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

ABSTRACT:

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 pathogenic ATTR variants. All underwent structured evaluation in the cardiomyopathy (CM) clinic. The primary endpoint was a composite of all-cause mortality or heart/heart-liver transplantation.

Results

Among the 50 patients enrolled with ATTR, hereditary ATTR (hATTR) accounted for 53%. Within the hATTR group, the p.Ala117Ser variant was the most frequently identified p

SUBMITTER: Tuntiwongkosee P 

PROVIDER: S-EPMC12829060 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature