{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T03:18:13Z","timestamp":1792293493636,"version":"4.4.0"},"reference-count":110,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T00:00:00Z","timestamp":1653868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","internationaljournalofcardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1016\/j.ijcard.2022.05.065","type":"journal-article","created":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T02:00:17Z","timestamp":1654048817000},"page":"158-167","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":108,"special_numbering":"C","title":["Clinical features and complications of Loeys-Dietz syndrome: A systematic review"],"prefix":"10.1016","volume":"362","author":[{"given":"Pishoy","family":"Gouda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Habib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Aziz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eitan","family":"Aziza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Welsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0005","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1056\/NEJMoa055695","article-title":"Aneurysm syndromes caused by mutations in the TGF-\u03b2 receptor","volume":"355","author":"Loeys","year":"2006","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.ijcard.2022.05.065_bb0010","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."},{"issue":"2","key":"10.1016\/j.ijcard.2022.05.065_bb0015","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/ng.744","article-title":"Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis","volume":"43","author":"van de Laar","year":"2011","journal-title":"Nat. Genet."},{"issue":"13","key":"10.1016\/j.ijcard.2022.05.065_bb0020","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1016\/j.jacc.2015.01.040","article-title":"Mutations in a TGF-beta ligand, TGFB3, cause syndromic aortic aneurysms and dissections","volume":"65","author":"Bertoli-Avella","year":"2015","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0025","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1038\/ng.2349","article-title":"Loss of function mutations in TGFB2 cause Loeys-Dietz syndrome","volume":"44","author":"Lindsay","year":"2012","journal-title":"Nat. Genet."},{"issue":"12","key":"10.1016\/j.ijcard.2022.05.065_bb0030","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1002\/humu.22854","article-title":"SMAD2 mutations are associated with arterial aneurysms and dissections","volume":"36","author":"Micha","year":"2015","journal-title":"Hum. Mutat."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0035","first-page":"576","article-title":"Loeys\u2013Dietz syndrome: a primer for diagnosis and management","volume":"16","author":"MacCarrick","year":"2014","journal-title":"Genetics"},{"key":"10.1016\/j.ijcard.2022.05.065_bb0040","author":"Loeys"},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0045","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s13643-020-01542-z","article-title":"PRISMA-S: an extension to the PRISMA statement for reporting literature searches in systematic reviews","volume":"10","author":"Rethlefsen","year":"2021","journal-title":"Syst. Rev."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0050","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbi.2019.103208","article-title":"The REDCap consortium: building an international community of software platform partners","volume":"95","author":"Harris","year":"2019","journal-title":"J. Biomed. Inform."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0055","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.jclinepi.2017.04.026","article-title":"CARE guidelines for case reports: explanation and elaboration document","volume":"89","author":"Riley","year":"2017","journal-title":"J. Clin. Epidemiol."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0060","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.116.001485","article-title":"International registry of patients carrying TGFBR1 or TGFBR2 mutations results of the MAC (Montalcino Aortic Consortium)","volume":"9","author":"Jondeau","year":"2016","journal-title":"Circ. Cardiovasc. Genet."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0065","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1136\/heartjnl-2015-308535","article-title":"Heterogeneity of aortic disease severity in patients with Loeys\u2013Dietz syndrome","volume":"102","author":"Teixid\u00f3-Tura","year":"2016","journal-title":"Heart."},{"issue":"12","key":"10.1016\/j.ijcard.2022.05.065_bb0070","doi-asserted-by":"crossref","DOI":"10.3390\/jcm8122079","article-title":"Case-matched comparison of cardiovascular outcome in Loeys-Dietz syndrome versus Marfan syndrome","volume":"8","author":"M\u00fchlst\u00e4dt","year":"2019","journal-title":"J. Clin. Med."},{"issue":"10","key":"10.1016\/j.ijcard.2022.05.065_bb0075","doi-asserted-by":"crossref","DOI":"10.3390\/genes10100764","article-title":"Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data","volume":"10","author":"Camerota","year":"2019","journal-title":"Genes (Basel)"},{"issue":"25","key":"10.1016\/j.ijcard.2022.05.065_bb0080","doi-asserted-by":"crossref","first-page":"2541","DOI":"10.1161\/CIRCULATIONAHA.109.887042","article-title":"Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders","volume":"120","author":"Attias","year":"2009","journal-title":"Circulation."},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0085","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/jmedgenet-2011-100382","article-title":"Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome","volume":"49","author":"van de Laar","year":"2012","journal-title":"J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0090","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1132","article-title":"Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature","volume":"8","author":"Chesneau","year":"2020","journal-title":"Mol. Genet. Genomic Med."},{"issue":"7","key":"10.1016\/j.ijcard.2022.05.065_bb0095","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1002\/ajmg.a.61608","article-title":"Aortic arch geometry predicts outcome in patients with Loeys\u2013Dietz syndrome independent of the causative gene","volume":"182","author":"ESL","year":"2020","journal-title":"Am. J. Med. Genet. A"},{"issue":"11","key":"10.1016\/j.ijcard.2022.05.065_bb0100","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.118.002329","article-title":"Aortic dimensions and clinical outcome in patients with SMAD3 mutations","volume":"11","author":"van den Hoven","year":"2018","journal-title":"Circ. Genom Precis. Med."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0105","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1038\/ng.2348","article-title":"TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome","volume":"44","author":"Boileau","year":"2012","journal-title":"Nat. Genet."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0110","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1038\/ng.2349","article-title":"Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm","volume":"44","author":"Lindsay","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0115","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.cca.2014.07.016","article-title":"Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease","volume":"437","author":"Gago-D\u00edaz","year":"2014","journal-title":"Clin. Chim. Acta"},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0120","first-page":"A1","article-title":"1 Imaging cardiovascular features of a family with type 4 loeys-dietz syndrome","volume":"105","author":"Budaj","year":"2019","journal-title":"Heart."},{"issue":"10","key":"10.1016\/j.ijcard.2022.05.065_bb0125","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1136\/jmedgenet-2019-106678","article-title":"Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation","volume":"57","author":"Jani","year":"2020","journal-title":"J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0130","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1111\/cge.13700","article-title":"Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient","volume":"97","author":"Marsili","year":"2020","journal-title":"Clin. Genet."},{"issue":"9","key":"10.1016\/j.ijcard.2022.05.065_bb0135","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1136\/jmg.2008.062844","article-title":"Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations","volume":"46","author":"Tran-Fadulu","year":"2009","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0140","doi-asserted-by":"crossref","DOI":"10.5761\/atcs.oa.20-00223","article-title":"Surgical outcome and histological differences between individuals with TGFBR1 and TGFBR2 mutations in Loeys-Dietz syndrome","author":"Seike","year":"2021","journal-title":"Ann. Thoracic Cardiovasc. Surg."},{"issue":"Suppl. 2","key":"10.1016\/j.ijcard.2022.05.065_bb0145","article-title":"Description of aortic root growth and outcomes in a cohort of pediatric patients with loeys-dietz syndrome","volume":"130","author":"Viswanathan","year":"2014","journal-title":"Circulation"},{"issue":"9","key":"10.1016\/j.ijcard.2022.05.065_bb0150","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1016\/S0735-1097(19)31240-9","article-title":"Longitudinal aortic root growth in children with Loeys-Dietz syndromes 1,2, and 4","volume":"73","author":"Lovin","year":"2019","journal-title":"J. Am. Coll. Cardiol."},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0155","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1097\/RCT.0000000000000764","article-title":"Carotid artery tortuosity index is associated with the need for early aortic root replacement in patients with Loeys-Dietz syndrome","volume":"42","author":"Chu","year":"2018","journal-title":"J. Comput. Assist. Tomogr."},{"issue":"Suppl. 1","key":"10.1016\/j.ijcard.2022.05.065_bb0160","article-title":"Vertebral artery tortuosity index is a novel biomarker of surgery and aortic dissection or rupture in children and young adults: Findings from the national registry of genetically triggered thoracic aortic aneurysms and cardiovascular conditions","volume":"34","author":"Morris","year":"2014","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"issue":"7","key":"10.1016\/j.ijcard.2022.05.065_bb0165","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1002\/ajmg.a.61608","article-title":"Aortic arch geometry predicts outcome in patients with Loeys\u2013Dietz syndrome independent of the causative gene","volume":"182","author":"Mariucci","year":"2020","journal-title":"Am. J. Med. Genet. A"},{"issue":"7","key":"10.1016\/j.ijcard.2022.05.065_bb0170","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1161\/CIRCULATIONAHA.114.014934","article-title":"Segmental aortic stiffness in children and young adults with connective tissue disorders: relationships with age, aortic size, rate of dilation, and surgical root replacement","volume":"132","author":"Prakash","year":"2015","journal-title":"Circulation."},{"issue":"9","key":"10.1016\/j.ijcard.2022.05.065_bb0175","first-page":"1035","article-title":"Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys\u2013Dietz syndromes","volume":"22","author":"Chivulescu","year":"2020","journal-title":"Eur. Heart"},{"issue":"13","key":"10.1016\/j.ijcard.2022.05.065_bb0180","doi-asserted-by":"crossref","first-page":"2284","DOI":"10.1016\/S0735-1097(16)32285-9","article-title":"Identifying aortic aneurysm syndromes in pediatric patients with aortic root dilation","volume":"67","author":"Patel","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"issue":"38","key":"10.1016\/j.ijcard.2022.05.065_bb0185","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.avsg.2016.06.007","article-title":"Surgical management of peripheral vascular manifestations of Loeys-Dietz syndrome","author":"Beaulieu","year":"2017","journal-title":"Ann. Vasc. Surg."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0190","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.3174\/ajnr.A4718","article-title":"Prevalence of intracranial aneurysms in patients with connective tissue diseases: a retrospective study","volume":"37","author":"Kim","year":"2016","journal-title":"AJNR Am. J. Neuroradiol."},{"issue":"4","key":"10.1016\/j.ijcard.2022.05.065_bb0195","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s00062-019-00838-5","article-title":"The chalice sign\u202f: characteristic morphology of the cervical carotid bifurcation in patients with Loeys-Dietz syndrome","volume":"30","author":"Benson","year":"2020","journal-title":"Clin. Neuroradiol."},{"issue":"4","key":"10.1016\/j.ijcard.2022.05.065_bb0200","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/s11604-010-0420-6","article-title":"High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome","volume":"28","author":"Kono","year":"2010","journal-title":"Jpn. J. Radiol."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0205","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.3174\/ajnr.A1651","article-title":"Neuroradiologic manifestations of Loeys-Dietz syndrome type 1","volume":"30","author":"Rodrigues","year":"2009","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0210","doi-asserted-by":"crossref","first-page":"116633","DOI":"10.1016\/j.jns.2019.116633","article-title":"Neurovascular findings in children and young adults with Loeys-Dietz syndromes: Informing recommendations for screening","volume":"409","author":"LoPresti","year":"2020","journal-title":"J. Neurol. Sci."},{"issue":"3","key":"10.1016\/j.ijcard.2022.05.065_bb0215","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1177\/1358863X19900923","article-title":"High prevalence of arterial dissection in patients with Loeys\u2013Dietz syndrome and cerebral aneurysm","volume":"25","author":"Spinardi","year":"2020","journal-title":"Vascular Med. (UK)"},{"issue":"Suppl. 1","key":"10.1016\/j.ijcard.2022.05.065_bb0220","first-page":"80","article-title":"Loeys-Dietz syndrome: Comprehensive assessment by whole body MRI","volume":"20","author":"Bradley TJG","year":"2010","journal-title":"Cardiol. Young"},{"key":"10.1016\/j.ijcard.2022.05.065_bb0225","article-title":"The differences in surgical long-term outcomes between Marfan syndrome and Loeys\u2013Dietz syndrome","author":"Seike","year":"2020","journal-title":"J. Thorac. Cardiovasc. Surg."