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Updated: Jan 29, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Tafamidis for the treatment of transthyretin amyloidosis
Massimiliano Lorenzini1,2, Perry M Elliott1
1University College London Institute for Cardiovascular Science & Barts Heart Centre, St Bartholomew's Hospital, London, UK.
Abstract:
Transthyretin (TTR) related cardiomyopathy is an underdiagnosed cause of heart failure but is increasingly recognized in various settings - from patients admitted with heart failure to symptomatic aortic stenosis - and is rapidly becoming the most frequent form of systemic amyloidosis. Following the recent publication of the landmark ATTR-ACT trial that showed tafamidis to be the first treatment to improve survival in patients with TTR-related cardiac amyloidosis and heart failure, we reviewed the drug's rationale, characteristics and evidence supporting its use in TTR amyloidosis.
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