{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T20:23:52Z","timestamp":1790886232536,"version":"4.1.0"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006390","name":"University of Lausanne","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006390","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Increased arterial tortuosity has been associated with various cardiovascular complications. However, the extent and role of arterial tortuosity in non-atherosclerotic vascular diseases remain to be fully elucidated. This study aimed to assess arterial tortuosity index (ATI) in patients with non-atherosclerotic vascular diseases and the associated factors.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>This is a retrospective analysis of patients with non-atherosclerotic vascular diseases referred to the Malformation and Rare Vascular Disease Center at the University Hospital in Lausanne (Switzerland). Computed tomography angiography (CTA) images performed between October 2010 and April 2022 were retrieved and the aortic tortuosity index (ATI) was calculated. Patients were classified based on diagnosis into the following groups: arterial dissection &amp; aneurysm, arteritis &amp; autoimmune disease, hereditary connective tissue diseases, and fibromuscular dysplasia (FMD). Univariate and multivariate logistic regression analysis was used to determine potentially relevant predictors of aortic tortuosity.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The mean age upon computed tomography angiography (CTA) was 46.8 (standard deviation [SD] 14.6) years and 59.1% of the patients were female. Mean ATI was higher in patients over 60\u00a0years old (1.27), in those with arterial aneurysms (mean: 1.11), and in those diagnosed with hypertension (mean: 1.13). When only patients over 60\u00a0years old were considered, those diagnosed with connective tissue diseases had the highest ATI. At multivariate regression analysis, increasing age (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), presence of arterial aneurysms (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), and hypertension (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) were independently associated with ATI.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>The ATI may be a promising tool in diagnostic evaluation, cardiovascular risk stratification, medical or surgical management, and prognostic assessment in several non-atherosclerotic vascular conditions. Further studies with longitudinal design and larger cohorts are needed to validate the role of ATI in the full spectrum of vascular diseases.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-024-03231-9","type":"journal-article","created":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T02:02:07Z","timestamp":1717725727000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5716-4693","authenticated-orcid":false,"given":"Xhyljeta","family":"Luta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Zanchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Fresa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrica","family":"Porceddu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjiv","family":"Keller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Bouchardy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"D\u00e9glise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salah Dine","family":"Qanadli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Kirsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gr\u00e9goire","family":"Wuerzner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Buso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Mazzolai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,7]]},"reference":[{"issue":"43","key":"3231_CR1","doi-asserted-by":"publisher","first-page":"3190","DOI":"10.1093\/eurheartj\/ehx611","volume":"38","author":"P Podolec","year":"2017","unstructured":"Podolec P. Rare cardiovascular diseases. Eur Heart J. 2017;38(43):3190\u20132.","journal-title":"Eur Heart J"},{"issue":"5","key":"3231_CR2","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1161\/HYPERTENSIONAHA.118.11647","volume":"73","author":"S Ciuric\u0103","year":"2019","unstructured":"Ciuric\u0103 S, Lopez-Sublet M, Loeys BL, Radhouani I, Natarajan N, Vikkula M, et al. Arterial tortuosity. Hypertension. 2019;73(5):951\u201360.","journal-title":"Hypertension"},{"issue":"5","key":"3231_CR3","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1177\/000331979804900505","volume":"49","author":"L Del Corso","year":"1998","unstructured":"Del Corso L, Moruzzo D, Conte B, Agelli M, Romanelli AM, Pastine F, et al. Tortuosity, kinking, and coiling of the carotid artery: expression of atherosclerosis or aging? Angiology. 