},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0230","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1016\/j.athoracsur.2012.05.111","article-title":"Surgical experience with aggressive aortic pathologic process in Loeys-Dietz syndrome","volume":"94","author":"Iba","year":"2012","journal-title":"Ann. Thorac. Surg."},{"issue":"2","key":"10.1016\/j.ijcard.2022.05.065_bb0235","doi-asserted-by":"crossref","DOI":"10.1016\/j.jtcvs.2018.03.172","article-title":"Loeys-Dietz syndrome: Intermediate-term outcomes of medically and surgically managed patients","volume":"157","author":"Aftab","year":"2019","journal-title":"J. Thorac. Cardiovasc. Surg."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0240","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1093\/ejcts\/ezx147","article-title":"Cardiovascular surgery in Loeys\u2013Dietz syndrome types 1\u20134","volume":"52","author":"Krohg-S\u00f8rensen","year":"2017","journal-title":"Eur. J. Cardiothorac. Surg."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0245","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1016\/j.jtcvs.2009.02.007","article-title":"Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome","volume":"137","author":"Everitt","year":"2009","journal-title":"J. Thorac. Cardiovasc. Surg."},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0250","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1016\/j.jtcvs.2019.07.130","article-title":"Management of the aortic arch in patients with Loeys\u2013Dietz syndrome","volume":"160","author":"Schoenhoff","year":"2020","journal-title":"J. Thorac. Cardiovasc. Surg."},{"issue":"3","key":"10.1016\/j.ijcard.2022.05.065_bb0255","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1093\/ejcts\/ezu002","article-title":"Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome","volume":"46","author":"Schoenhoff","year":"2014","journal-title":"Eur. J. Cardiothorac. Surg."},{"issue":"4","key":"10.1016\/j.ijcard.2022.05.065_bb0260","doi-asserted-by":"crossref","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."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0265","doi-asserted-by":"crossref","DOI":"10.1016\/j.athoracsur.2018.10.058","article-title":"Successful heart transplantation in a patient with Loeys-Dietz syndrome","volume":"107","author":"Feroe","year":"2019","journal-title":"Ann. Thorac. Surg."},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0270","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":"10.1016\/j.ijcard.2022.05.065_bb0275","doi-asserted-by":"crossref","first-page":"45","DOI":"10.24255\/hbj\/115998","article-title":"Spontaneous coronary artery dissection (SCAD) involving both coronary arteries in an individual with Loeys-Dietz syndrome","volume":"4","author":"Rynkiewicz","year":"2019","journal-title":"Heart Beat"},{"issue":"2","key":"10.1016\/j.ijcard.2022.05.065_bb0280","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.amjcard.2019.04.035","article-title":"Familial spontaneous coronary artery dissection and the SMAD-3 mutation","volume":"124","author":"Solomonica","year":"2019","journal-title":"Am. J. Cardiol."},{"issue":"9","key":"10.1016\/j.ijcard.2022.05.065_bb0285","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."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0290","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."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0295","doi-asserted-by":"crossref","DOI":"10.1097\/BPO.0000000000001203","article-title":"Spondylolisthesis is common, early, and severe in Loeys-Dietz syndrome","volume":"38","author":"Kirby","year":"2018","journal-title":"J. Pediatr. Orthop."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0300","doi-asserted-by":"crossref","DOI":"10.1097\/BPO.0000000000000833","article-title":"Management of scoliosis in patients with Loeys-Dietz syndrome","volume":"37","author":"Bressner","year":"2017","journal-title":"J. Pediatr. Orthop."},{"issue":"9","key":"10.1016\/j.ijcard.2022.05.065_bb0305","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.2106\/JBJS.I.01140","article-title":"Musculoskeletal findings of Loeys-Dietz syndrome","volume":"92","author":"Erkula","year":"2010","journal-title":"J. Bone Joint Surg. Am."},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0310","doi-asserted-by":"crossref","first-page":"411","DOI":"10.2106\/JBJS.N.00680","article-title":"High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome","volume":"97","author":"Fuhrhop","year":"2015","journal-title":"J. Bone Joint Surg. Am."},{"issue":"17","key":"10.1016\/j.ijcard.2022.05.065_bb0315","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.2106\/JBJS.O.00290","article-title":"Genetic risk for aortic aneurysm in adolescent idiopathic scoliosis","volume":"97","author":"Haller","year":"2015","journal-title":"J. Bone Joint Surg. Am."