Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases

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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.authorHONJO, Rachel Sayuri
dc.contributor.authorMONTELEONE, Vanessa Figueiredo
dc.contributor.authorAIELLO, Vera Demarchi
dc.contributor.authorWAGENFUHR, Jaqueline
dc.contributor.authorISSA, Victor Sarli
dc.contributor.authorPOMERANTZEFF, Pablo Maria Alberto
dc.contributor.authorFURUSAWA, Erika Arai
dc.contributor.authorZANARDO, Evelin Aline
dc.contributor.authorKULIKOWSKI, Leslie Domenici
dc.contributor.authorBERTOLA, Debora Romeo
dc.contributor.authorKIM, Chong Ae
dc.date.accessioned2022-02-24T17:18:06Z
dc.date.available2022-02-24T17:18:06Z
dc.date.issued2022
dc.description.abstractWilliams-Beuren syndrome (WBS) is a rare, microdeletion syndrome characterized by facial dysmorphisms, intellectual disability, a friendly personality, cardiovascular and other abnormalities. Cardiovascular defects (CVD) are among the most prevalent characteristics in WBS, being supravalvular aortic stenosis (SVAS) the most frequent, followed by peripheral pulmonary stenosis (PPS). A comprehensive retrospective review of medical records of 127 patients with molecular diagnosis of WBS, in a period of 20 years, was done to evaluate the incidence, the natural history of cardiovascular disease, and the need for surgical intervention, including heart transplantation (HT). A total of 94/127 patients presented with CVD. Of these 94 patients, 50% presented with SVAS and 22.3% needed heart surgery and/or cardiac catheterization including one that required HT due to severe SVAS-related heart failure at 19 years of age. The patient died in the postoperative period due to infectious complications. Cardiovascular problems are the major cause of sudden death in patients with WBS, who have a significantly higher mortality risk associated with surgical interventions. There is a higher risk for anesthesia-related adverse events and for major adverse cardiac events following surgery. End-stage heart failure due to myocardial ischemia has been described in WBS patients and it is important to consider that HT can become their only viable option. To our knowledge, the case mentioned here is the first HT reported in an adolescent with WBS. HT can be a viable therapeutic option in WBS patients with adequate evaluation, planning, and a multidisciplinary team to provide the required perioperative care and follow-up.eng
dc.description.indexMEDLINEeng
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e TecnologicoConselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPQ) [CNPq 304852/2016-3]
dc.identifier.citationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.188, n.2, p.676-682, 2022
dc.identifier.doi10.1002/ajmg.a.62542
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/44509
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright WILEYeng
dc.subjectcardiovasculareng
dc.subjectmicrodeletionseng
dc.subjectstenoseseng
dc.subjecttransplanteng
dc.subjectWilliams-Beureneng
dc.subject.othersupravalvular aortic-stenosiseng
dc.subject.othercell-proliferationeng
dc.subject.otherheart-failureeng
dc.subject.otherfollow-upeng
dc.subject.otherelastineng
