{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:59:25Z","timestamp":1790744365696,"version":"4.1.0"},"reference-count":99,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,3,21]],"date-time":"2020-03-21T00:00:00Z","timestamp":1584748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Revista Portuguesa de Cardiologia"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1016\/j.repc.2019.09.008","type":"journal-article","created":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T18:01:22Z","timestamp":1589824882000},"page":"215-226","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":80,"title":["S\u00edndrome de Marfan revisitada \u2013 da gen\u00e9tica \u00e0 cl\u00ednica"],"prefix":"10.1016","volume":"39","author":[{"given":"S\u00f3nia Gomes","family":"Coelho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana G.","family":"Almeida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.repc.2019.09.008_bib0500","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1016\/S0140-6736(05)66995-4","article-title":"Marfan's syndrome","volume":"366","author":"Ho","year":"2005","journal-title":"Lancet."},{"key":"10.1016\/j.repc.2019.09.008_bib0505","doi-asserted-by":"crossref","first-page":"2802","DOI":"10.1161\/CIRCULATIONAHA.107.693523","article-title":"Medical management of Marfan syndrome","volume":"117","author":"Keane","year":"2008","journal-title":"Circulation."},{"key":"10.1016\/j.repc.2019.09.008_bib0510","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.cpcardiol.2007.10.001","article-title":"Marfan syndrome \u2013 diagnosis and management","volume":"33","author":"Ammash","year":"2008","journal-title":"Curr Probl in Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0515","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.gde.2007.04.006","article-title":"Marfan syndrome: from molecular pathogenesis to clinical treatment","volume":"17","author":"Ramirez","year":"2007","journal-title":"Curr Opin Genet Dev."},{"key":"10.1016\/j.repc.2019.09.008_bib0520","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","article-title":"Revised diagnostic criteria for the Marfan syndrome","volume":"62","author":"Paepe","year":"1996","journal-title":"Am J Med Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0525","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J Med Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0530","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1477-5751-11-9","article-title":"TGFBR3 variation is not a common cause of Marfan\u2010like syndrome and Loeys\u2010Dietz\u2010like syndrome","volume":"11","author":"Singh","year":"2012","journal-title":"J Negat Results Biomed."},{"key":"10.1016\/j.repc.2019.09.008_bib0535","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.arr.2009.09.001","article-title":"Recent molecular biological progress in Marfan syndrome and Marfan\u2010associated disorders","volume":"9","author":"Gao","year":"2010","journal-title":"Ageing Res Rev."},{"key":"10.1016\/j.repc.2019.09.008_bib0540","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/S1050-1738(97)00087-X","article-title":"Badly engineered fibrillin lessons from molecular studies of Marfan syndrome","volume":"7","author":"Rantam\u00e4ki","year":"1997","journal-title":"Trends Cardiovasc Med."},{"key":"10.1016\/j.repc.2019.09.008_bib0545","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1136\/hrt.2010.212100","article-title":"The translational science of Marfan syndrome","volume":"97","author":"Jondeau","year":"2011","journal-title":"Heart."},{"key":"10.1016\/j.repc.2019.09.008_bib0550","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S1357-2725(98)00109-5","article-title":"The fibrillins","volume":"31","author":"Ramirez","year":"1999","journal-title":"Int J Biochem Cell Biol."},{"key":"10.1016\/j.repc.2019.09.008_bib0555","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s11886-010-0083-z","article-title":"The pathogenesis of aortopathy in Marfan syndrome and related diseases","volume":"12","author":"Jones","year":"2010","journal-title":"Curr Cardiol Rep."},{"key":"10.1016\/j.repc.2019.09.008_bib0560","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.2005.039669","article-title":"The molecular genetics of Marfan syndrome and related disorders","volume":"43","author":"Robinson","year":"2006","journal-title":"J Med Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0565","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1016\/j.ejcts.2007.02.027","article-title":"Genetic testing in patients with aortic aneurysms\/dissections: a novel genotype\/phenotype correlation?","volume":"31","author":"Waldm\u00fcller","year":"2007","journal-title":"Eur J Cardiothorac Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0570","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1086\/341581","article-title":"Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes","volume":"71","author":"Schrijver","year":"2002","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0575","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/humu.10113","article-title":"Mutations of FBN1 and genotype\u2010phenotype correlations in Marfan syndrome and related fibrillinopathies","volume":"20","author":"Robinson","year":"2002","journal-title":"Hum Mutat."