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0320","doi-asserted-by":"crossref","first-page":"1910","DOI":"10.1002\/ajmg.a.36029","article-title":"Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome","volume":"161a","author":"Tan","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"11","key":"10.1016\/j.ijcard.2022.05.065_bb0325","article-title":"Orthopaedic management of Loeys-Dietz syndrome: a systematic review","volume":"5","author":"Lynch","year":"2021","journal-title":"J. Am. Acad. Orthop. Surg. Glob. Res. Rev."},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0330","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1186\/s13023-019-1250-y","article-title":"Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study","volume":"14","author":"Nguyen","year":"2019","journal-title":"Orphanet. J. Rare Dis."},{"issue":"1 SUPPL","key":"10.1016\/j.ijcard.2022.05.065_bb0335","first-page":"P104","article-title":"Otologic and audiologic manifestations in loeys-dietz syndrome","volume":"163","author":"Jeon","year":"2020","journal-title":"Otolaryngol. Head Neck Surg."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0340","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1136\/bjophthalmol-2017-311254","article-title":"Ocular findings in Loeys-Dietz syndrome","volume":"102","author":"Busch","year":"2018","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0345","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ridd.2018.08.003","article-title":"Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome","volume":"83","author":"Collins","year":"2018","journal-title":"Res. Dev. Disabil."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0350","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1111\/cge.12308","article-title":"Dural ectasia in Loeys\u2013Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation","volume":"86","author":"Sheikhzadeh","year":"2014","journal-title":"Clin. Genet."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0355","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1016\/j.spinee.2019.04.010","article-title":"Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study","volume":"19","author":"B\u00f6ker","year":"2019","journal-title":"Spine J."},{"issue":"3","key":"10.1016\/j.ijcard.2022.05.065_bb0360","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1399-0004.2008.01126.x","article-title":"Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations","volume":"75","author":"S\u00f6ylen","year":"2009","journal-title":"Clin. Genet."},{"issue":"9","key":"10.1016\/j.ijcard.2022.05.065_bb0365","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0075264","article-title":"Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls","volume":"8","author":"Kono","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ijcard.2022.05.065_bb0370","article-title":"Audit of gastrointestinal manifestations in patients with Loeys\u2013Dietz syndrome and vascular Ehlers\u2013Danlos syndrome","author":"Wang","year":"2020","journal-title":"Dig. Dis. Sci."},{"issue":"9","key":"10.1016\/j.ijcard.2022.05.065_bb0375","doi-asserted-by":"crossref","first-page":"2058","DOI":"10.1097\/MIB.0000000000000872","article-title":"Increased prevalence of inflammatory bowel disease in patients with mutations in genes encoding the receptor subunits for TGF beta","volume":"22","author":"Guerrerio","year":"2016","journal-title":"Inflamm. Bowel Dis."},{"issue":"195","key":"10.1016\/j.ijcard.2022.05.065_bb0380","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3006448","article-title":"TGF beta receptor mutations impose a strong predisposition for human allergic disease","volume":"5","author":"Frischmeyer-Guerrerio","year":"2013","journal-title":"Sci. Transl. Med."},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0385","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/s12876-020-01213-2","article-title":"Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome","volume":"20","author":"Frischmeyer-Guerrerio","year":"2020","journal-title":"BMC Gastroenterol."},{"issue":"3","key":"10.1016\/j.ijcard.2022.05.065_bb0390","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.immuni.2006.07.011","article-title":"Transforming growth factor-\u03b2 controls development, homeostasis, and tolerance of T cells by regulatory T cell-dependent and -independent mechanisms","volume":"25","author":"Li","year":"2006","journal-title":"Immunity."},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0395","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.a.61396","article-title":"Adults with Loeys\u2013Dietz syndrome and vascular Ehlers\u2013Danlos syndrome: A cross-sectional study of health burden perspectives","volume":"182","author":"Johansen","year":"2020","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ijcard.2022.05.065_bb0400","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ijcard.2016.10.024","article-title":"Loeys\u2013Dietz syndrome and pregnancy: The first ten years","volume":"226","author":"Frise","year":"2017","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0405","article-title":"Loeys\u2013Dietz syndrome in pregnancy","author":"Thomas","year":"2019","journal-title":"Obstet. Med."