1998;49(5):361\u201371.","journal-title":"Angiology"},{"issue":"10","key":"3231_CR4","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1016\/j.amjcard.2003.07.038","volume":"92","author":"KS Cha","year":"2003","unstructured":"Cha KS, Kim MH, Kim HJ. Prevalence and clinical predictors of severe tortuosity of right subclavian artery in patients undergoing transradial coronary angiography. Am J Cardiol. 2003;92(10):1220\u20132.","journal-title":"Am J Cardiol"},{"issue":"2","key":"3231_CR5","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/S0002-8703(77)80280-9","volume":"94","author":"GM Hutchins","year":"1977","unstructured":"Hutchins GM, Bulkley BH, Miner MM, Boitnott JK. Correlation of age and heart weight with tortuosity and caliber of normal human coronary arteries. Am Heart J. 1977;94(2):196\u2013202.","journal-title":"Am Heart J"},{"issue":"1","key":"3231_CR6","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1186\/s13023-020-01369-w","volume":"15","author":"B \u00c1gg","year":"2020","unstructured":"\u00c1gg B, Szilveszter B, Daradics N, Benke K, Stengl R, Kolossv\u00e1ry M, et al. Increased visceral arterial tortuosity in Marfan syndrome. Orphanet J Rare Dis. 2020;15(1):91.","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"3231_CR7","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1097\/HCO.0000000000000218","volume":"30","author":"SA Morris","year":"2015","unstructured":"Morris SA. Arterial tortuosity in genetic arteriopathies. Curr Opin Cardiol. 2015;30(6):587\u201393.","journal-title":"Curr Opin Cardiol"},{"issue":"3","key":"3231_CR8","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1001\/archneurol.2011.29","volume":"68","author":"MR Naunheim","year":"2011","unstructured":"Naunheim MR, Walcott BP, Nahed BV, MacRae CA, Levinson JR, Ogilvy CS. Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. Arch Neurol. 2011;68(3):369\u201371.","journal-title":"Arch Neurol"},{"issue":"2","key":"3231_CR9","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<121::AID-AJMG1>3.0.CO;2-U","volume":"66","author":"BA Pletcher","year":"1996","unstructured":"Pletcher BA, Fox JE, Boxer RA, Singh S, Blumenthal D, Cohen T, et al. Four sibs with arterial tortuosity: description and review of the literature. Am J Med Genet. 1996;66(2):121\u20138.","journal-title":"Am J Med Genet"},{"issue":"4","key":"3231_CR10","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1007\/s00246-009-9403-8","volume":"30","author":"R Subramanyan","year":"2009","unstructured":"Subramanyan R, Sridhar A, Cherian K. Arterial tortuosity syndrome. Pediatr Cardiol. 2009;30(4):555\u20136.","journal-title":"Pediatr Cardiol"},{"issue":"2","key":"3231_CR11","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<141::AID-AJMG13>3.0.CO;2-6","volume":"91","author":"P Franceschini","year":"2000","unstructured":"Franceschini P, Guala A, Licata D, Di Cara G, Franceschini D. Arterial tortuosity syndrome. Am J Med Genet. 2000;91(2):141\u20133.","journal-title":"Am J Med Genet"},{"issue":"10","key":"3231_CR12","doi-asserted-by":"publisher","first-page":"1236","DOI":"10.1038\/gim.2017.253","volume":"20","author":"A Beyens","year":"2018","unstructured":"Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, et al. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018;20(10):1236\u201345.","journal-title":"Genet Med"},{"key":"3231_CR13","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/1750-1172-4-20","volume":"4","author":"M Ritelli","year":"2009","unstructured":"Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, et al. Arterial tortuosity syndrome in two Italian paediatric patients. Orphanet J Rare Dis. 2009;4:20.","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"3231_CR14","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1159\/000335123","volume":"49","author":"HC Han","year":"2012","unstructured":"Han HC. Twisted blood vessels: symptoms, etiology and biomechanical mechanisms. J Vasc Res. 2012;49(3):185\u201397.","journal-title":"J Vasc Res"},{"issue":"10","key":"3231_CR15","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1161\/CIRCULATIONAHA.107.702720","volume":"116","author":"LA Pape","year":"2007","unstructured":"Pape LA, Tsai TT, Isselbacher EM, Oh JK, O\u2019Gara PT, Evangelista A, et al. Aortic diameter >or = 5.5 cm is not a good predictor of type A aortic dissection: observations from the International Registry of Acute Aortic Dissection (IRAD). Circulation. 