{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T02:24:40Z","timestamp":1790735080224,"version":"4.1.0"},"reference-count":229,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T00:00:00Z","timestamp":1658448000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA\/D) is represented by the early detection of a disease that is both deadly and \u201celusive\u201d, as it generally grows asymptomatically prior to rupture, leading to death in the majority of cases. Gender differences exist in aortic dissection in terms of incidence and treatment options. Efforts have been made to identify biomarkers that may help in early diagnosis and in detecting those patients at a higher risk of developing life-threatening complications. As soon as the hereditability of the TAA\/D was demonstrated, several genetic factors were found to be associated with both the syndromic and non-syndromic forms of the disease, and they currently play a role in patient diagnosis\/prognosis and management-guidance purposes. Likewise, circulating biomarker could represent a valuable resource in assisting the diagnosis, and several studies have attempted to identify specific molecules that may help with risk stratification outside the emergency department. Even if promising, those data lack specificity\/sensitivity, and, in most cases, they need more testing before entering the \u201cclinical arena\u201d. This review summarizes the state of the art of the laboratory in TAA\/D diagnostics, with particular reference to the current and future role of molecular-genetic testing.<\/jats:p>","DOI":"10.3390\/diagnostics12081785","type":"journal-article","created":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T12:53:45Z","timestamp":1658494425000},"page":"1785","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection"],"prefix":"10.3390","volume":"12","author":[{"given":"Rosina","family":"De Cario","sequence":"first","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0045-9191","authenticated-orcid":false,"given":"Marco","family":"Giannini","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Cassioli","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ada","family":"Kura","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"Gori","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Marcucci","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Nistri","sequence":"additional","affiliation":[{"name":"Department of Cardiology, CMSR, 36077 Altavilla Vicentina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guglielmina","family":"Pepe","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Reference Regional (Tuscany) Center for Marfan Syndrome and Related Disorders, Largo Brambilla 3, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8708-9444","authenticated-orcid":false,"given":"Betti","family":"Giusti","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Reference Regional (Tuscany) Center for Marfan Syndrome and Related Disorders, Largo Brambilla 3, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Sticchi","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine, University of Florence\u2014Atherothrombotic Diseases Unit, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Reference Regional (Tuscany) Center for Marfan Syndrome and Related Disorders, Largo Brambilla 3, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/s41569-020-00472-6","article-title":"Epidemiology and Management of Aortic Disease: Aortic Aneurysms and Acute Aortic Syndromes","volume":"18","author":"Bossone","year":"2021","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.jvs.2012.04.053","article-title":"Natural History of Thoracic Aortic Aneurysms","volume":"56","author":"Kuzmik","year":"2012","journal-title":"J. Vasc. Surg."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"176","DOI":"10.4065\/79.2.176","article-title":"Acute Aortic Dissection: Population-Based Incidence Compared with Degenerative Aortic Aneurysm Rupture","volume":"79","author":"Clouse","year":"2004","journal-title":"Mayo Clin. Proc."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"16053","DOI":"10.1038\/nrdp.2016.53","article-title":"Aortic Dissection","volume":"2","author":"Nienaber","year":"2016","journal-title":"Nat. Rev. Dis. Primer"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2430","DOI":"10.1093\/eurheartj\/ehaa446","article-title":"Sex Differences and Temporal Trends in Aortic Dissection: A Population-Based Study of Incidence, Treatment Strategies, and Outcome in Swedish Patients during 15 Years","volume":"41","author":"Smedberg","year":"2020","journal-title":"Eur. Heart J."