},{"key":"10.1016\/j.repc.2019.09.008_bib0580","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/sj.ejhg.5200876","article-title":"Marfan syndrome in the third Millennium","volume":"10","author":"Collod-B\u00e9roud","year":"2002","journal-title":"Eur J Hum Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0585","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/ng1194-264","article-title":"A second locus for Marfan syndrome maps to chromosome 3p24.2\u2010p25","volume":"8","author":"Collod","year":"1994","journal-title":"Nat Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0590","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/ng1392","article-title":"Heterozygous TGFBR2 mutations in Marfan Syndrome","volume":"36","author":"Mizuguchi","year":"2004","journal-title":"Nat Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0595","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1002\/humu.20354","article-title":"TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys\u2010Dietz syndrome","volume":"27","author":"Singh","year":"2006","journal-title":"Hum Mutat."},{"key":"10.1016\/j.repc.2019.09.008_bib0600","first-page":"55","article-title":"Genotype\u2010phenotype analysis of F\u2010helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study","volume":"18","author":"Zhang","year":"2012","journal-title":"Mol Vis."},{"key":"10.1016\/j.repc.2019.09.008_bib0605","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1002\/humu.20353","article-title":"Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome\u2010related disorders","volume":"27","author":"M\u00e1ty\u00e1s","year":"2006","journal-title":"Hum Mutat."},{"key":"10.1016\/j.repc.2019.09.008_bib0610","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.jflm.2007.07.010","article-title":"Marfan syndrome and sudden death within a family \u2013 Aetiologic, molecular and diagnostic issues at autopsy","volume":"15","author":"Hirani","year":"2008","journal-title":"J Forensic Leg Med."},{"key":"10.1016\/j.repc.2019.09.008_bib0615","unstructured":"The UMD central website \u2010 Universal Mutation Database. Dispon\u00edvel em: http:\/\/www.umd.be.[acesso 2\/7\/2019]."},{"key":"10.1016\/j.repc.2019.09.008_bib0620","unstructured":"GnomAD \u2010 Genome Aggregation Database. Dispon\u00edvel em: https:\/\/gnomad.broadinstitute.org.[acesso 2\/7\/2019]."},{"key":"10.1016\/j.repc.2019.09.008_bib0625","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1172\/JCI117737","article-title":"Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype","volume":"95","author":"Eldadah","year":"1995","journal-title":"J Clin Invest."},{"key":"10.1016\/j.repc.2019.09.008_bib0630","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1172\/JCI117298","article-title":"Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms","volume":"94","author":"Aoyama","year":"1994","journal-title":"J Clin Invest."},{"key":"10.1016\/j.repc.2019.09.008_bib0635","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/jcp.21189","article-title":"Fibrillin\u2010rich microfibrils: structural determinants of morphogenetic and homeostatic events","volume":"213","author":"Ramirez","year":"2007","journal-title":"J Cell Physiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0640","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S0959-437X(96)80007-4","article-title":"Fibrillin mutations in Marfan syndrome and related phenotypes","volume":"6","author":"Ramirez","year":"1996","journal-title":"Curr Opin Genet Dev."},{"key":"10.1016\/j.repc.2019.09.008_bib0645","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1152\/physiolgenomics.00092.2004","article-title":"Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology","volume":"19","author":"Ramirez","year":"2004","journal-title":"Physiol Genomics."},{"key":"10.1016\/j.repc.2019.09.008_bib0650","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1161\/01.RES.88.1.37","article-title":"Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome","volume":"88","author":"Bunton","year":"2001","journal-title":"Circ Res."},{"key":"10.1016\/j.repc.2019.09.008_bib0655","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/ajmg.c.30068","article-title":"Recent progress towards a molecular understanding of Marfan syndrome","volume":"139C","author":"Dietz","year":"2005","journal-title":"Am J Med Genet C Semin Med Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0995","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1161\/CIRCRESAHA.107.157776","article-title":"Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase\u20102 and \u20109 in the thoracic aortic aneurysm in Marfan syndrome","volume":"101","author":"Chung","year":"2007","journal-title":"Circ Res."