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).

doi:10.1186/s13023-024-03281-z

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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).

Orphanet journal of rare diseases - 20 Jul 2024

Fernandes Fábio, Luzuriaga Georgina Del Cisne Jadán, da Fonseca Guilherme Wesley Peixoto, Correia Edileide Barros, Carvalho Alzira Alves Siqueira, Macedo Ariane Vieira Scarlatelli, Coelho-Filho Otavio Rizzi, Scheinberg Phillip, Antunes Murillo Oliveira, Schwartzmann Pedro Vellosa, Mangini Sandrigo, Marques Wilson, Simões Marcus Vinicius

Abstract excerpt

BACKGROUND: Transthyretin amyloidosis (ATTR) is a multisystem disease caused by the deposition of fibrillar protein in organs and tissues. ATTR genotypes and phenotypes are highly heterogeneous. We present data on physical signs and symptoms, cardiac and neurological assessments and genetic profile of patients enrolled in the Transthyretin Cardiac Amyloidosis Registry of the State of São Paulo, Brazil. RESULTS:...

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PMID: 39033298
DOI: 10.1186/s13023-024-03281-z
PMCID: PMC11264909

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Source receipt: pubmed, retrieved 7 Sept 2026.

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