{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:50:43Z","timestamp":1753876243354,"version":"3.41.2"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T00:00:00Z","timestamp":1652400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly presents with vascular abnormalities. Owing to the rarity and severity of the condition, consensus guidelines for aortic surgery thresholds vary. In addition, evaluation of coronary arteries in patients with LDS (either routinely or before aortic root surgery) remain undefined. In this case report, we discuss a patient with LDS who found to have an ectatic aortic root and a coronary artery aneurysm and discuss guidelines for evaluation and management in this patient population.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 48-year-old woman was incidentally found to have a 45\u2005mm ectatic aortic root during evaluation for a neck mass. As part of pre-operative evaluation for aortic root replacement, left heart catheterization revealed a left main coronary artery aneurysm. Family history revealed aortic aneurysms, sudden cardiac death, and tall height. Physical examination was notable for pectus excavatum and elongated limbs. Workup for inflammatory aetiologies of aortic root dilation was negative. Genetic testing revealed a heterozygous pathogenic TGBF3 variant, consistent with LDS Type 5. She subsequently underwent two-vessel coronary artery bypass, excision of her left main coronary artery aneurysm, and ascending aortic replacement.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>In this case, we describe a patient with LDS who was noted to have a coronary artery aneurysm, a rare finding in the initial presentation of disease. In addition, we examine guidelines regarding evaluation of management of aortic root disease and coronary aneurysms.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytac204","type":"journal-article","created":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T13:26:17Z","timestamp":1652448377000},"source":"Crossref","is-referenced-by-count":3,"title":["Coronary artery aneurysm in Loeys-Dietz syndrome: a case report"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5987-371X","authenticated-orcid":false,"given":"Zachary T.","family":"Jost","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, University of Alabama at Birmingham , Birmingham, AL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1716-1524","authenticated-orcid":false,"suffix":"III","given":"Charlie J.","family":"Sang","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Pediatrics, University of Alabama at Birmingham , Birmingham, AL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-3829","authenticated-orcid":false,"given":"Pongtawat","family":"Lertwilaiwittaya","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alabama at Birmingham , Birmingham, AL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory D.","family":"Chapman","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Disease, Department of Medicine, University of Alabama at Birmingham , Birmingham, AL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,5,13]]},"reference":[{"volume-title":"GeneReviews(\u00ae)","year":"1993","author":"Loeys","key":"2022063018145014200_ytac204-B1"},{"key":"2022063018145014200_ytac204-B2","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1148\/rg.2018170120","article-title":"Cardiovascular manifestations and complications of Loeys-Dietz syndrome: CT and MR imaging findings","volume":"38","author":"Loughborough","year":"2018","journal-title":"Radiographics"},{"key":"2022063018145014200_ytac204-B3","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1177\/1708538120934582","article-title":"Loeys-Dietz syndrome pathology and aspects of cardiovascular management: a systematic review","volume":"29","author":"Iqbal","year":"2021","journal-title":"Vascular"},{"key":"2022063018145014200_ytac204-B4","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1093\/eurheartj\/ehu281","article-title":"2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The task force for the diagnosis and treatment of aortic diseases of the European society of cardiology (ESC)","volume":"35","author":"Erbel","year":"2014","journal-title":"Eur Heart J"},{"key":"2022063018145014200_ytac204-B5","first-page":"E196","article-title":"Spontaneous coronary artery dissection in Loeys-Dietz syndrome: role of optical coherence tomography in diagnosis and management","volume":"27","author":"Agrawal","year":"2015","journal-title":"J Invasive Cardiol"},{"key":"2022063018145014200_ytac204-B6","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1002\/ajmg.a.35277","article-title":"Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome","volume":"158a","author":"Fattori","year":"2012","journal-title":"Am J Med Genet A"},{"key":"2022063018145014200_ytac204-B7","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1016\/j.ejvs.2015.08.003","article-title":"Clinical exome sequencing as a novel tool for diagnosing Loeys-Dietz syndrome type 3","volume":"50","author":"Blinc","year":"2015","journal-title":"Eur J Vasc Endovasc Surg"},{"key":"2022063018145014200_ytac204-B8","doi-asserted-by":"crossref","first-page":"e001933","DOI":"10.1161\/CIRCGENETICS.117.001933","article-title":"Prospective Cardiovascular genetics evaluation in spontaneous coronary artery dissection","volume":"11","author":"Kaadan","year":"2018","journal-title":"Circ Genom Precis Med"},{"key":"2022063018145014200_ytac204-B9","first-page":"8014820","article-title":"Loeys-Dietz syndrome complicated by right coronary artery pseudoaneurysm","volume":"2018","author":"Jawaid","year":"2018","journal-title":"Case Rep Cardiol"},{"key":"2022063018145014200_ytac204-B10","doi-asserted-by":"crossref","first-page":"61","DOI":"10.4244\/EIJV12I1A11","article-title":"Embolic myocardial infarction due to coronary artery aneurysm in a patient with Loeys-Dietz syndrome","volume":"12","author":"Cereda","year":"2016","journal-title":"EuroIntervention"},{"key":"2022063018145014200_ytac204-B11","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1093\/icvts\/ivw304","article-title":"A Loeys-Dietz patient with a transatlantic odyssey: repeated aortic root surgery ending with a huge left main coronary aneurysm","volume":"24","author":"Carrel","year":"2017","journal-title":"Interact Cardiovasc Thorac Surg"},{"key":"2022063018145014200_ytac204-B12","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/gim.2014.11","article-title":"Loeys-Dietz syndrome: a primer for diagnosis and management","volume":"16","author":"MacCarrick","year":"2014","journal-title":"Genet Med"},{"key":"2022063018145014200_ytac204-B13","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1213\/ANE.0b013e3181dd869b","article-title":"2010 ACCF\/AHA\/AATS\/ACR\/ASA\/SCA\/SCAI\/SIR\/STS\/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease","volume":"111","author":"Hiratzka","year":"2010","journal-title":"Anesth Analg"},{"key":"2022063018145014200_ytac204-B14","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ejvs.2016.06.005","article-title":"Editor\u2019s Choice - 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