},{"key":"10.1016\/j.repc.2019.09.008_bib0660","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0962-8924(02)00007-7","article-title":"Extracellular matrix in vascular morphogenesis and disease: structure versus signal","volume":"13","author":"Brooke","year":"2003","journal-title":"Trends Cell Biol."},{"issue":"19 Suppl","key":"10.1016\/j.repc.2019.09.008_bib0670","first-page":"II331","article-title":"Immunohistochemistry of matrix metalloproteinases and their inhibitors in thoracic aortic aneurysms and aortic valves of patients with Marfan's syndrome","volume":"98","author":"Segura","year":"1998","journal-title":"Circulation."},{"key":"10.1016\/j.repc.2019.09.008_bib0675","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.avsg.2006.11.001","article-title":"Role of matrix metalloproteinase inhibitors in preventing abdominal aortic aneurysm","volume":"21","author":"Aziz","year":"2007","journal-title":"Ann Vasc Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0680","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/(SICI)1096-9896(200002)190:3<300::AID-PATH596>3.0.CO;2-I","article-title":"Molecular mechanisms in intimal hyperplasia","volume":"190","author":"Newby","year":"2000","journal-title":"J Pathol."},{"key":"10.1016\/j.repc.2019.09.008_bib0685","doi-asserted-by":"crossref","first-page":"3819","DOI":"10.1073\/pnas.96.7.3819","article-title":"Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin\u20101","volume":"96","author":"Pereira","year":"1999","journal-title":"Proc Natl Acad Sci U S A."},{"key":"10.1016\/j.repc.2019.09.008_bib0690","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1161\/CIRCULATIONAHA.105.601674","article-title":"Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG\u2010containing fibrillin\u20101 fragment","volume":"114","author":"Guo","year":"2006","journal-title":"Circulation."},{"key":"10.1016\/j.repc.2019.09.008_bib0695","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1136\/hrt.2006.098798","article-title":"Marfan syndrome: an update of genetics, medical and surgical management","volume":"93","author":"von Kodolitsch","year":"2007","journal-title":"Heart."},{"key":"10.1016\/j.repc.2019.09.008_bib0700","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1016\/S0140-6736(05)67789-6","article-title":"Marfan's syndrome","volume":"366","author":"Judge","year":"2005","journal-title":"Lancet."},{"key":"10.1016\/j.repc.2019.09.008_bib0705","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1083\/jcb.200608167","article-title":"Fibrillin\u20101 regulates the bioavailability of TGF\u03b21","volume":"176","author":"Chaudhry","year":"2007","journal-title":"J Cell Biol."},{"key":"10.1016\/j.repc.2019.09.008_bib0710","doi-asserted-by":"crossref","first-page":"2750","DOI":"10.1074\/jbc.M209256200","article-title":"Latent transforming growth factor (\u2010binding protein 1 interacts with fibrillin and is a microfibril\u2010associated protein","volume":"278","author":"Isogai","year":"2003","journal-title":"J Biol Chem."},{"key":"10.1016\/j.repc.2019.09.008_bib0715","first-page":"662","volume":"81","author":"Dietz","year":"2007","journal-title":"Marfan syndrome: from molecules to medicines. Am J Hum Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0720","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.atherosclerosis.2009.08.003","article-title":"A role for plasma transforming growth factor\u2010\u03b2 and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?","volume":"209","author":"Ahimastos","year":"2010","journal-title":"Atherosclerosis."},{"key":"10.1016\/j.repc.2019.09.008_bib0725","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1172\/JCI200422715","article-title":"TGF\u2010beta\u2010dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome","volume":"114","author":"Ng","year":"2004","journal-title":"J Clin Invest."},{"key":"10.1016\/j.repc.2019.09.008_bib0730","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1007\/s12265-011-9314-y","article-title":"Mitral valve disease in Marfan syndrome and related disorders","volume":"4","author":"Judge","year":"2011","journal-title":"J Cardiovasc Transl Res."},{"key":"10.1016\/j.repc.2019.09.008_bib0735","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1590\/S1516-31802010000600009","article-title":"Marfan's syndrome: an overview","volume":"128","author":"Yuan","year":"2010","journal-title":"Sao Paulo Med J."},{"key":"10.1016\/j.repc.2019.09.008_bib0740","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.jtcvs.2006.07.001","article-title":"Different patterns of aortic wall elasticity in patients with Marfan syndrome: A noninvasive follow\u2010up study","volume":"132","author":"Baumgartner","year":"2006","journal-title":"J Thorac Cardiovasc Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0745","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.artres.2009.01.003","article-title":"Marfan and Marfan\u2010like syndromes","volume":"3","author":"De Backer","year":"2009","journal-title":"Artery Res."