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1053\/j.semtcvs.2019.05.035","article-title":"Nonsyndromic Thoracic Aortic Aneurysms and Dissections\u2014Is Screening Possible?","volume":"31","author":"Zafar","year":"2019","journal-title":"Semin. Thorac. Cardiovasc. Surg."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1177\/1358863X18807760","article-title":"Thoracic Aortic Aneurysm","volume":"23","author":"Salameh","year":"2018","journal-title":"Vasc. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1007\/s00246-021-02591-4","article-title":"Impact of Regular Physical Activity on Aortic Diameter Progression in Paediatric Patients with Bicuspid Aortic Valve","volume":"42","author":"Monda","year":"2021","journal-title":"Pediatr. Cardiol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1177\/0218492320943800","article-title":"Thoracic Aortic Aneurysm Gene Dictionary","volume":"29","author":"Rohde","year":"2021","journal-title":"Asian Cardiovasc. Thorac. Ann."},{"key":"ref_10","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":"ref_11","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.5603\/KP.2014.0225","article-title":"2014 ESC Guidelines on the diagnosis and treatment of aortic diseases","volume":"72","author":"Erbel","year":"2014","journal-title":"Kardiol. Pol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s11886-020-01435-6","article-title":"Role of Clinical Genetic Testing in the Management of Aortopathies","volume":"23","author":"Harris","year":"2021","journal-title":"Curr. Cardiol. Rep."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e000169","DOI":"10.1136\/openhrt-2014-000169","article-title":"Guilt by Association: Paradigm for Detecting a Silent Killer (Thoracic Aortic Aneurysm)","volume":"2","author":"Elefteriades","year":"2015","journal-title":"Open Heart"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1161\/CIRCRESAHA.118.313187","article-title":"Cellular Mechanisms of Aortic Aneurysm Formation","volume":"124","author":"Quintana","year":"2019","journal-title":"Circ. Res."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.athoracsur.2006.04.098","article-title":"Familial Thoracic Aortic Aneurysms and Dissections\u2014Incidence, Modes of Inheritance, and Phenotypic Patterns","volume":"82","author":"Albornoz","year":"2006","journal-title":"Ann. Thorac. Surg."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/S0741-5214(97)70261-1","article-title":"Familial Thoracic Aortic Dilatations and Dissections: A Case Control Study","volume":"25","author":"Biddinger","year":"1997","journal-title":"J. Vasc. Surg."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1001\/archsurg.134.4.361","article-title":"Familial Patterns of Thoracic Aortic Aneurysms","volume":"134","author":"Coady","year":"1999","journal-title":"Arch. Surg."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"637","DOI":"10.3171\/jns.2003.99.4.0637","article-title":"A Genealogical Assessment of Heritable Predisposition to Aneurysms","volume":"99","author":"Camp","year":"2003","journal-title":"J. Neurosurg."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/gim.2016.126","article-title":"Loss-of-Function Mutations in the X-Linked Biglycan Gene Cause a Severe Syndromic Form of Thoracic Aortic Aneurysms and Dissections","volume":"19","author":"Meester","year":"2017","journal-title":"Genet. Med."},{"key":"ref_20","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":"ref_21","doi-asserted-by":"crossref","first-page":"e8","DOI":"10.1017\/erm.2013.9","article-title":"Elastic Fibres in Health and Disease","volume":"15","author":"Baldwin","year":"2013","journal-title":"Expert Rev. Mol. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1136\/jmg.2005.034157","article-title":"Aortic Aneurysmal Disease and Cutis Laxa Caused by Defects in the Elastin Gene","volume":"43","author":"Szabo","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1017\/S1047951114000766","article-title":"ELN Gene Triplication Responsible for Familial Supravalvular Aortic Aneurysm","volume":"25","author":"Guemann","year":"2015","journal-title":"Cardiol. Young"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.jtcvs.2012.09.060","article-title":"Genotype-Phenotype Correlation in Patients with Bicuspid Aortic Valve and Aneurysm","volume":"146","author":"Kent","year":"2013","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"ref_25","first-page":"1414","article-title":"Targeted Genetic Analysis in a Large Cohort of Familial and Sporadic Cases of Aneurysm or Dissection of the Thoracic Aorta","volume":"20","author":"Weerakkody","year":"2018","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Ostberg, N.P., Zafar, M.A., Ziganshin, B.A., and Elefteriades, J.A. (2020). The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective. Biomolecules, 10.","DOI":"10.3390\/biom10020182"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"3285","DOI":"10.1093\/eurheartj\/ehv739","article-title":"Genotype Impacts Survival in Marfan Syndrome","volume":"37","author":"Franken","year":"2016","journal-title":"Eur. Heart J."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1161\/CIRCRESAHA.115.307130","article-title":"LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections","volume":"118","author":"Guo","year":"2016","journal-title":"Circ. Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"8759","DOI":"10.1073\/pnas.1601442113","article-title":"Loss of Function Mutation in LOX Causes Thoracic Aortic Aneurysm and Dissection in Humans","volume":"113","author":"Lee","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1172\/JCI83778","article-title":"FOXE3 Mutations Predispose to Thoracic Aortic Aneurysms and Dissections","volume":"126","author":"Kuang","year":"2016","journal-title":"J. Clin. Investig."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1002\/ajmg.a.37568","article-title":"Clinically Relevant Variants Identified in Thoracic Aortic Aneurysm Patients by Research Exome Sequencing","volume":"170","author":"Schubert","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1146\/annurev.genom.8.080706.092303","article-title":"Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction","volume":"9","author":"Milewicz","year":"2008","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/ajmg.a.38580","article-title":"Thoracic Aortic Aneurysm in Patients with Loss of Function Filamin A Mutations: Clinical Characterization, Genetics, and Recommendations","volume":"176","author":"Chen","year":"2018","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/ng1721","article-title":"Mutations in Myosin Heavy Chain 11 Cause a Syndrome Associating Thoracic Aortic Aneurysm\/Aortic Dissection and Patent Ductus Arteriosus","volume":"38","author":"Zhu","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_35","first-page":"1678","article-title":"Curriculum topic: Disease of the aorta and trauma to the aorta and heart The Genetic Architecture of Non-Syndromic Thoracic Aortic Aneurysm","volume":"101","author":"Luyckx","year":"2015","journal-title":"Heart Br. Card. Soc."},{"key":"ref_36","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":"ref_37","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s12967-022-03251-8","article-title":"Good Performance of the Criteria of American College of Medical Genetics and Genomics\/Association for Molecular Pathology in Prediction of Pathogenicity of Genetic Variants Causing Thoracic Aortic Aneurysms and Dissections","volume":"20","author":"Truszkowska","year":"2022","journal-title":"J. Transl. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1002\/ajmg.a.38590","article-title":"Three-Generation Family with Novel Contiguous Gene Deletion on Chromosome 2p22 Associated with Thoracic Aortic Aneurysm Syndrome","volume":"176","author":"VanNoy","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/gim.2014.11","article-title":"Loeys\u2013Dietz Syndrome: A Primer for Diagnosis and Management","volume":"16","author":"MacCarrick","year":"2014","journal-title":"Genet. Med."},{"key":"ref_40","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W., Mirzaa, G.M., and Amemiya, A. (1993). Heritable Thoracic Aortic Disease Overview. GeneReviews\u00ae, University of Washington."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Wooten, E.C., Iyer, L.K., Montefusco, M.C., Hedgepeth, A.K., Payne, D.D., Kapur, N.K., Housman, D.E., Mendelsohn, M.E., and Huggins, G.S. (2010). Application of Gene Network Analysis Techniques Identifies AXIN1\/PDIA2 and Endoglin Haplotypes Associated with Bicuspid Aortic Valve. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0008830"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2382","DOI":"10.1002\/ajmg.a.37162","article-title":"Congenital Contractural Arachnodactyly Complicated with Aortic Dilatation and Dissection: Case Report and Review of Literature","volume":"167","author":"Takeda","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ajhg.2014.11.015","article-title":"MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms","volume":"96","author":"Guo","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_44","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W., Mirzaa, G.M., and Amemiya, A. (1993). Arterial Tortuosity Syndrome. GeneReviews\u00ae, University of Washington."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"121","DOI":"10.3109\/03008209809028905","article-title":"Mechanical Role of Elastin-Associated Microfibrils in Pig Aortic Elastic Tissue","volume":"37","author":"Lillie","year":"1998","journal-title":"Connect. Tissue Res."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Creamer, T.J., Bramel, E.E., and MacFarlane, E.G. (2021). Insights on the Pathogenesis of Aneurysm through the Study of Hereditary Aortopathies. Genes, 12.","DOI":"10.3390\/genes12020183"},{"key":"ref_47","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":"ref_48","first-page":"1","article-title":"Lysyl Oxidases: A Novel Multifunctional Amine Oxidase Family","volume":"Volume 70l","author":"Csiszar","year":"2001","journal-title":"Progress in Nucleic Acid Research and Molecular Biology"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.hlc.2019.12.010","article-title":"Familial Aortopathies\u2014State of the Art Review","volume":"29","author":"Zentner","year":"2020","journal-title":"Heart Lung Circ."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.matbio.2014.02.004","article-title":"Fibulin-4 and Fibulin-5 in Elastogenesis and beyond: Insights from Mouse and Human Studies","volume":"37","author":"Papke","year":"2014","journal-title":"Matrix Biol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.humpath.2007.08.003","article-title":"Collagen Is Reduced and Disrupted in Human Aneurysms and Dissections of Ascending Aorta","volume":"39","author":"Jaldin","year":"2008","journal-title":"Hum. Pathol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"28869","DOI":"10.1074\/jbc.M113.497727","article-title":"Microfibril-Associated Glycoprotein 2 (MAGP2) Loss of Function Has Pleiotropic Effects in Vivo","volume":"288","author":"Combs","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"L1327","DOI":"10.1152\/ajplung.2001.280.6.L1327","article-title":"Proteoglycans Decorin and Biglycan Differentially Modulate TGF-\u03b2-Mediated Fibrotic Responses in the Lung","volume":"280","author":"Kolb","year":"2001","journal-title":"Am. J. Physiol. Lung Cell. Mol. Physiol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1038\/ng.2007.6","article-title":"Mutations in Smooth Muscle \u03b1-Actin (ACTA2) Lead to Thoracic Aortic Aneurysms and Dissections","volume":"39","author":"Guo","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1002\/humu.21081","article-title":"Mutation of ACTA2 Gene as an Important Cause of Familial and Nonfamilial Nonsyndromatic Thoracic Aortic Aneurysm and\/or Dissection (TAAD)","volume":"30","author":"Morisaki","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/hrt.2010.204388","article-title":"Risk of Dissection in Thoracic Aneurysms Associated with Mutations of Smooth Muscle Alpha-Actin 2 (ACTA2)","volume":"97","author":"Disabella","year":"2011","journal-title":"Heart Br. Card. Soc."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"E4168","DOI":"10.1073\/pnas.1507587112","article-title":"Vascular Disease-Causing Mutation R258C in ACTA2 Disrupts Actin Dynamics and Interaction with Myosin","volume":"112","author":"Lu","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.febslet.2010.11.033","article-title":"Filamin A Mediates Interactions between Cytoskeletal Proteins That Control Cell Adhesion","volume":"585","author":"Kim","year":"2011","journal-title":"FEBS Lett."