{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:48:20Z","timestamp":1753890500886,"version":"3.41.2"},"reference-count":6,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T00:00:00Z","timestamp":1686528000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"Background<\/jats:title>Marfan syndrome is a potentially fatal inherited autosomal dominant condition impacting the cardiovascular and the skeletal system with an estimated 25% cases caused by sporadic genetic variations. Given the genetic inheritance pattern, an autopsy of probands with Marfan syndrome\u2013associated mortality is critical to establish the phenotypic expression and clinical implications of the particular genetic variant, especially for first-degree relatives. We present the findings of a Marfan syndrome proband decedent presenting with sudden onset abdominal pain and unexplained retroperitoneal abdominal hemorrhage.<\/jats:p><\/jats:sec>Methods<\/jats:title>An autopsy was performed to inform the blood relatives of the phenotypic expression and penetrance of the potentially heritable condition. A clinical laboratory improvement amendment (CLIA)-certified clinical grade genetic sequencing was performed to identify pathogenic variants in genes associated with aortopathy.<\/jats:p><\/jats:sec>Results<\/jats:title>The autopsy showed intra-abdominal and retroperitoneal hemorrhage due to infarction of the right kidney caused by dissection of the right renal artery. Genetic testing identified a heterozygous pathogenic FBN1<\/jats:italic> gene variant. The specific variant is FBN1<\/jats:italic> NM_000138.4 c.2953G\u2009&gt;\u2009A p.(Gly985Arg).<\/jats:p><\/jats:sec>Conclusions<\/jats:title>We report a case of a previously undiagnosed Marfan syndrome death due to a de novo FBN1<\/jats:italic> variant, c.2953G\u2009&gt;\u2009A.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fcvm.2023.1170460","type":"journal-article","created":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T04:35:23Z","timestamp":1686544523000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["De novo heterozygous pathogenic FBN1 variant in an autopsy case of multiple aneurysms and right renal artery dissection: a case report"],"prefix":"10.3389","volume":"10","author":[{"given":"Taylor","family":"MacGowan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taylor","family":"McClinchey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vibhu","family":"Parcha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Vatta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvio","family":"Litovsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pankaj","family":"Arora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul V.","family":"Benson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,6,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1007\/s00414-008-0288-5","article-title":"Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture","volume":"123","author":"Klintschar","year":"2009","journal-title":"Int J Legal Med"},{"key":"B2","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.jflm.2007.07.010","article-title":"Marfan syndrome and sudden death within a family - aetiologic, molecular and diagnostic issues at autopsy","volume":"15","author":"Hirani","year":"2008","journal-title":"J Forensic Leg Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1590\/S1516-31802010000600009","article-title":"Marfan\u2019s syndrome: an overview","volume":"128","author":"Yuan","year":"2010","journal-title":"Sao Paulo Med J"},{"key":"B4","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1007\/s12471-014-0622-0","article-title":"The revised role of TGF-\u03b2 in aortic aneurysms in Marfan syndrome","volume":"23","author":"Franken","year":"2015","journal-title":"Neth Heart J"},{"key":"B5","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1038\/ejhg.2010.174","article-title":"The clinical spectrum of complete FBN1 allele deletions","volume":"19","author":"Hilhorst-Hofstee","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"B6","first-page":"1993","article-title":"FBN1-Related Marfan syndrome","volume-title":"Genereviews\u00ae","author":"Dietz","year":"2001"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2023.1170460\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T04:35:26Z","timestamp":1686544526000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2023.1170460\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,12]]},"references-count":6,"alternative-id":["10.3389\/fcvm.2023.1170460"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2023.1170460","relation":{},"ISSN":["2297-055X"],"issn-type":[{"type":"electronic","value":"2297-055X"}],"subject":[],"published":{"date-parts":[[2023,6,12]]},"article-number":"1170460"}}