},{"key":"10.1016\/j.repc.2019.09.008_bib0750","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1093\/eurjhf\/hfq127","article-title":"Evidence for Marfan cardiomyopathy","volume":"12","author":"Alpendurada","year":"2010","journal-title":"Eur J Heart Fail."},{"key":"10.1016\/j.repc.2019.09.008_bib0755","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ijcard.2004.08.014","article-title":"What is new in the Marfan syndrome?","volume":"97","author":"Nollen","year":"2004","journal-title":"Int J Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0760","first-page":"901","article-title":"Correlation of visco\u2010elastic properties with microscopic structure of large arteries: IV","volume":"21","author":"Apter","year":"1967","journal-title":"Thermal responses of collagen, elastin, smooth muscle, and intact arteries. Circ Res."},{"key":"10.1016\/j.repc.2019.09.008_bib0765","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/S0002-9149(99)00430-0","article-title":"Clinical outcome in the Marfan syndrome with ascending aortic dilatation followed annually by echocardiography","volume":"84","author":"Kornbluth","year":"1999","journal-title":"Am J Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0770","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.ijcard.2005.01.040","article-title":"Determinants of rapid progression of aortic root dilatation and complications in Marfan syndrome","volume":"106","author":"Lazarevic","year":"2006","journal-title":"Int J Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0775","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1016\/0735-1097(93)90559-J","article-title":"Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome","volume":"22","author":"Roman","year":"1993","journal-title":"J Am Coll Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0780","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1093\/eurheartj\/ehq434","article-title":"Dissection in Marfan syndrome: the importance of the descending aorta","volume":"32","author":"Mimoun","year":"2011","journal-title":"Eur Heart J."},{"key":"10.1016\/j.repc.2019.09.008_bib0785","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1136\/hrt.2005.081638","article-title":"Beyond the root: dilatation of the distal aorta in Marfan's syndrome","volume":"92","author":"Engelfriet","year":"2006","journal-title":"Heart."},{"key":"10.1016\/j.repc.2019.09.008_bib0790","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1146\/annurev.med.51.1.481","volume":"51","author":"Pyeritz","year":"2000","journal-title":"The Marfan syndrome. Annu Rev Med."},{"key":"10.1016\/j.repc.2019.09.008_bib0795","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1136\/adc.84.2.129","article-title":"Natural history of cardiovascular manifestations in Marfan syndrome","volume":"84","author":"van Karnebeek","year":"2001","journal-title":"Arch Dis Child."},{"key":"10.1016\/j.repc.2019.09.008_bib0800","doi-asserted-by":"crossref","first-page":"e150","DOI":"10.1161\/01.CIR.0000155243.70456.F4","article-title":"Treatment of aortic disease in patients with Marfan syndrome","volume":"111","author":"Milewicz","year":"2005","journal-title":"Circulation."},{"key":"10.1016\/j.repc.2019.09.008_bib0805","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/0735-1097(89)90198-8","article-title":"The heart of the matter: Cardiovascular involvement in Marfan's syndrome","volume":"14","author":"Child","year":"1989","journal-title":"J Am Coll Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0810","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1046\/j.1365-2796.1997.115125000.x","article-title":"Abnormal ambulatory electrocardiographic findings in patients with the Marfan syndrome","volume":"241","author":"Savolainen","year":"1997","journal-title":"J Intern Med."},{"key":"10.1016\/j.repc.2019.09.008_bib0815","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1136\/heart.87.5.470","article-title":"Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion","volume":"87","author":"Nollen","year":"2002","journal-title":"Heart."},{"key":"10.1016\/j.repc.2019.09.008_bib0820","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1038\/sj.ejhg.5201851","article-title":"Marfan syndrome: clinical diagnosis and management","volume":"15","author":"Dean","year":"2007","journal-title":"Eur J Hum Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0825","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.cuor.2006.09.007","article-title":"Marfan syndrome","volume":"20","author":"McBride","year":"2006","journal-title":"Curr Orthop."},{"key":"10.1016\/j.repc.2019.09.008_bib0830","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.hlc.2006.10.022","article-title":"Guidelines for the diagnosis and management of Marfan syndrome. Heart","volume":"16","author":"Ades","year":"2007","journal-title":"Lung Circ."},{"key":"10.1016\/j.repc.2019.09.008_bib0835","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/jmg.37.1.9","article-title":"The molecular genetics of Marfan syndrome and related microfibrillopathies","volume":"37","author":"Robinson","year":"2000","journal-title":"J Med Genet."