{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T13:27:05Z","timestamp":1771853225236,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T00:00:00Z","timestamp":1600905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>FBN1<\/jats:italic> gene encodes for the connective tissue protein fibrillin\u20101 which can also regulate the profibrotic cytokine transforming growth factor (TGF)\u2010\u00df1. Mutations in the <jats:italic>FBN1<\/jats:italic> gene cause Marfan syndrome (MFS), a genetic condition with defective connective tissues. <jats:italic>FBN1<\/jats:italic> haplotypes and single nucleotide polymorphisms have also been reported to be associated with systemic sclerosis (SSc), a connective tissue disease characterized by fibrosis of multiple organs. Furthermore, the duplication of the <jats:italic>Fbn1<\/jats:italic> gene causes a SSc\u2010like disease in the TsK1 mouse model. To the best of our knowledge, there are no reports of MFS and SSc co\u2010existing in a patient. Here, we describe a 46\u2010year\u2010old woman who presented with cardiac failure. She had a family history of MFS. Physical examination revealed marfanoid habitus and scleroderma features. Echocardiography demonstrated dilated cardiomyopathy with aortic root dilatation, aortic regurgitation and mitral regurgitation. Cardiac magnetic resonance imaging was consistent with dilated cardiomyopathy, mid\u2010wall fibrosis at basal septal wall and dilated aortic root. Extractable nuclear antigen panel detected anti\u2010Scl 70. She fulfilled Ghent criteria for MFS and satisfied American College of Rheumatology\/ European League Against Rheumatism classification criteria for SSc. Although we do not have the <jats:italic>FBN1<\/jats:italic> sequence in our patient, the co\u2010existence of MFS and SSc in this patient raises the possibility of co\u2010existence of distinct mutations in the <jats:italic>FBN1<\/jats:italic> gene that could affect TGF\u2010\u03b2 signaling differently, resulting in divergent pathologic consequences \u2013 loss of structural integrity in MFS versus increased extracellular matrix deposition in SSc, and different clinical manifestations.<\/jats:p>","DOI":"10.1111\/1756-185x.13965","type":"journal-article","created":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T11:58:31Z","timestamp":1600948711000},"page":"1568-1573","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Co\u2010existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link"],"prefix":"10.1111","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0713-1148","authenticated-orcid":false,"given":"Wee Fang","family":"Yap","sequence":"first","affiliation":[{"name":"Rheumatology Unit Department of Medicine Hospital Melaka Melaka Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hwee Cheng","family":"Chong","sequence":"additional","affiliation":[{"name":"Rheumatology Unit Department of Medicine Hospital Melaka Melaka Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,24]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"220","article-title":"Un cas de d\u00e9formation cong\u00e9nitale des quatre membres, plus prononc\u00e9e aux extremit\u00e9s, caracteris\u00e9e par l\u2019 allongement des os avec un certain degr\u00e9 d\u2019aminicissement (A case of congenital deformation of the four limbs, more pronounced at the extremities, characterized by elongation of the bones with some degree of thinning)","volume":"13","author":"Marfan AB","year":"1896","journal-title":"Bull Mem Soc Med Hop Paris"},{"key":"e_1_2_7_3_1","first-page":"2105","volume-title":"Harrison\u2019s principles of internal medicine","author":"Prockop DJ","year":"1994"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.129.4.1165"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nrdp.2015.2","article-title":"Systemic sclerosis","volume":"1","author":"Allanore Y","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2018.08.005"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0738-081X(94)90295-X"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.4.300"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.140.5.1159"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780390814"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(199810)41:10<1729::AID-ART5>3.0.CO;2-8"},{"key":"e_1_2_7_13_1","first-page":"658","volume-title":"Eular Textbook on Rheumatic Diseases","author":"Giacomelli R","year":"2018"},{"issue":"9142","key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"1722","DOI":"10.1016\/S0140-6736(05)79822-6","article-title":"Aortic complications of Marfan syndrome","volume":"352","author":"Adams JN","year":"1998","journal-title":"Lancet"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2010.05.038"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurjhf\/hfq127"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1996.0237"},{"key":"e_1_2_7_18_1","first-page":"312","volume-title":"Mendelian Inheritance in Man: Catalogs of Genes and Genetic Disorders","author":"McKusik VA","year":"1994"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1581"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199007193230303"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115589"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.124.6.997"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1086\/521409"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.hco.0000162398.21972.cd"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1116"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2011.11.019"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.1250"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.107.157776"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.841981"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)31659-4"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12580445"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.3109\/08916939808996283"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.175.7.4555"}],"container-title":["International Journal of Rheumatic Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1756-185X.13965","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1756-185X.13965","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1756-185X.13965","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T15:31:55Z","timestamp":1693841515000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1756-185X.13965"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,24]]},"references-count":32,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1111\/1756-185X.13965"],"URL":"https:\/\/doi.org\/10.1111\/1756-185x.13965","archive":["Portico"],"relation":{},"ISSN":["1756-1841","1756-185X"],"issn-type":[{"value":"1756-1841","type":"print"},{"value":"1756-185X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,24]]},"assertion":[{"value":"2020-06-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}