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Article

First Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant.

Scandinavian cardiovascular journal : SCJ - 1 Dec 2023

Lyng Camilla Simonsen, Gude Einar, Hodt Anders, Knudsen Eva Cecilie

Abstract excerpt

An earlier healthy 64-year-old man with previous surgery for bilateral carpal tunnel syndrome (CTS) in his 50s, presented with dyspnoea on exertion. Cardiac amyloidosis was suspected due to "red flag" signs and symptoms. Further investigations with scintigraphy and genetic testing confirmed the diagnosis of hereditary ATTR variant (ATTRv) amyloidosis. This is the first case report of ATTRv amyloidosis in a...

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PMID: 36734834
DOI: 10.1080/14017431.2023.2174269

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