Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).

Fábio Fernandes Georgina Del Cisne Jadán Luzuriaga Guilherme Wesley Peixoto da FonsecaEdileide Barros CorreiaAlzira Alves Siqueira CarvalhoAriane Vieira Scarlatelli MacedoOtavio Rizzi Coelho-FilhoPhillip ScheinbergMurillo Oliveira AntunesPedro Vellosa SchwartzmannSandrigo ManginiWilson MarquesMarcus Vinicius Simões

Published in: Orphanet journal of rare diseases (2024)

This study details the clinical and genetic spectrum of patients with ATTR in São Paulo, Brazil. This preliminary analysis highlights the considerable phenotypic heterogeneity of neurological and cardiac manifestations in patients with variant and wild-type ATTR.

Keyphrases

wild type
left ventricular
genome wide
multiple myeloma
copy number
dna methylation
brain injury