Bibliographic Details
| Title: |
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) |
| Authors: |
Fábio Fernandes, Georgina del Cisne Jadán Luzuriaga, Guilherme Wesley Peixoto da Fonseca, Edileide Barros Correia, Alzira Alves Siqueira Carvalho, Ariane Vieira Scarlatelli Macedo, Otavio Rizzi Coelho-Filho, Phillip Scheinberg, Murillo Oliveira Antunes, Pedro Vellosa Schwartzmann, Sandrigo Mangini, Wilson Marques, Marcus Vinicius Simões |
| Source: |
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024) |
| Publisher Information: |
BMC, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Medicine |
| Subject Terms: |
Cardiac Amyloidosis, Epidemiology, Polyneuropathy, Registry, Transthyretin Amyloidosis, Medicine |
| More Details: |
Abstract 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 Six hundred-forty-four patients were enrolled, 505 with the variant form (ATTRv) and 139 with wild-type (ATTRwt). Eleven different mutations were detected, the most common being Val50Met (47.5%) and V142Ile (39.2%). Overall, more than half of the patients presented cardiac involvement, and the difference in this proportion between the ATTRv and ATTRwt groups was significant (43.9 vs. 89.9%; p |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1750-1172 |
| Relation: |
https://doaj.org/toc/1750-1172 |
| DOI: |
10.1186/s13023-024-03281-z |
| Access URL: |
https://doaj.org/article/13652cdb50a54f85899e744d9db684ce |
| Accession Number: |
edsdoj.13652cdb50a54f85899e744d9db684ce |
| Database: |
Directory of Open Access Journals |
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