},{"key":"10.1016\/j.repc.2019.09.008_bib0840","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.ppedcard.2012.05.003","article-title":"Marfan syndrome: Progress report","volume":"34","author":"Franken","year":"2012","journal-title":"Prog Pediatr Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0845","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jmu.2011.03.001","article-title":"Marfan syndrome\u2010an echocardiographer's perspective","volume":"19","author":"Yu","year":"2011","journal-title":"J Med Ultrasound."},{"key":"10.1016\/j.repc.2019.09.008_bib0850","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/0002-9149(89)90430-X","article-title":"Two\u2010dimensional echocardiographic aortic root dimensions in normal children and adults","volume":"64","author":"Roman","year":"1989","journal-title":"Am J Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0855","first-page":"e266","volume":"121","author":"Hiratzka","year":"2010","journal-title":"Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation."},{"key":"10.1016\/j.repc.2019.09.008_bib0860","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1001\/jama.298.13.1539","article-title":"Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial","volume":"298","author":"Ahimastos","year":"2007","journal-title":"JAMA."},{"key":"10.1016\/j.repc.2019.09.008_bib0865","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.ijcard.2006.01.025","article-title":"Is there benefit of \u03b2\u2010blocking agents in the treatment of patients with the Marfan syndrome?","volume":"114","author":"Engelfriet","year":"2007","journal-title":"Int J Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0870","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.jpeds.2006.09.003","article-title":"Beta\u2010blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome","volume":"150","author":"Tierney","year":"2007","journal-title":"J Pediatr."},{"key":"10.1016\/j.repc.2019.09.008_bib0875","first-page":"254","article-title":"Novel pharmacological strategies to prevent aortic complications in Marfan syndrome","volume":"8","author":"Matt","year":"2011","journal-title":"J Geriatr Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0880","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1126\/science.1124287","article-title":"Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome","volume":"312","author":"Habashi","year":"2006","journal-title":"Science."},{"key":"10.1016\/j.repc.2019.09.008_bib0885","doi-asserted-by":"crossref","first-page":"2787","DOI":"10.1056\/NEJMoa0706585","article-title":"Angiotensin II blockade and aortic\u2010root dilation in Marfan's syndrome","volume":"358","author":"Brooke","year":"2008","journal-title":"N Engl J Med."},{"key":"10.1016\/j.repc.2019.09.008_bib0890","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.recesp.2011.02.009","article-title":"Study of the efficacy and safety of losartan versus atenolol for aortic dilation in patients with Marfan syndrome","volume":"64","author":"Forteza","year":"2011","journal-title":"Rev Esp Cardiol (Engl Ed)."},{"key":"10.1016\/j.repc.2019.09.008_bib0895","first-page":"A15068","article-title":"Atenolol versus losartan in Marfan syndrome: a meta\u2010analysis of randomized controlled trials","volume":"134","author":"Sharma","year":"2018","journal-title":"Circulation."},{"key":"10.1016\/j.repc.2019.09.008_bib0900","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.mayocp.2012.11.005","article-title":"Losartan added to \u03b2\u2010blockade therapy for aortic root dilation in Marfan syndrome: a randomized open\u2010label pilot study","volume":"88","author":"Chiu","year":"2013","journal-title":"Mayo Clin Proc."},{"key":"10.1016\/j.repc.2019.09.008_bib0905","doi-asserted-by":"crossref","first-page":"654","DOI":"10.21037\/acs.2017.11.09","article-title":"Medical management of aortic disease in Marfan syndrome","volume":"6","author":"Mahmood","year":"2017","journal-title":"Ann Cardiothorac Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0910","doi-asserted-by":"crossref","first-page":"e73","DOI":"10.1161\/CIRCRESAHA.108.174367","article-title":"Long\u2010term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in marfan syndrome through the inhibition of matrix metalloproteinase\u20102 and \u20109","volume":"102","author":"Chung","year":"2008","journal-title":"Circ Res."},{"key":"10.1016\/j.repc.2019.09.008_bib0915","doi-asserted-by":"crossref","first-page":"e303","DOI":"10.1161\/CIR.0000000000000243","volume":"132","author":"Braverman","year":"2015","journal-title":"Circulation."},{"key":"10.1016\/j.repc.2019.09.008_bib0920","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1016\/j.athoracsur.2011.12.068","article-title":"Frequency of reoperations in patients with Marfan syndrome","volume":"93","author":"Geisbuesch","year":"2012","journal-title":"Ann Thorac Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0925","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1157\/13125000","article-title":"Surgical treatment of ascending aortic complications in Marfan syndrome: early and long\u2010term outcomes","volume":"61","author":"Favaloro","year":"2008","journal-title":"Rev Esp Cardiol (Engl Ed)."