{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:03:54Z","timestamp":1756382634431,"version":"3.28.0"},"reference-count":9,"publisher":"Texas Heart Institute Journal","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2]]},"abstract":"Loeys-Dietz syndrome is a genetic disorder that predisposes patients to aortic aneurysms. If left untreated, the natural history of the associated aortopathy often culminates in fatal aortic dissection. We describe the case of a 21-year-old man who was diagnosed with Loeys-Dietz syndrome after 2 family members died of aortic dissection. This case highlights the importance of increased physician awareness of this syndrome, which can play a crucial role in preventing premature sudden cardiac death caused by aortic catastrophe.<\/jats:p>","DOI":"10.14503\/thij-17-6387","type":"journal-article","created":{"date-parts":[[2019,2,15]],"date-time":"2019-02-15T15:30:55Z","timestamp":1550244655000},"page":"41-43","source":"Crossref","is-referenced-by-count":2,"title":["Preventing a Catastrophe: Increasing Awareness of Loeys-Dietz Syndrome"],"prefix":"10.14503","volume":"46","author":[{"given":"Bradley S.","family":"Kane","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamran","family":"Shamsa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5628","reference":[{"issue":"6","key":"i1526-6702-46-1-41-b1","series-title":"Curr Opin Cardiol","first-page":"546","article-title":"The Loeys-Dietz syndrome: an update for the clinician","volume":"25","year":"2010","unstructured":"Van Hemelrijk\n C\n , RenardM, LoeysB. \n The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol2010; 25(6):546\u201351."},{"issue":"8","key":"i1526-6702-46-1-41-b2","series-title":"N Engl J Med","first-page":"788","article-title":"Aneurysm syndromes caused by mutations in the TGF-beta receptor","volume":"355","year":"2006","unstructured":"Loeys\n BL\n , SchwarzeU, HolmT, CallewaertBL, ThomasGH, PannuH, \n et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med2006;355(8):788\u201398."},{"issue":"8","key":"i1526-6702-46-1-41-b3","series-title":"Am J Med","first-page":"670","article-title":"Aortopathies: etiologies, genetics, differential diagnosis, prognosis, and management","volume":"126","year":"2013","unstructured":"Paterick\n TE\n , HumphriesJA, AmmarKA, JanMF, LobergR, BushM, \n et al. Aortopathies: etiologies, genetics, differential diagnosis, prognosis, and management. Am J Med2013;126 (8):670\u20138."},{"issue":"8","key":"i1526-6702-46-1-41-b4","series-title":"Genet Med","first-page":"576","article-title":"Loeys-Dietz syndrome: a primer for diagnosis and management","volume":"16","year":"2014","unstructured":"MacCarrick\n G\n , BlackJH3rd, BowdinS, El-HamamsyI, Frischmeyer-GuerrerioPA, GuerrerioAL, \n et al. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med2014;16(8):576\u201387."},{"issue":"6","key":"i1526-6702-46-1-41-b5","series-title":"Heart Lung Circ","first-page":"536","article-title":"Update on the diagnosis and management of inherited aortopathies, including Marfan syndrome","volume":"26","year":"2017","unstructured":"Zentner\n D\n , WestM, AdesLC; CSANZ Cardiovascular Genetic Diseases Council. \n Update on the diagnosis and management of inherited aortopathies, including Marfan syndrome. Heart Lung Circ2017;26(6):536\u201344."},{"issue":"5","key":"i1526-6702-46-1-41-b6","series-title":"Genet Med","first-page":"405","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","year":"2015","unstructured":"Richards\n S\n , AzizN, BaleS, BickD, DasS, Gastier-FosterJ, \n et al. 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. Genet Med2015;17(5):405\u201324."},{"issue":"13","key":"i1526-6702-46-1-41-b7","series-title":"Circulation","first-page":"e266","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: a report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine","volume":"121","year":"2010","unstructured":"Hiratzka\n LF\n , BakrisGL, BeckmanJA, BersinRM, CarrVF, CaseyDEJr, \n et al. 2010 ACCF\/AHA\/AATS\/ACR\/ASA\/SCA\/SCAI\/SIR\/STS\/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: a report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation2010;121(13):e266\u2013369."},{"issue":"11","key":"i1526-6702-46-1-41-b8","series-title":"Circ J","first-page":"2369","article-title":"Decreased aortic elasticity in children with Marfan syndrome or Loeys-Dietz syndrome","volume":"80","year":"2016","unstructured":"Akazawa\n Y\n , MotokiN, TadaA, YamazakiS, HachiyaA, MatsuzakiS, \n et al. Decreased aortic elasticity in children with Marfan syndrome or Loeys-Dietz syndrome. Circ J2016;80 (11):2369\u201375."},{"issue":"2","key":"i1526-6702-46-1-41-b9","series-title":"J Thorac Cardiovasc Surg","first-page":"406","article-title":"Cardiovascular operations for Loeys-Dietz syndrome: intermediate-term results","volume":"153","year":"2017","unstructured":"Patel\n ND\n , CrawfordT, MagruderJT, AlejoDE, HibinoN, BlackJ, \n et al. Cardiovascular operations for Loeys-Dietz syndrome: intermediate-term results. J Thorac Cardiovasc Surg2017;153(2):406\u201312."}],"container-title":["Texas Heart Institute Journal"],"original-title":[],"link":[{"URL":"https:\/\/thij.kglmeridian.com\/view\/journals\/thij\/46\/1\/article-p41.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/meridian.allenpress.com\/thij\/article-pdf\/46\/1\/41\/1968459\/thij-17-6387.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thij.kglmeridian.com\/downloadpdf\/journals\/thij\/46\/1\/article-p41.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thij.kglmeridian.com\/downloadpdf\/journals\/thij\/46\/1\/article-p41.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T15:35:16Z","timestamp":1730993716000},"score":1,"resource":{"primary":{"URL":"https:\/\/thij.kglmeridian.com\/view\/journals\/thij\/46\/1\/article-p41.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":9,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.14503\/thij-17-6387","relation":{},"ISSN":["0730-2347","1526-6702"],"issn-type":[{"type":"print","value":"0730-2347"},{"type":"electronic","value":"1526-6702"}],"subject":[],"published":{"date-parts":[[2019,2]]}}}