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.jaccas.2021.11.019","article-title":"Heritable FLNA Gene Mutation in a Patient with Thoracic Aortic Aneurysm","volume":"4","author":"Siddiqui","year":"2022","journal-title":"JACC Case Rep."},{"key":"ref_60","first-page":"271","article-title":"The Genetics and Genomics of Thoracic Aortic Disease","volume":"2","author":"Pomianowski","year":"2013","journal-title":"Ann. Cardiothorac. Surg."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e005221","DOI":"10.1161\/JAHA.116.005221","article-title":"Transforming Growth Factor-\u03b2 in Thoracic Aortic Aneurysms: Good, Bad, or Irrelevant?","volume":"6","author":"Daugherty","year":"2017","journal-title":"J. Am. Heart Assoc."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1093\/cvr\/cvy006","article-title":"From Genetics to Response to Injury: Vascular Smooth Muscle Cells in Aneurysms and Dissections of the Ascending Aorta","volume":"114","author":"Michel","year":"2018","journal-title":"Cardiovasc. Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1172\/JCI123547","article-title":"Lineage-Specific Events Underlie Aortic Root Aneurysm Pathogenesis in Loeys-Dietz Syndrome","volume":"129","author":"MacFarlane","year":"2019","journal-title":"J. Clin. Investig."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/nature10145","article-title":"Lessons on the Pathogenesis of Aneurysm from Heritable Conditions","volume":"473","author":"Lindsay","year":"2011","journal-title":"Nature"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/j.ajhg.2018.03.002","article-title":"LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections","volume":"102","author":"Guo","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/humu.23407","article-title":"A Mutation Update on the LDS-Associated Genes TGFB2\/3 and SMAD2\/3","volume":"39","author":"Schepers","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.amjcard.2004.08.098","article-title":"Aortic Dimensions in Patients with Bicuspid Aortic Valve without Significant Valve Dysfunction","volume":"95","author":"Cecconi","year":"2005","journal-title":"Am. J. Cardiol."},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Pepe, G., Nistri, S., Giusti, B., Sticchi, E., Attanasio, M., Porciani, C., Abbate, R., Bonow, R.O., Yacoub, M., and Gensini, G.F. (2014). Identification of Fibrillin 1 Gene Mutations in Patients with Bicuspid Aortic Valve (BAV) without Marfan Syndrome. BMC Med. Genet., 15.","DOI":"10.1186\/1471-2350-15-23"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/j.jtcvs.2003.11.049","article-title":"Matrix Metalloproteinase Activity in Thoracic Aortic Aneurysms Associated with Bicuspid and Tricuspid Aortic Valves","volume":"127","author":"Boyum","year":"2004","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1024\/0301-1526\/a000390","article-title":"Differential Expression of MMP-2, MMP-9 and TIMP Proteins in Thoracic Aortic Aneurysm - Comparison with and without Bicuspid Aortic Valve: A Meta-Analysis","volume":"43","author":"Rabkin","year":"2014","journal-title":"Vasa"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/path.5683","article-title":"Non-Syndromic Thoracic Aortic Aneurysm: Cellular and Molecular Insights","volume":"254","author":"Heredero","year":"2021","journal-title":"J. Pathol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.yexmp.2010.05.006","article-title":"Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 Expression with Media Degeneration Features CaCl2-Induced Thoracic Aortic Aneurysm in a Rat Model","volume":"89","author":"Geng","year":"2010","journal-title":"Exp. Mol. Pathol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/j.athoracsur.2012.10.084","article-title":"ADAMTS-1 and ADAMTS-4 Levels Are Elevated in Thoracic Aortic Aneurysms and Dissections","volume":"95","author":"Ren","year":"2013","journal-title":"Ann. Thorac. Surg."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1510\/icvts.2007.163311","article-title":"Matrix Metalloproteinase Expression in the Ascending Aorta and Aortic Valve","volume":"7","author":"Wilton","year":"2008","journal-title":"Interact. Cardiovasc. Thorac. Surg."