2007;116(10):1120\u20137.","journal-title":"Circulation"},{"issue":"6","key":"3231_CR16","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1016\/j.ejcts.2008.12.047","volume":"35","author":"LM Parish","year":"2009","unstructured":"Parish LM, Gorman JH III, Kahn S, Plappert T, St. John-Sutton MG, Bavaria JE, et al. Aortic size in acute type A dissection: implications for preventive ascending aortic replacement\u2606. Eur J Cardiothorac Surg. 2009;35(6):941\u20136.","journal-title":"Eur J Cardiothorac Surg"},{"issue":"4","key":"3231_CR17","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1161\/CIRCULATIONAHA.110.990549","volume":"124","author":"SA Morris","year":"2011","unstructured":"Morris SA, Orbach DB, Geva T, Singh MN, Gauvreau K, Lacro RV. Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders. Circulation. 2011;124(4):388\u201396.","journal-title":"Circulation"},{"issue":"5","key":"3231_CR18","first-page":"656","volume":"7","author":"MF Eleid","year":"2014","unstructured":"Eleid MF, Guddeti RR, Tweet MS, Lerman A, Singh M, Best PJ, et al. Coronary artery tortuosity in spontaneous coronary artery dissection. Circulation. 2014;7(5):656\u201362.","journal-title":"Circulation"},{"issue":"6","key":"3231_CR19","first-page":"548","volume":"9","author":"G Jondeau","year":"2016","unstructured":"Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixedo G, et al. International Registry of Patients Carrying TGFBR1 or TGFBR2 mutations. Circulation. 2016;9(6):548\u201358.","journal-title":"Circulation"},{"key":"3231_CR20","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/j.ijcard.2015.05.072","volume":"194","author":"R Franken","year":"2015","unstructured":"Franken R, El Morabit A, de Waard V, Timmermans J, Scholte AJ, van den Berg MP, et al. Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. Int J Cardiol. 2015;194:7\u201312.","journal-title":"Int J Cardiol"},{"issue":"5","key":"3231_CR21","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1097\/RCT.0000000000000764","volume":"42","author":"LC Chu","year":"2018","unstructured":"Chu LC, Haroun RR, Beaulieu RJ, Black JH 3rd, Dietz HC, Fishman EK. Carotid artery tortuosity index is associated with the need for early aortic root replacement in patients with Loeys-Dietz syndrome. J Comput Assist Tomogr. 2018;42(5):747\u201353.","journal-title":"J Comput Assist Tomogr"},{"key":"3231_CR22","volume-title":"GeneReviews(\u00ae)","author":"B Callewaert","year":"1993","unstructured":"Callewaert B, De Paepe A, Coucke P, et al. Arterial tortuosity syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. GeneReviews(\u00ae). Seattle: University of Washington, Seattle; 1993. Copyright \u00a9 1993-2021, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved."},{"issue":"1","key":"3231_CR23","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1002\/humu.20623","volume":"29","author":"BL Callewaert","year":"2008","unstructured":"Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008;29(1):150\u20138.","journal-title":"Hum Mutat"},{"issue":"8","key":"3231_CR24","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1016\/j.amjcard.2012.05.063","volume":"110","author":"RB Devereux","year":"2012","unstructured":"Devereux RB, de Simone G, Arnett DK, Best LG, Boerwinkle E, Howard BV, et al. Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons \u226515 years of age. Am J Cardiol. 2012;110(8):1189\u201394.","journal-title":"Am J Cardiol"},{"issue":"10","key":"3231_CR25","doi-asserted-by":"publisher","first-page":"1707","DOI":"10.1007\/s00296-021-04832-4","volume":"41","author":"S Malek","year":"2021","unstructured":"Malek S, Reinhold EJ, Pearce GS. The Beighton Score as a measure of generalised joint hypermobility. Rheumatol Int. 2021;41(10):1707\u201316.","journal-title":"Rheumatol Int"},{"issue":"8","key":"3231_CR26","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1016\/S1350-4533(00)00074-6","volume":"22","author":"G Dougherty","year":"2000","unstructured":"Dougherty G, Varro J. A quantitative index for the measurement of the tortuosity of blood vessels. Med Eng Phys. 2000;22(8):567\u201374.","journal-title":"Med Eng Phys"},{"issue":"9","key":"3231_CR27","doi-asserted-by":"publisher","first-page":"1981","DOI":"10.1016\/j.spinee.2015.04.031","volume":"15","author":"B Alicioglu","year":"2015","unstructured":"Alicioglu B, Gulekon N, Akpinar S. Age-related morphologic changes of the vertebral artery in the transverse process. Analysis by multidetector computed tomography angiography. Spine J. 2015;15(9):1981\u20137.","journal-title":"Spine J"},{"issue":"6","key":"3231_CR28","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1016\/j.jcmg.2008.06.010","volume":"1","author":"J Sugawara","year":"2008","unstructured":"Sugawara J, Hayashi K, Yokoi T, Tanaka H. Age-associated elongation of the ascending aorta in adults. JACC Cardiovasc Imaging. 