},{"issue":"3","key":"10.1016\/j.ijcard.2022.05.065_bb0410","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1002\/uog.22003","article-title":"Prenatal ultrasound features of Loeys\u2013Dietz syndrome Type 4","volume":"57","author":"Russo","year":"2020","journal-title":"Ultrasound Obstet. Gynecol."},{"issue":"4","key":"10.1016\/j.ijcard.2022.05.065_bb0415","first-page":"263","article-title":"Loeys-Dietz syndrome and pregnancy: two case reports and literature review S\u00edndrome de Loeys-Dietz e gravidez: dois casos cl\u00ednicos e revis\u00e3o da literatura","volume":"14","author":"Vargas","year":"2020","journal-title":"Acta Obstet. Ginecol."},{"issue":"5","key":"10.1016\/j.ijcard.2022.05.065_bb0420","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1002\/ajmg.a.33813","article-title":"Expanding the skeletal phenotype of Loeys-Dietz syndrome","volume":"155a","author":"Sousa","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"issue":"9 Supplement 1","key":"10.1016\/j.ijcard.2022.05.065_bb0425","doi-asserted-by":"crossref","first-page":"2527","DOI":"10.1016\/S0735-1097(19)33133-X","article-title":"Aortopathy and pregnancy: it takes a village","volume":"73","author":"Verma","year":"2019","journal-title":"J. Am. Coll. Cardiol."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0430","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1097\/AOG.0000000000002615","article-title":"Obstetric management of Loeys-Dietz syndrome","volume":"131","author":"Russo","year":"2018","journal-title":"Obstet. Gynecol."},{"issue":"11","key":"10.1016\/j.ijcard.2022.05.065_bb0435","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1007\/s11748-012-0073-8","article-title":"Surgical treatment for acute type A aortic dissection during pregnancy (16 weeks) with Loeys-Dietz syndrome","volume":"60","author":"Kunishige","year":"2012","journal-title":"Gen. Thorac. Cardiovasc. Surg."},{"issue":"3","key":"10.1016\/j.ijcard.2022.05.065_bb0440","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1093\/rheumatology\/ket138","article-title":"A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign","volume":"53","author":"Mehta","year":"2014","journal-title":"Rheumatology (Oxford)"},{"issue":"4","key":"10.1016\/j.ijcard.2022.05.065_bb0445","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1213\/XAA.0000000000000114","article-title":"Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome","volume":"4","author":"Cronin","year":"2015","journal-title":"A A Case Rep."},{"issue":"Suppl. 1","key":"10.1016\/j.ijcard.2022.05.065_bb0450","first-page":"S25","article-title":"Loeys Dietz syndrome: general vs regional anaesthesia for caesarean delivery","volume":"20","author":"Hooker","year":"2011","journal-title":"Int. J. Obstet. Anesth."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0455","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.ijcard.2015.07.109","article-title":"A novel mutation of TGFBR2 causing Loeys\u2013Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections","volume":"201","author":"Fujita","year":"2015","journal-title":"Int. J. Cardiol."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0460","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1213\/XAA.0000000000000561","article-title":"Perioperative anesthetic management for cesarean delivery in a parturient with type IV Loeys-Dietz syndrome: a case report","volume":"9","author":"Kapoor","year":"2017","journal-title":"A A Case Rep."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0465","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1002\/ajmg.a.37694","article-title":"Pregnancy after aortic root replacement in Loeys-Dietz syndrome: high risk of aortic dissection","volume":"170","author":"Braverman","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0470","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000236357","article-title":"Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation","volume":"26","author":"Gutman","year":"2009","journal-title":"Fetal Diagn. Ther."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0475","article-title":"Maternal Loeys-Dietz syndrome (transforming growth factor ligand 2) in a twin pregnancy: Case report and discussion","volume":"7","author":"Bashari","year":"2019","journal-title":"SAGE Open Med. Case Rep."