A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report

A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report

Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, genetically heterogeneous and phenotypically variable systemic disease characterized by deposition of misfolded transthyretin fibrils in various tissues. ATTRv cardiomyopathy and progressive axonal polyneuropathy are the mos...

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Bibliographic Details
Main Authors: Andreas Thimm, Sara Oubari, Julia Hoffmann, Alexander Carpinteiro, Maria Papathanasiou, Peter Luedike, Lukas Kessler, Christoph Rischpler, Christoph Röcken, Isabel Diebold, Tienush Rassaf, Hartmut Schmidt, Christoph Kleinschnitz, Tim Hagenacker
Format: Article
Language:English
Published: BMC 2022-12-01
Series:BMC Neurology
Subjects:
Amyloid cardiomyopathy
Amyloid neuropathy
TTR mutation
Tafamidis
Patisiran
Case report
Online Access:https://doi.org/10.1186/s12883-022-02952-3

Internet

https://doi.org/10.1186/s12883-022-02952-3

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