{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T16:29:54Z","timestamp":1793464194249,"version":"4.5.0"},"reference-count":21,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","amjmed.com","clinicalkey.jp","clinicalkey.com.au","clinicalkey.es","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Medicine"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1016\/j.amjmed.2024.04.034","type":"journal-article","created":{"date-parts":[[2024,5,9]],"date-time":"2024-05-09T15:11:17Z","timestamp":1715267477000},"page":"880-887.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Interpretation of Genetic Variants in the Evaluation and Management of Thoracic Aortic Aneurysm and Dissection"],"prefix":"10.1016","volume":"137","author":[{"given":"Zaid","family":"Abood","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Fuad","family":"Jan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviana","family":"Zlochiver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxiao","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Cristina","family":"Perez Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather K.","family":"Sanders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arshad","family":"Jahangir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4784-1275","authenticated-orcid":false,"given":"Abdul Jamil","family":"Tajik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.amjmed.2024.04.034_bib0001","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nrcardio.2016.211","article-title":"Aetiology and management of hereditary aortopathy","volume":"14","author":"Verstraeten","year":"2017","journal-title":"Nat Rev Cardiol"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0002","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ajmg.c.31771","article-title":"The genetics of aortopathies: hereditary thoracic aortic aneurysms and dissections","volume":"184","author":"Chou","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0003","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1097\/CRD.0000000000000146","article-title":"Ascending aortic aneurysm is an inherited disease: a contemporary literature review based on Hill's criteria of specificity, strength of association, and biological coherence","volume":"25","author":"Ahmad","year":"2017","journal-title":"Cardiol Rev"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0004","doi-asserted-by":"crossref","first-page":"S1877","DOI":"10.1016\/S0003-4975(02)04147-4","article-title":"Natural history of thoracic aortic aneurysms: indications for surgery, and surgical versus nonsurgical risks","volume":"74","author":"Elefteriades","year":"2002","journal-title":"Ann Thorac Surg"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0005","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.cjca.2015.10.017","article-title":"A decade of discovery in the genetic understanding of thoracic aortic disease","volume":"32","author":"Andelfinger","year":"2016","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0006","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1055\/s-0039-3400233","article-title":"Genes associated with thoracic aortic aneurysm and dissection: 2019 update and clinical implications","volume":"7","author":"Faggion Vinholo","year":"2019","journal-title":"Aorta (Stamford)"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0007","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","article-title":"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0008","doi-asserted-by":"crossref","first-page":"182","DOI":"10.3390\/biom10020182","article-title":"The genetics of thoracic aortic aneurysms and dissection: a clinical perspective","volume":"10","author":"Ostberg","year":"2020","journal-title":"Biomolecules"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0009","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.jacc.2018.04.089","article-title":"Clinical validity of genes for heritable thoracic aortic aneurysm and dissection","volume":"72","author":"Renard","year":"2018","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0010","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0011","doi-asserted-by":"crossref","first-page":"e27","DOI":"10.1016\/j.jacc.2010.02.015","volume":"55","author":"Hiratzka","year":"2010","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0012","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.118.002476","article-title":"Clinical implications of identifying pathogenic variants in individuals with thoracic aortic dissection","volume":"12","author":"Wolford","year":"2019","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0013","doi-asserted-by":"crossref","first-page":"2611","DOI":"10.1161\/CIRCULATIONAHA.106.630400","article-title":"Thoracic aortic aneurysm and dissection: increasing prevalence and improved outcomes reported in a nationwide population-based study of more than 14,000 cases from 1987 to 2002","volume":"114","author":"Olsson","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0014","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.jjcc.2019.03.014","article-title":"Genetic basis of hereditary thoracic aortic aneurysms and dissections","volume":"74","author":"Takeda","year":"2019","journal-title":"J Cardiol"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0015","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1016\/S0735-1097(03)00922-7","article-title":"Is aortic dilatation an atherosclerosis-related process? Clinical, laboratory, and transesophageal echocardiographic correlates of thoracic aortic dimensions in the population with implications for thoracic aortic aneurysm formation","volume":"42","author":"Agmon","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0016","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11748-017-0874-x","article-title":"Thoracic aortic aneurysm: unlocking the \"silent killer\" secrets","volume":"67","author":"Saeyeldin","year":"2019","journal-title":"Gen Thorac Cardiovasc Surg"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0017","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.hlc.2019.12.010","article-title":"Familial aortopathies: state of the art review","volume":"29","author":"Zentner","year":"2020","journal-title":"Heart Lung Circ"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0018","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.amjmed.2024.04.034_bib0019","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.3390\/ijms19072125","article-title":"TGF-\u03b2 signaling-related genes and thoracic aortic aneurysms and dissections","volume":"19","author":"Takeda","year":"2018","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0020","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ng1511","article-title":"A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2","volume":"37","author":"Loeys","year":"2005","journal-title":"Nat Genet"},{"key":"10.1016\/j.amjmed.2024.04.034_bib0021","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1161\/CIRCRESAHA.113.300675","article-title":"Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-\u03b2 signaling and vascular smooth muscle cell contractility","volume":"113","author":"Gillis","year":"2013","journal-title":"Circ Res"}],"container-title":["The American Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002934324002791?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002934324002791?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T06:46:35Z","timestamp":1724827595000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002934324002791"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":21,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["S0002934324002791"],"URL":"https:\/\/doi.org\/10.1016\/j.amjmed.2024.04.034","relation":{},"ISSN":["0002-9343"],"issn-type":[{"value":"0002-9343","type":"print"}],"subject":[],"published":{"date-parts":[[2024,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical Interpretation of Genetic Variants in the Evaluation and Management of Thoracic Aortic Aneurysm and Dissection","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.amjmed.2024.04.034","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}