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The phenotypic landscape of p.Ala117Ser transthyretin amyloidosis: distinct clinical profiles and outcomes versus wild-type ATTR.

BMC cardiovascular disorders - 18 Dec 2025

Tuntiwongkosee Phakin, Kochaiyapatana Patchara, Phowthongkum Prasit, Amornvit Jakkrit, Saicharoen Khanidta, Chattranukulchai Pairoj, Chettakulanurak Krailerk, Puwanant Sarinya

Abstract excerpt

BACKGROUND: This study aimed to (1) compare the clinical phenotype and outcomes of patients with transthyretin amyloidosis (ATTR) harboring the p.Ala117Ser variant versus those with wild-type ATTR (wtATTR), and (2) delineate the clinical spectrum of ATTR at our institution. METHODS: We conducted a single-center observational study of 43 consecutive symptomatic ATTR patients and 7 asymptomatic carriers of...

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Identifiers

PMID: 41413770
DOI: 10.1186/s12872-025-05313-3
PMCID: PMC12829060

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TTR

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