},{"issue":"29","key":"10.1016\/j.ijcard.2022.05.065_bb0480","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.avsg.2015.04.051","article-title":"50 (CR). Loeys-Dietz syndrome, pregnancy and aortic degeneration","volume":"4","author":"Crawford","year":"2015","journal-title":"Ann. Vascular"},{"key":"10.1016\/j.ijcard.2022.05.065_bb0485","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.ijcard.2016.04.025","article-title":"Loeys Dietz syndrome and pregnancy: a case report with literature review and a proposed focused management protocol","volume":"214","author":"Cauldwell","year":"2016","journal-title":"Int. J. Cardiol."},{"issue":"2","key":"10.1016\/j.ijcard.2022.05.065_bb0490","doi-asserted-by":"crossref","first-page":"S757","DOI":"10.1016\/j.athoracsur.2006.10.091","article-title":"Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease","volume":"83","author":"Williams","year":"2007","journal-title":"Ann. Thorac. Surg."},{"key":"10.1016\/j.ijcard.2022.05.065_bb0495","doi-asserted-by":"crossref","DOI":"10.1111\/jog.14657","article-title":"Aortic dissection during pregnancy and puerperium: a Japanese nationwide survey","author":"Tanaka","year":"2021","journal-title":"J. Obstet. Gynaecol. Res."},{"issue":"8","key":"10.1016\/j.ijcard.2022.05.065_bb0500","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1111\/1471-0528.15670","article-title":"Maternal and fetal outcomes in pregnancies complicated by the inherited aortopathy Loeys\u2013Dietz syndrome","volume":"126","author":"Cauldwell","year":"2019","journal-title":"BJOG"},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0505","first-page":"58","article-title":"Clinical features and outcomes of pregnancy-related acute aortic dissection","volume":"6","author":"Braverman","year":"2021","journal-title":"JAMA Cardiol."},{"issue":"3","key":"10.1016\/j.ijcard.2022.05.065_bb0510","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1097\/00125817-200205000-00003","article-title":"Prevalence of aortic root dilation in the Ehlers-Danlos syndrome","volume":"4","author":"Wenstrup","year":"2002","journal-title":"Genet. Med."},{"issue":"19","key":"10.1016\/j.ijcard.2022.05.065_bb0515","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1161\/CIRCULATIONAHA.119.043756","article-title":"Inherited thoracic aortic disease: new insights and translational targets","volume":"141","author":"Fletcher","year":"2020","journal-title":"Circulation."},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0520","first-page":"86","article-title":"The expanding clinical spectrum of extracardiovascular and cardiovascular manifestations of heritable thoracic aortic aneurysm and dissection","volume":"32","author":"Bradley","year":"2016","journal-title":"Can. J. Cardiol."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0525","doi-asserted-by":"crossref","first-page":"582","DOI":"10.21037\/acs.2017.11.03","article-title":"Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome","volume":"6","author":"Meester","year":"2017","journal-title":"Ann. Cardiothorac. Surg."},{"issue":"1","key":"10.1016\/j.ijcard.2022.05.065_bb0530","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.hfc.2021.07.007","article-title":"The heart muscle and valve involvement in Marfan syndrome, Loeys-Dietz syndromes, and collagenopathies","volume":"18","author":"Fusco","year":"2022","journal-title":"Heart Fail. Clin."},{"issue":"13","key":"10.1016\/j.ijcard.2022.05.065_bb0535","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1177\/2047487319854552","volume":"27","author":"De Backer","year":"2020","journal-title":"Eur. J. Prev. Cardiol."},{"issue":"6","key":"10.1016\/j.ijcard.2022.05.065_bb0540","first-page":"577","article-title":"Canadian cardiovascular society position statement on the management of thoracic aortic disease","volume":"30","author":"Boodhwani","year":"2014","journal-title":"Can. J. Cardiol."},{"issue":"41","key":"10.1016\/j.ijcard.2022.05.065_bb0545","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1093\/eurheartj\/ehu281","volume":"35","author":"Members ATF","year":"2014","journal-title":"Eur. Heart J."},{"issue":"13","key":"10.1016\/j.ijcard.2022.05.065_bb0550","doi-asserted-by":"crossref","first-page":"e266","DOI":"10.1161\/CIR.0b013e3181d47d48","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":"121","author":"Hiratzka","year":"2010","journal-title":"Circulation."}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527322008130?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527322008130?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T20:57:24Z","timestamp":1759093044000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0167527322008130"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":110,"alternative-id":["S0167527322008130"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2022.05.065","relation":{},"ISSN":["0167-5273"],"issn-type":[{"value":"0167-5273","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical features and complications of Loeys-Dietz syndrome: A systematic review","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2022.05.065","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}