Publication:
Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker

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dc.contributor.authorLopez-Sainz, Angela
dc.contributor.authorCliment, Vicente
dc.contributor.authorRipoll-Vera, Tomás
dc.contributor.authorAngeles Espinosa, Maria
dc.contributor.authorBarriales-Villa, Roberto
dc.contributor.authorNavarro, Marina
dc.contributor.authorLimeres, Javier
dc.contributor.authorDomingo, Diana
dc.contributor.authorKasper, David C
dc.contributor.authorGarcia-Pavia, Pablo
dc.date.accessioned2024-09-10T13:06:53Z
dc.date.available2024-09-10T13:06:53Z
dc.date.issued2019-07-08
dc.description.abstractIdentification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations, offering a possible earlier diagnosis.We studied the prevalence of FD in 188 patients <70years with conduction problems requiring pacemaker implantation. Although classical manifestations of FD were not rare, no patient with FD was identified. Screening efforts should not be conducted in this population.en
dc.description.sponsorshipThis work was partially supported by grants from Genzyme-Sanofi (Investigator Initiated Research Grant 2017) and by the Instituto de Salud Carlos III (PI17/01941). Funders played no role in the design, collection, analysis, or interpretation of the data or in the decision to submit the manuscript for publication.es_ES
dc.format.page170es_ES
dc.format.volume14es_ES
dc.identifier.citationLopez-Sainz A, Climent V, Ripoll-Vera T, Espinosa MA, Barriales-Villa R, Navarro M, et al. D249 [letter]. Orphanet J Rare Dis. 2019 Jul 08;14.170.en
dc.identifier.doi10.1186/s13023-019-1140-3
dc.identifier.issn1750-1172
dc.identifier.journalOrphanet Journal of Rare Diseaseses_ES
dc.identifier.otherhttp://hdl.handle.net/20.500.13003/15942
dc.identifier.pubmedID31286959es_ES
dc.identifier.puiL628451879
dc.identifier.scopus2-s2.0-85068870122
dc.identifier.urihttps://hdl.handle.net/20.500.12105/22657
dc.identifier.wos475683800001
dc.language.isoengen
dc.publisherBioMed Central (BMC)
dc.relation.publisherversionhttps://dx.doi.org/10.1186/s13023-019-1140-3en
dc.rights.accessRightsopen accessen
dc.rights.licenseAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectFabry disease
dc.subjectConduction disease
dc.subjectPacemaker
dc.subjectLeft ventricular hypertrophy
dc.subjectScreening
dc.subject.decsEcocardiografía*
dc.subject.decsCardiomiopatía Hipertrófica*
dc.subject.decsMarcapaso Artificial*
dc.subject.decsHumanos*
dc.subject.decsPersona de Mediana Edad*
dc.subject.decsEnfermedad de Fabry*
dc.subject.decsAnciano*
dc.subject.decsFemenino*
dc.subject.decsMutación*
dc.subject.decsMasculino*
dc.subject.meshAged*
dc.subject.meshMale*
dc.subject.meshPacemaker, Artificial*
dc.subject.meshMutation*
dc.subject.meshFemale*
dc.subject.meshHumans*
dc.subject.meshCardiomyopathy, Hypertrophic*
dc.subject.meshEchocardiography*
dc.subject.meshFabry Disease*
dc.subject.meshMiddle Aged*
dc.titleNegative screening of Fabry disease in patients with conduction disorders requiring a pacemakeren
dc.typeletter to the editoren
dspace.entity.typePublication
relation.isAuthorOfPublication52ada1ee-7241-4738-b46d-90a5ccc14894
relation.isAuthorOfPublication.latestForDiscovery52ada1ee-7241-4738-b46d-90a5ccc14894
relation.isPublisherOfPublication4fe896aa-347b-437b-a45b-95f4b60d9fd3
relation.isPublisherOfPublication.latestForDiscovery4fe896aa-347b-437b-a45b-95f4b60d9fd3

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INIBIC - Instituto de Investigación Biomédica A Coruña (Galicia)
ISABIAL - Instituto de Investigación de Sanitaria y Biomédica de Alicante (C. Valenciana)