},{"key":"10.1016\/j.repc.2019.09.008_bib0930","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1016\/j.athoracsur.2009.01.073","article-title":"Aortic root replacement in 372 Marfan patients: evolution of operative repair over 30 years","volume":"87","author":"Cameron","year":"2009","journal-title":"Ann Thorac Surg.;"},{"key":"10.1016\/j.repc.2019.09.008_bib0935","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/0735-1097(89)90197-6","article-title":"Marfan's syndrome: natural history and long\u2010term follow\u2010up of cardiovascular involvement","volume":"14","author":"Marsalese","year":"1989","journal-title":"J Am Coll Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0940","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1136\/thx.23.4.338","article-title":"A technique for complete replacement of the ascending aorta","volume":"23","author":"Bentall","year":"1968","journal-title":"Thorax."},{"key":"10.1016\/j.repc.2019.09.008_bib0945","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/S0003-4975(01)03336-7","article-title":"Aortic root replacement in 271 Marfan patients: a 24\u2010year experience","volume":"73","author":"Gott","year":"2002","journal-title":"Ann Thorac Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0950","first-page":"1052","article-title":"Comparison of aortic root replacement in patients with Marfan syndrome","volume":"40","author":"Bernhardt","year":"2011","journal-title":"Eur J Cardiothorac Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0955","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.athoracsur.2012.08.043","article-title":"Midterm results of David reimplantation in patients with connective tissue disorder","volume":"95","author":"Svensson","year":"2013","journal-title":"Ann Thorac Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0960","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.jtcvs.2003.07.049","article-title":"Aortic root surgery in Marfan syndrome: Comparison of aortic valve\u2010sparing reimplantation versus composite grafting","volume":"127","author":"Karck","year":"2004","journal-title":"J Thorac Cardiovasc Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0965","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/S0022-5223(19)34942-6","article-title":"An aortic valve\u2010sparing operation for patients with aortic incompetence and aneurysm of the ascending aorta","volume":"103","author":"David","year":"1992","journal-title":"J Thorac Cardiovasc Surg."},{"key":"10.1016\/j.repc.2019.09.008_bib0970","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1093\/eurheartj\/ehu281","volume":"35","author":"Erbel","year":"2014","journal-title":"Eur Heart J."},{"key":"10.1016\/j.repc.2019.09.008_bib0975","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1093\/eurheartj\/ehs074","volume":"33","author":"Grabenwoger","year":"2012","journal-title":"Eur Heart J."},{"key":"10.1016\/j.repc.2019.09.008_bib0980","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1056\/NEJM197204132861502","article-title":"Life expectancy and causes of death in the Marfan syndrome","volume":"286","author":"Murdoch","year":"1972","journal-title":"N Engl J Med."},{"key":"10.1016\/j.repc.2019.09.008_bib0985","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0002-9149(00)80066-1","article-title":"Life expectancy in the Marfan syndrome","volume":"75","author":"Silverman","year":"1995","journal-title":"Am J Cardiol."},{"key":"10.1016\/j.repc.2019.09.008_bib0990","first-page":"728","article-title":"Marfan syndrome","volume":"91","author":"Finkbohner","year":"1995","journal-title":"Long\u2010term survival and complications after aortic aneurysm repair. Circulation."}],"container-title":["Revista Portuguesa de Cardiologia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0870255120301359?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0870255120301359?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:08:15Z","timestamp":1760108895000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0870255120301359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":99,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["S0870255120301359"],"URL":"https:\/\/doi.org\/10.1016\/j.repc.2019.09.008","relation":{},"ISSN":["0870-2551"],"issn-type":[{"value":"0870-2551","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"S\u00edndrome de Marfan revisitada \u2013 da gen\u00e9tica \u00e0 cl\u00ednica","name":"articletitle","label":"Article Title"},{"value":"Revista Portuguesa de Cardiologia","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.repc.2019.09.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Sociedade Portuguesa de Cardiologia. Published by Elsevier Espa\u00f1a, S.L.U.","name":"copyright","label":"Copyright"}]}}