2008;1(6):739\u201348.","journal-title":"JACC Cardiovasc Imaging"},{"issue":"5","key":"3231_CR29","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1093\/ejcts\/ezt597","volume":"45","author":"B Rylski","year":"2014","unstructured":"Rylski B, Desjardins B, Moser W, Bavaria JE, Milewski RK. Gender-related changes in aortic geometry throughout life. Eur J Cardiothorac Surg. 2014;45(5):805\u201311.","journal-title":"Eur J Cardiothorac Surg"},{"issue":"5","key":"3231_CR30","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1007\/s10439-011-0487-y","volume":"40","author":"D Craiem","year":"2012","unstructured":"Craiem D, Chironi G, Redheuil A, Casciaro M, Mousseaux E, Simon A, et al. Aging impact on thoracic aorta 3D morphometry in intermediate-risk subjects: looking beyond coronary arteries with non-contrast cardiac CT. Ann Biomed Eng. 2012;40(5):1028\u201338.","journal-title":"Ann Biomed Eng"},{"issue":"21","key":"3231_CR31","doi-asserted-by":"publisher","first-page":"1772","DOI":"10.1136\/heartjnl-2017-312866","volume":"104","author":"BP Adriaans","year":"2018","unstructured":"Adriaans BP, Heuts S, Gerretsen S, Cheriex EC, Vos R, Natour E, et al. Aortic elongation part I: the normal aortic ageing process. Heart. 2018;104(21):1772\u20137.","journal-title":"Heart"},{"issue":"4","key":"3231_CR32","doi-asserted-by":"publisher","first-page":"e0215549","DOI":"10.1371\/journal.pone.0215549","volume":"14","author":"VM Belvroy","year":"2019","unstructured":"Belvroy VM, de Beaufort HWL, van Herwaarden JA, Bismuth J, Moll FL, Trimarchi S. Tortuosity of the descending thoracic aorta: normal values by age. PLoS One. 2019;14(4):e0215549.","journal-title":"PLoS ONE"},{"issue":"1","key":"3231_CR33","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1111\/ene.13491","volume":"25","author":"HFG Martins","year":"2018","unstructured":"Martins HFG, Mayer A, Batista P, Soares F, Almeida V, Pedro AJ, et al. Morphological changes of the internal carotid artery: prevalence and characteristics. A clinical and ultrasonographic study in a series of 19 804 patients over 25 years old. Eur J Neurol. 2018;25(1):171\u20137.","journal-title":"Eur J Neurol"},{"key":"3231_CR34","first-page":"23","volume":"14","author":"J Chiha","year":"2017","unstructured":"Chiha J, Mitchell P, Gopinath B, Burlutsky G, Kovoor P, Thiagalingam A. Gender differences in the prevalence of coronary artery tortuosity and its association with coronary artery disease. Int J Cardiol Heart Vasc. 2017;14:23\u20137.","journal-title":"Int J Cardiol Heart Vasc"},{"issue":"4","key":"3231_CR35","first-page":"14","volume":"105","author":"SS Groves","year":"2009","unstructured":"Groves SS, Jain AC, Warden BE, Gharib W, Beto RJ 2nd. Severe coronary tortuosity and the relationship to significant coronary artery disease. West Virginia Med J. 2009;105(4):14\u20137.","journal-title":"West Virginia Med J"},{"issue":"1","key":"3231_CR36","first-page":"22","volume":"17","author":"P Pancera","year":"1998","unstructured":"Pancera P, Ribul M, De Marchi S, Arosio E, Lechi A. Prevalence of morphological alterations in cervical vessels: a colour duplex ultrasonographic study in a series of 3300 subjects. Int Angiol. 1998;17(1):22\u20137.","journal-title":"Int Angiol"},{"issue":"1","key":"3231_CR37","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1046\/j.1365-2796.2000.00611.x","volume":"248","author":"P Pancera","year":"2000","unstructured":"Pancera P, Ribul M, Presciuttini B, Lechi A. Prevalence of carotid artery kinking in 590 consecutive subjects evaluated by Echocolordoppler. Is there a correlation with arterial hypertension? J Intern Med. 2000;248(1):7\u201312.","journal-title":"J Intern Med"},{"issue":"8","key":"3231_CR38","doi-asserted-by":"publisher","first-page":"e24232","DOI":"10.1371\/journal.pone.0024232","volume":"6","author":"Y Li","year":"2011","unstructured":"Li Y, Shen C, Ji Y, Feng Y, Ma G, Liu N. Clinical implication of coronary tortuosity in patients with coronary artery disease. PLoS One. 2011;6(8):e24232.","journal-title":"PLoS ONE"},{"issue":"Suppl 10","key":"3231_CR39","doi-asserted-by":"publisher","first-page":"S15","DOI":"10.1186\/1471-2105-12-S10-S15","volume":"12 Suppl 10","author":"KT Diedrich","year":"2011","unstructured":"Diedrich KT, Roberts JA, Schmidt RH, Kang CK, Cho ZH, Parker DL. Validation of an arterial tortuosity measure with application to hypertension collection of clinical hypertensive patients. BMC Bioinformatics. 