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Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.

Open heart - 11 Nov 2024

Hewitt Katie, Starr Neasa, Togher Zara, Sulong Saadah, Morris Joseph P, Alexander Michael, Coyne Mark, Murphy Katie, Giblin Gerard, Murphy Sinéad M, Joyce Emer

Abstract excerpt

BACKGROUND: Variant transthyretin amyloidosis (ATTRv) is a hereditary multisystem disorder with clinical spectrum ranging from predominant cardiomyopathy to polyneuropathy. In the Irish population, the T60A mutation has been previously recognised as the most common genotype. OBJECTIVES: The aim of this study is to describe the diagnostic and phenotypic spectrum of patients with T60A ATTRv attending an Irish...

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Identifiers

PMID: 39532466
DOI: 10.1136/openhrt-2024-002906
PMCID: PMC11555102

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