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

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dc.contributor.author López-Sainz, Ángela
dc.contributor.author Climent, Vicente
dc.contributor.author Ripoll-Vera, Tomas
dc.contributor.author Espinosa, Maria-Ángeles
dc.contributor.author Barriales-Villa, Roberto
dc.contributor.author Navarro, Marina
dc.contributor.author Limeres, Javier
dc.contributor.author Domingo, Diana
dc.contributor.author Kasper, David-C
dc.contributor.author García-Pavia, Pablo
dc.date.accessioned 2026-01-22T07:32:01Z
dc.date.available 2026-01-22T07:32:01Z
dc.date.issued 2019-07-08
dc.identifier.citation López-Sainz Á, Climent V, Ripoll-Vera T, Espinosa MA, Barriales-Villa R, Navarro M, et al. Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker. Orphanet J Rare Dis. diciembre de 2019;14(1):170.
dc.identifier.issn 1750-1172
dc.identifier.uri https://sms.carm.es/ricsmur/handle/123456789/23911
dc.description.abstract Identification 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 < 70 years 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.
dc.language.iso eng
dc.publisher BMC
dc.rights Atribución/Reconocimiento-NoComercial-CompartirIgual 4.0 Internacional
dc.rights.uri https://creativecommons.org/licenses/by-nc-sa/4.0/deed.es *
dc.subject.mesh Aged
dc.subject.mesh Cardiomyopathy, Hypertrophic/genetics/therapy
dc.subject.mesh Echocardiography
dc.subject.mesh Fabry Disease/diagnosis/genetics
dc.subject.mesh Female
dc.subject.mesh Humans
dc.subject.mesh Male
dc.subject.mesh Middle Aged
dc.subject.mesh Mutation/genetics
dc.subject.mesh Pacemaker, Artificial
dc.title Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker
dc.type info:eu-repo/semantics/article
dc.identifier.pmid 31286959
dc.relation.publisherversion https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1140-3
dc.type.version info:eu-repo/semantics/publishedVersion
dc.identifier.doi 10.1186/s13023-019-1140-3
dc.journal.title Orphanet Journal of Rare Diseases


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Atribución/Reconocimiento-NoComercial-CompartirIgual 4.0 Internacional Excepto si se señala otra cosa, la licencia del ítem se describe como Atribución/Reconocimiento-NoComercial-CompartirIgual 4.0 Internacional

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