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Awareness of Fabry disease in cardiology

2018-06Artigo científico Acesso aberto
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dc.contributor.authorBrito, Dulce
dc.contributor.authorCardim, Nuno
dc.contributor.authorCardim, Nuno
dc.contributor.authorLopes, Luís Rocha
dc.contributor.authorBelo, Adriana
dc.contributor.authorMimoso, Jorge
dc.contributor.authorGonçalves, Lino
dc.contributor.authorMadeira, Hugo
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblSociedade Portuguesa de Cardiologia | Elsevier
dc.date.accessioned2023-01-27T22:10:11Z
dc.date.available2023-01-27T22:10:11Z
dc.date.issued2018-06
dc.descriptionCopyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.
dc.description.abstractINTRODUCTION: 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.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent10
dc.format.extent825018
dc.identifier.doi10.1016/j.repc.2018.03.010
dc.identifier.issn0870-2551
dc.identifier.otherPURE: 4313813
dc.identifier.otherPURE UUID: 780dd291-f337-4172-b6c1-5622cc6e10f4
dc.identifier.otherPubMed: 29801713
dc.identifier.otherWOS: 000437849800001
dc.identifier.otherScopus: 85048796317
dc.identifier.urihttp://hdl.handle.net/10362/148265
dc.language.isoeng
dc.peerreviewedyes
dc.subjectDoença de Fabry
dc.subjectFabry disease
dc.subjectHipertrofia ventricular esquerda
dc.subjectHypertrophic cardiomyopathy
dc.subjectLeft ventricular hypertrophy
dc.subjectMiocardiopatia hipertrófica
dc.subjectRegisto
dc.subjectRegistry
dc.titleAwareness of Fabry disease in cardiologyen
dc.title.subtitleA gap to be filleden
dc.typejournal article
degois.publication.firstPage457
degois.publication.issue6
degois.publication.lastPage466
degois.publication.titleRevista Portuguesa de Cardiologia
degois.publication.volume37
dspace.entity.typePublication
person.familyNameCardim
person.givenNameNuno
person.identifier.orcid0000-0002-3812-4872
rcaap.rightsopenAccess
relation.isAuthorOfPublicationbcbf3f33-253a-4b76-a55f-23e4caf28001
relation.isAuthorOfPublication.latestForDiscoverybcbf3f33-253a-4b76-a55f-23e4caf28001

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