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Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease

2017-02-03Journal article Restricted access
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dc.contributor.authorAzevedo, Olga
dc.contributor.authorGago, Miguel
dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.contributor.authorGaspar, Paulo
dc.contributor.authorSousa, Nuno
dc.contributor.authorCunha, Damião
dc.date.accessioned2018-03-27T15:12:26Z
dc.date.available2018-03-27T15:12:26Z
dc.date.issued2017-02-03
dc.description.abstractWe report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCardiology. 2017;137(2):67-73. doi: 10.1159/000455117. Epub 2017 Feb 3.pt_PT
dc.identifier.doi10.1159/000455117pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5478
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherKarger Publisherspt_PT
dc.relation.publisherversionhttps://www.karger.com/Article/Abstract/455117pt_PT
dc.subjectClassical Phenotypept_PT
dc.subjectFabry Diseasept_PT
dc.subjectGLA Genept_PT
dc.subjectLeft Ventricular Hypertrophypt_PT
dc.subjectMutationpt_PT
dc.subjectNonsensept_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Diseasept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage73pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage67pt_PT
oaire.citation.titleCardiologypt_PT
oaire.citation.volume137pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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