dc.subject.othermanifestationseng
dc.subject.otherdeterminanteng
dc.subject.othermanagementeng
dc.subject.othervariantseng
dc.subject.otherspectrumeng
dc.subject.wosGenetics & Heredityeng
dc.titleCardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 caseseng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryBélgica
hcfmusp.affiliation.countryisobe
hcfmusp.author.externalISSA, Victor Sarli:Antwerp Univ Hosp, Antwerp, Belgium
hcfmusp.citation.scopus4
hcfmusp.contributor.author-fmusphcRACHEL SAYURI HONJO KAWAHIRA
hcfmusp.contributor.author-fmusphcVANESSA FIGUEIREDO MONTELEONE
hcfmusp.contributor.author-fmusphcVERA DEMARCHI AIELLO
hcfmusp.contributor.author-fmusphcJAQUELINE WAGENFUHR
hcfmusp.contributor.author-fmusphcPABLO MARIA ALBERTO POMERANTZEFF
hcfmusp.contributor.author-fmusphcERIKA ARAI FURUSAWA
hcfmusp.contributor.author-fmusphcEVELIN ALINE ZANARDO
hcfmusp.contributor.author-fmusphcLESLIE DOMENICI KULIKOWSKI
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.description.beginpage676
hcfmusp.description.endpage682
hcfmusp.description.issue2
hcfmusp.description.volume188
hcfmusp.origemWOS
hcfmusp.origem.pubmed34713566
hcfmusp.origem.scopus2-s2.0-85118229852
hcfmusp.origem.wosWOS:000712254700001
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
hcfmusp.relation.referenceAntonell A, 2010, J MED GENET, V47, P312, DOI 10.1136/jmg.2009.071712eng
hcfmusp.relation.referenceHernandez NB, 2020, PEDIATR TRANSPLANT, V24, DOI 10.1111/petr.13688eng
hcfmusp.relation.referenceBEUREN AJ, 1962, CIRCULATION, V26, P1235, DOI 10.1161/01.CIR.26.6.1235eng
hcfmusp.relation.referenceBroadbent H, 2014, J NEURODEV DISORD, V6, DOI 10.1186/1866-1955-6-18eng
hcfmusp.relation.referenceBrown ML, 2018, PEDIATR CARDIOL, V39, P1123, DOI 10.1007/s00246-018-1864-1eng
hcfmusp.relation.referenceChailangkarn T, 2018, MOL CELL PROBE, V40, P45, DOI 10.1016/j.mcp.2017.12.005eng
hcfmusp.relation.referenceChailangkarn T, 2016, NATURE, V536, P338, DOI 10.1038/nature19067eng
hcfmusp.relation.referenceColan SD, 2015, CARDIOL YOUNG, V25, P154, DOI 10.1017/S1047951115000955eng
hcfmusp.relation.referenceCollins RT, 2017, CONGENIT HEART DIS, V12, P133, DOI 10.1111/chd.12447eng
hcfmusp.relation.referenceCollins RT, 2018, CURR OPIN PEDIATR, V30, P609, DOI 10.1097/MOP.0000000000000664eng
hcfmusp.relation.referenceCollins RT, 2010, AM J CARDIOL, V105, P874, DOI 10.1016/j.amjcard.2009.10.069eng
hcfmusp.relation.referenceFigueroa JD, 2008, TEX HEART I J, V35, P279eng
hcfmusp.relation.referenceDel Pasqua A, 2009, CARDIOL YOUNG, V19, P563, DOI 10.1017/S1047951109990837eng
hcfmusp.relation.referenceDelio M, 2013, AM J MED GENET A, V161A, P527, DOI 10.1002/ajmg.a.35784eng
hcfmusp.relation.referenceEronen M, 2002, J MED GENET, V39, P554, DOI 10.1136/jmg.39.8.554eng
hcfmusp.relation.referenceFAZIO MJ, 1988, J INVEST DERMATOL, V91, P458, DOI 10.1111/1523-1747.ep12476591eng
hcfmusp.relation.referenceFerrero GB, 2007, EUR J MED GENET, V50, P327, DOI 10.1016/j.ejmg.2007.05.005eng
hcfmusp.relation.referenceGonzalez-Lopez MT, 2016, PEDIATR TRANSPLANT, V20, P472, DOI 10.1111/petr.12694eng
hcfmusp.relation.referenceGray JC, 2013, J CARDIOVASC COMPUT, V7, P400, DOI 10.1016/j.jcct.2013.11.007eng
hcfmusp.relation.referenceHALLIDIESMITH KA, 1988, ARCH DIS CHILD, V63, P809, DOI 10.1136/adc.63.7.809eng
