Awareness of Fabry disease in cardiology

Detalhes bibliográficos
Autor(a) principal: Brito, Dulce
Data de Publicação: 2018
Outros Autores: Cardim, Nuno, Lopes, Luís Rocha, Belo, Adriana, Mimoso, Jorge, Gonçalves, Lino, Madeira, Hugo
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/148265
Resumo: Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.
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spelling Awareness of Fabry disease in cardiologyA gap to be filledDoença de FabryFabry diseaseHipertrofia ventricular esquerdaHypertrophic cardiomyopathyLeft ventricular hypertrophyMiocardiopatia hipertróficaRegistoRegistryCopyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.INTRODUCTION: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists' awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy. METHODS: A total of 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups were characterized: A - 128 patients, 74 (57.8%) male, with pathogenic or likely pathogenic mutation(s) in sarcomeric genes; B - 234 patients, 146 (62.4%) male, with negative genetic testing; and C - 449 patients, 266 (59.2%) male, no genetic testing performed. The groups were compared in terms of whether FD was excluded in the registry. Potential red flags for FD were also analyzed and compared between groups. RESULTS: Patients in group A were younger and more frequently had familial HCM (A - 53.9% vs. B - 20.1% vs. C - 18.3%; p <0.001). FD was recorded as excluded in 217 (26.8%), similar in all groups; GLA gene testing was performed in only 50/217 patients (A - 48.6%, B - 25.7%, p = 0.019; C - 13.4%, p = 0.036 for B vs. C), mostly in women (p <0.001) in groups B and C. Alpha-galactosidase A (α-Gal A) activity was assessed in 39/217 (18%) patients, with no difference between groups, but more often in men (p = 0.005). Among patients with potential red flags for FD, only 46.7% underwent specific tests (GLA gene testing and/or α-Gal A activity). When GLA genotyping was performed no mutations were identified. CONCLUSIONS: There is a need to improve cardiologists' alertness for the identification of FD among the Portuguese HCM population.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNBrito, DulceCardim, NunoLopes, Luís RochaBelo, AdrianaMimoso, JorgeGonçalves, LinoMadeira, Hugo2023-01-27T22:10:11Z2018-062018-06-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10application/pdfhttp://hdl.handle.net/10362/148265eng0870-2551PURE: 4313813https://doi.org/10.1016/j.repc.2018.03.010info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:29:40Zoai:run.unl.pt:10362/148265Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:53:18.246759Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Awareness of Fabry disease in cardiology
A gap to be filled
title Awareness of Fabry disease in cardiology
spellingShingle Awareness of Fabry disease in cardiology
Brito, Dulce
Doença de Fabry
Fabry disease
Hipertrofia ventricular esquerda
Hypertrophic cardiomyopathy
Left ventricular hypertrophy
Miocardiopatia hipertrófica
Registo
Registry
title_short Awareness of Fabry disease in cardiology
title_full Awareness of Fabry disease in cardiology
title_fullStr Awareness of Fabry disease in cardiology
title_full_unstemmed Awareness of Fabry disease in cardiology
title_sort Awareness of Fabry disease in cardiology
author Brito, Dulce
author_facet Brito, Dulce
Cardim, Nuno
Lopes, Luís Rocha
Belo, Adriana
Mimoso, Jorge
Gonçalves, Lino
Madeira, Hugo
author_role author
author2 Cardim, Nuno
Lopes, Luís Rocha
Belo, Adriana
Mimoso, Jorge
Gonçalves, Lino
Madeira, Hugo
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Brito, Dulce
Cardim, Nuno
Lopes, Luís Rocha
Belo, Adriana
Mimoso, Jorge
Gonçalves, Lino
Madeira, Hugo
dc.subject.por.fl_str_mv Doença de Fabry
Fabry disease
Hipertrofia ventricular esquerda
Hypertrophic cardiomyopathy
Left ventricular hypertrophy
Miocardiopatia hipertrófica
Registo
Registry
topic Doença de Fabry
Fabry disease
Hipertrofia ventricular esquerda
Hypertrophic cardiomyopathy
Left ventricular hypertrophy
Miocardiopatia hipertrófica
Registo
Registry
description Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.
publishDate 2018
dc.date.none.fl_str_mv 2018-06
2018-06-01T00:00:00Z
2023-01-27T22:10:11Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/148265
url http://hdl.handle.net/10362/148265
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 0870-2551
PURE: 4313813
https://doi.org/10.1016/j.repc.2018.03.010
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 10
application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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