, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
From pathophysiology to treatment in transthyretin cardiac amyloidosis
Ânia Correia-Rodrigues1, Teresa Ribeiro-Rodrigues1, Lino Gonçalves2
1Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Clinical and Academic Centre of Coimbra (CACC), Coimbra, Portugal.
Amyloid transthyretin (ATTR) amyloidosis is a progressive and multifaceted disorder characterized by extracellular deposition of misfolded transthyretin (TTR) in tissues, leading to irreversible damage. The rising prevalence of this disease underscores the urgent need for a deeper understanding of its complex pathology to improve diagnosis and treatment strategies. This Review explores the cellular and molecular mechanisms underlying ATTR cardiac amyloidosis (ATTR-CA), delving into the processes driving disease progression, exploring the recent progress in the experimental models used to study ATTR-CA, and highlights advances in diagnostic tools and therapeutic strategies. By integrating the latest insights, this Review aims to provide a holistic and comprehensive understanding of ATTR-CA, offering an integrated perspective on research progresses and improvements in patient outcomes.
Amyloid transthyretin (ATTR) amyloidosis is a progressive and multifaceted disorder characterized by extracellular deposition of misfolded transthyretin (TTR) in tissues, leading to irreversible damage. The rising prevalence of this disease underscores the urgent need for a deeper understanding of its complex pathology to improve diagnosis and treatment strategies. This Review explores the cellular and molecular mechanisms underlying ATTR cardiac amyloidosis (ATTR-CA), delving into the processes driving disease progression, exploring the recent progress in the experimental models used to study ATTR-CA, and highlights advances in diagnostic tools and therapeutic strategies. By integrating the latest insights, this Review aims to provide a holistic and comprehensive understanding of ATTR-CA, offering an integrated perspective on research progresses and improvements in patient outcomes.
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