His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.

ABSTRACT: Variant transthyretin amyloidosis cardiomyopathy (ATTRv-CM) is a rare form of cardiac amyloidosis associated with many possible mutations in the transthyretin gene, presenting as various distinct clinical phenotypes. Among these, the His108Arg mutation is the most prevalent TTR variant in Austria. However, data describing its clinical phenotype are lacking. This study aims to describe the characteristics, clinical manifestations, and outcomes of patients with the His108Arg variant focusing on cardiac involvement, disease progression, response to therapy, and imaging findings. Methods: Patients were enrolled from a prospective cardiac amyloidosis registry. The baseline assessment included comprehensive echocardiography, cardiac magnetic resonance imaging, a biomarker analysis, and a

SUBMITTER: Binder C 

PROVIDER: S-EPMC11728263 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature