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Detailed postnatal echocardiographic evaluation and cross\u2010sectional imaging confirmed congenital pseudoaneurysm of the mitral\u2010aortic intervalvular fibrosa. Emergent testing by next\u2010generation sequencing identified a <jats:italic>FBN1<\/jats:italic> pathological variant, key to establishing goals of care. To our knowledge, this is the first reported case of a congenital pseudoaneurysm of the mitral\u2010aortic intervalvular fibrosa in MS.<\/jats:p>","DOI":"10.1002\/ajmg.a.62865","type":"journal-article","created":{"date-parts":[[2022,6,9]],"date-time":"2022-06-09T17:10:26Z","timestamp":1654794626000},"page":"2443-2447","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A unique cardiovascular presentation of Marfan syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6723-3480","authenticated-orcid":false,"given":"Andrea","family":"Otero Luna","sequence":"first","affiliation":[{"name":"Division of Pediatric Critical Care, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaylee B.","family":"Park","sequence":"additional","affiliation":[{"name":"University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenna","family":"Schauer","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Castera","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Quintana Grijalba","sequence":"additional","affiliation":[{"name":"Division of Pediatric Critical Care, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sathish Mallenahalli","family":"Chikkabyrappa","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuen Lie","family":"Tjoeng","sequence":"additional","affiliation":[{"name":"Division of Pediatric Critical Care, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin K.","family":"Romberg","sequence":"additional","affiliation":[{"name":"Division of Radiology, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron","family":"Olson","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian A.","family":"Glass","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana","family":"Young","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics Seattle Children's Hospital and University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurjhf\/hfq127"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2011-300169"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10554-018-1459-1"},{"key":"e_1_2_10_6_1","first-page":"1993","volume-title":"GeneReviews\u00ae [internet]","author":"Dietz H.","year":"2001"},{"issue":"5","key":"e_1_2_10_7_1","first-page":"247","article-title":"Antoine Marfan and his syndrome: One hundred years later","volume":"47","author":"Gott V. 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