The first cardiac transplant experience in a patient with mucopolysaccharidosis

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorGRINBERG, Henrique
dc.contributor.authorQUAIO, Caio Robledo D'Angioli Costa
dc.contributor.authorAVILA, Monica Samuel
dc.contributor.authorFERREIRA, Silvia Moreira Ayub
dc.contributor.authorVIEIRA, Marcelo Luiz Campos
dc.contributor.authorBENVENUTI, Luiz Alberto
dc.contributor.authorKIM, Chong Ae
dc.contributor.authorBOCCHI, Edimar Alcides
dc.date.accessioned2013-07-30T14:52:19Z
dc.date.available2013-07-30T14:52:19Z
dc.date.issued2012
dc.description.abstractHunter syndrome (MPSII) is a rare X-linked lysosomal storage disorder that can affect multiple systems but primarily affects the heart. We report the case of a previously asymptomatic 23-year-old patient who had an attenuated form of MPSII and presented with refractory heart failure that required a heart transplant. The diagnosis was confirmed by detection of an increase in urinary excretion of glycosaminoglycans, a deficiency in enzymatic activity, and molecular analysis. A myocardial biopsy revealed hypertrophic cardiomyocytes, mild fibrosis, and lysosomal storage in interstitial cells. Molecular analysis identified a novel mutation in the iduronate-2-sulfatase gene. Although the clinical outcome was not favorable, we believe that this approach may be valid in end-stage heart failure.
dc.description.indexMEDLINE
dc.identifier.citationCARDIOVASCULAR PATHOLOGY, v.21, n.4, p.358-360, 2012
dc.identifier.doi10.1016/j.carpath.2011.10.004
dc.identifier.issn1054-8807
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/673
dc.language.isoeng
dc.publisherELSEVIER SCIENCE INC
dc.relation.ispartofCardiovascular Pathology
dc.rightsrestrictedAccess
dc.rights.holderCopyright ELSEVIER SCIENCE INC
dc.subjectHeart failure
dc.subjectHeart transplantation
dc.subjectValve involvement
dc.subjectMucopolysaccharidosis
dc.subjectHurler syndrome
dc.subject.wosCardiac & Cardiovascular Systems
dc.subject.wosPathology
dc.titleThe first cardiac transplant experience in a patient with mucopolysaccharidosis
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.citation.scopus7
hcfmusp.contributor.author-fmusphcHENRIQUE GRINBERG
hcfmusp.contributor.author-fmusphcCAIO ROBLEDO D'ANGIOLI COSTA QUAIO
hcfmusp.contributor.author-fmusphcMONICA SAMUEL AVILA GRINBERG
hcfmusp.contributor.author-fmusphcSILVIA MOREIRA AYUB FERREIRA
hcfmusp.contributor.author-fmusphcMARCELO LUIZ CAMPOS VIEIRA
hcfmusp.contributor.author-fmusphcLUIZ ALBERTO BENVENUTI
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.contributor.author-fmusphcEDIMAR ALCIDES BOCCHI
hcfmusp.description.beginpage358
hcfmusp.description.endpage360
hcfmusp.description.issue4
hcfmusp.description.volume21
hcfmusp.lim.ref2012
hcfmusp.origemWOS
hcfmusp.origem.pubmed22153556
hcfmusp.origem.scopus2-s2.0-84863720849
hcfmusp.origem.wosWOS:000306778600016
hcfmusp.publisher.cityNEW YORK
hcfmusp.publisher.countryUSA
hcfmusp.relation.referenceFesslova V, 2009, CARDIOL YOUNG, V19, P170, DOI 10.1017/S1047951109003576
hcfmusp.relation.referenceMartin R, 2008, PEDIATRICS, V121, pE377, DOI 10.1542/peds.2007-1350
hcfmusp.relation.referenceOkuyama T, 2010, MOL GENET METAB, V99, P18, DOI 10.1016/j.ymgme.2009.08.006
hcfmusp.scopus.lastupdate2024-05-10
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