2011;12 Suppl 10(Suppl 10):S15.","journal-title":"BMC Bioinformatics"},{"issue":"33","key":"3231_CR40","doi-asserted-by":"publisher","first-page":"e16802","DOI":"10.1097\/MD.0000000000016802","volume":"98","author":"I Moon","year":"2019","unstructured":"Moon I, Jin KN, Kim H-L, Suh HJ, Lim W-H, Seo J-B, et al. Association of arterial stiffness with aortic calcification and tortuosity. Medicine. 2019;98(33):e16802.","journal-title":"Medicine"},{"issue":"1","key":"3231_CR41","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1186\/s12893-022-01470-w","volume":"22","author":"M Li","year":"2022","unstructured":"Li M, Wang Z-W, Fang L-J, Cheng S-Q, Wang X, Liu N-F. Correlation analysis of coronary artery tortuosity and calcification score. BMC Surg. 2022;22(1):66.","journal-title":"BMC Surg"},{"issue":"3","key":"3231_CR42","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ng1511","volume":"37","author":"BL Loeys","year":"2005","unstructured":"Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37(3):275\u201381.","journal-title":"Nat Genet"},{"issue":"3","key":"3231_CR43","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/j.jcmg.2012.07.018","volume":"6","author":"AS Shirali","year":"2013","unstructured":"Shirali AS, Bischoff MS, Lin HM, Oyfe I, Lookstein R, Griepp RB, et al. Predicting the risk for acute type B aortic dissection in hypertensive patients using anatomic variables. JACC Cardiovasc Imaging. 2013;6(3):349\u201357.","journal-title":"JACC Cardiovasc Imaging"},{"key":"3231_CR44","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/j.ijcard.2018.10.052","volume":"284","author":"BA Alhafez","year":"2019","unstructured":"Alhafez BA, Truong VTT, Ocazionez D, Sohrabi S, Sandhu H, Estrera A, et al. Aortic arch tortuosity, a novel biomarker for thoracic aortic disease, is increased in adults with bicuspid aortic valve. Int J Cardiol. 2019;284:84\u20139.","journal-title":"Int J Cardiol"},{"issue":"6","key":"3231_CR45","first-page":"632","volume":"62","author":"J Chen","year":"2021","unstructured":"Chen J, Chen S, Zhang B, Liu J. Correlations between aortic tortuosity, diameter and presence of acute type A aortic dissection. J Cardiovasc Surg (Torino). 2021;62(6):632\u20138.","journal-title":"J Cardiovasc Surg (Torino)"},{"issue":"5","key":"3231_CR46","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1177\/1358863X14547122","volume":"19","author":"SS Sethi","year":"2014","unstructured":"Sethi SS, Lau JF, Godbold J, Gustavson S, Olin JW. The S curve: a novel morphological finding in the internal carotid artery in patients with fibromuscular dysplasia. Vasc Med. 2014;19(5):356\u201362.","journal-title":"Vasc Med"},{"issue":"8","key":"3231_CR47","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1093\/ajh\/hpx069","volume":"30","author":"DJL van Twist","year":"2017","unstructured":"van Twist DJL, de Leeuw PW, Kroon AA. Coronary tortuosity: a clue to the diagnosis of fibromuscular dysplasia? Am J Hypertens. 2017;30(8):776\u201380.","journal-title":"Am J Hypertens"},{"issue":"2","key":"3231_CR48","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1001\/jamacardio.2021.4690","volume":"7","author":"A Persu","year":"2022","unstructured":"Persu A, Lopez-Sublet M, Al-Hussaini A, Pappaccogli M, Radhouani I, Van der Niepen P, et al. Prevalence and disease spectrum of extracoronary arterial abnormalities in spontaneous coronary artery dissection. JAMA Cardiology. 2022;7(2):159\u201366.","journal-title":"JAMA Cardiology"}],"updated-by":[{"DOI":"10.1186\/s13023-025-03964-1","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000}}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03231-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03231-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03231-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T12:02:50Z","timestamp":1756900970000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03231-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,7]]},"references-count":48,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3231"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03231-9","relation":{"correction":[{"id-type":"doi","id":"10.1186\/s13023-025-03964-1","asserted-by":"object"}]},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,7]]},"assertion":[{"value":"22 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 September 2025","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1186\/s13023-025-03964-1","URL":"https:\/\/doi.org\/10.1186\/s13023-025-03964-1","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by Local Ethics Committee (Protocol number: 2023\u201301993). All participants gave fully informed and signed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"227"}}