| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2377 |
| DOI: |
10.1186/s12883-022-02952-3 |
| Popis: |
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 most common manifestations, leading to severe disability and ultimately death within approximately ten years. As disease-modifying treatment options evolve, timely diagnosis and treatment initiation are crucial to prevent rapid disease progression. Case presentation Here, we report on a 73-year old patient initially diagnosed with cardiac wild-type ATTR (ATTRwt) amyloidosis by endomyocardial biopsy. Molecular genetic analysis revealed a novel TTR sequence variant (p.Ala65Val) that is highly likely to be amyloidogenic in light of previously reported TTR mutations and the patient’s clinical presentation and family history. Conclusions Our findings expand the spectrum of known pathogenic TTR mutations and underline the importance of a thorough diagnostic workup in amyloidosis patients including careful genetic testing to avoid misdiagnosis and missing of treatment opportunities and to enable cascade testing and tracking of carriers. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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