hcfmusp.relation.referenceHills JA, 2017, AM J MED GENET A, V173, P1194, DOI 10.1002/ajmg.a.38138eng
hcfmusp.relation.referenceHoeft F, 2014, PLOS ONE, V9, DOI 10.1371/journal.pone.0104088eng
hcfmusp.relation.referenceHoogenraad SC, 2004, BIOESSAYS, V26, P141, DOI 10.1002/bies.10402eng
hcfmusp.relation.referenceHornik CP, 2015, J THORAC CARDIOV SUR, V149, P1516, DOI 10.1016/j.jtcvs.2015.02.016eng
hcfmusp.relation.referenceINDIK Z, 1987, P NATL ACAD SCI USA, V84, P5680, DOI 10.1073/pnas.84.16.5680eng
hcfmusp.relation.referenceJiao Y, 2017, ARTERIOSCL THROM VAS, V37, P930, DOI 10.1161/ATVBAHA.117.309079eng
hcfmusp.relation.referenceJONES KL, 1975, J PEDIATR-US, V86, P718, DOI 10.1016/S0022-3476(75)80356-8eng
hcfmusp.relation.referenceKim YM, 1999, CARDIOL YOUNG, V9, P37, DOI 10.1017/S1047951100007356eng
hcfmusp.relation.referenceLam PPL, 2005, DIABETES, V54, P2744, DOI 10.2337/diabetes.54.9.2744eng
hcfmusp.relation.referenceLi DY, 1998, NATURE, V393, P276, DOI 10.1038/30522eng
hcfmusp.relation.referenceLi W, 2013, ARTERIOSCL THROM VAS, V33, P1028, DOI 10.1161/ATVBAHA.112.300407eng
hcfmusp.relation.referenceMerla G, 2010, HUM GENET, V128, P3, DOI 10.1007/s00439-010-0827-2eng
hcfmusp.relation.referenceMORRIS CA, 1988, J PEDIATR-US, V113, P318, DOI 10.1016/S0022-3476(88)80272-5eng
hcfmusp.relation.referenceMorris CA, 2020, PEDIATRICS, V145, DOI 10.1542/peds.2019-3761eng
hcfmusp.relation.referenceOsborne LR, 2001, NAT GENET, V29, P321, DOI 10.1038/ng753eng
hcfmusp.relation.referencePankau R, 2001, AM J MED GENET, V98, P324, DOI 10.1002/1096-8628(20010201)98:4<324::AID-AJMG1103>3.0.CO;2-5eng
hcfmusp.relation.referenceParlak M, 2014, J PEDIATR ENDOCR MET, V27, P153, DOI 10.1515/jpem-2013-0167eng
hcfmusp.relation.referencePeoples R, 1996, AM J HUM GENET, V58, P1370eng
hcfmusp.relation.referencePham PP, 2009, PEDIATR CARDIOL, V30, P9, DOI 10.1007/s00246-008-9323-zeng
hcfmusp.relation.referencePober Barbara R, 2010, N Engl J Med, V362, P239, DOI 10.1056/NEJMra0903074eng
hcfmusp.relation.referenceRafati M, 2012, CLIN DYSMORPHOL, V21, P118, DOI 10.1097/MCD.0b013e3283520539eng
hcfmusp.relation.referenceScheiber D, 2006, WIEN KLIN WOCHENSCHR, V118, P538, DOI 10.1007/s00508-006-0658-2eng
hcfmusp.relation.referenceStromme P, 2002, J CHILD NEUROL, V17, P269, DOI 10.1177/088307380201700406eng
hcfmusp.relation.referenceTomida J, 2008, J BIOL CHEM, V283, P9071, DOI 10.1074/jbc.M709835200eng
hcfmusp.relation.referenceUrban Z, 2002, AM J HUM GENET, V71, P30, DOI 10.1086/341035eng
hcfmusp.relation.referencevan Hagen JM, 2007, NEUROBIOL DIS, V26, P112, DOI 10.1016/j.nbd.2006.12.009eng
hcfmusp.relation.referenceWessel A, 2004, AM J MED GENET A, V127A, P234, DOI 10.1002/ajmg.a.30012eng
hcfmusp.relation.referenceWESSEL A, 1994, AM J MED GENET, V52, P297, DOI 10.1002/ajmg.1320520309eng
hcfmusp.relation.referenceWILLIAMS JC, 1961, CIRCULATION, V24, P1311, DOI 10.1161/01.CIR.24.6.1311eng
hcfmusp.relation.referenceYuan SM, 2017, TURKISH J PEDIATR, V59, P225, DOI 10.24953/turkjped.2017.03.001eng
hcfmusp.relation.referenceZucker EJ, 2018, CARDIOVASC DIAGN THE, V8, pS71, DOI 10.21037/cdt.2017.09.14eng
hcfmusp.scopus.lastupdate2024-06-09
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