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1846","DOI":"10.1161\/CIRCULATIONAHA.117.031264","article-title":"Insights from the International Registry of Acute Aortic Dissection: A 20-Year Experience of Collaborative Clinical Research","volume":"137","author":"Evangelista","year":"2018","journal-title":"Circulation"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1136\/heartjnl-2015-308284","article-title":"Aortic Dissection: Medical, Interventional and Surgical Management","volume":"103","author":"Silaschi","year":"2017","journal-title":"Heart"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1001\/jama.283.7.897","article-title":"The International Registry of Acute Aortic Dissection (IRAD): New Insights into an Old Disease","volume":"283","author":"Hagan","year":"2000","journal-title":"JAMA"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1016\/j.jacc.2021.09.022","article-title":"Acute Aortic Syndrome Revisited: JACC State-of-the-Art Review","volume":"78","author":"Vilacosta","year":"2021","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1097\/TME.0b013e31827145d0","article-title":"Acute Aortic Emergencies\u2014Part 2 Aortic Dissections","volume":"35","author":"White","year":"2013","journal-title":"Adv. Emerg. Nurs. J."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1161\/01.CIR.0000052628.77047.EA","article-title":"Intramural Hematoma of the Aorta: Predictors of Progression to Dissection and Rupture","volume":"107","author":"Koschyk","year":"2003","journal-title":"Circulation"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/s00595-003-2683-3","article-title":"Decreased Tissue Inhibitor of Metalloproteinase-2\/Matrix Metalloproteinase Ratio in the Acute Phase of Aortic Dissection","volume":"34","author":"Manabe","year":"2004","journal-title":"Surg. Today"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"2106","DOI":"10.1016\/j.athoracsur.2004.05.088","article-title":"Increased Tissue Microarray Matrix Metalloproteinase Expression Favors Proteolysis in Thoracic Aortic Aneurysms and Dissections","volume":"78","author":"Koullias","year":"2004","journal-title":"Ann. Thorac. Surg."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1159\/000355253","article-title":"The Multitasking Role of Macrophages in Stanford Type A Acute Aortic Dissection","volume":"127","author":"Tritapepe","year":"2014","journal-title":"Cardiology"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"e001513","DOI":"10.1161\/JAHA.114.001513","article-title":"Risk Profiles for Aortic Dissection and Ruptured or Surgically Treated Aneurysms: A Prospective Cohort Study","volume":"4","author":"Landenhed","year":"2015","journal-title":"J. Am. Heart Assoc."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/0014-5793(94)00531-1","article-title":"Activation of Human Peripheral Monocytes by Angiotensin II","volume":"347","author":"Hahn","year":"1994","journal-title":"FEBS Lett."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1365-2362.2008.02056.x","article-title":"Elevated VEGF-Plasma Levels in Young Patients with Mild Essential Hypertension","volume":"39","author":"Stumpf","year":"2009","journal-title":"Eur. J. Clin. Investig."},{"key":"ref_87","first-page":"227","article-title":"Matrix Metalloproteinase-2, -9, and Tissue Inhibitor of Metalloproteinase-1 in Patients with Hypertension","volume":"13","author":"Derosa","year":"2006","journal-title":"Endothel. J. Endothel. Cell Res."},{"key":"ref_88","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":"ref_89","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1161\/CIRCULATIONAHA.107.702720","article-title":"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)","volume":"116","author":"Pape","year":"2007","journal-title":"Circulation"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0003-4975(01)03236-2","article-title":"Yearly Rupture or Dissection Rates for Thoracic Aortic Aneurysms: Simple Prediction Based on Size","volume":"73","author":"Davies","year":"2002","journal-title":"Ann. Thorac. Surg."},{"key":"ref_91","first-page":"w14489","article-title":"Acute Aortic Dissection: Pathogenesis, Risk Factors and Diagnosis","volume":"147","author":"Gawinecka","year":"2017","journal-title":"Swiss Med. Wkly."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.tcm.2015.12.003","article-title":"Recent Progress in Understanding the Natural and Clinical Histories of the Marfan Syndrome","volume":"26","author":"Pyeritz","year":"2016","journal-title":"Trends Cardiovasc. Med."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1016\/j.jacc.2016.03.570","article-title":"Aortic Dissection in Patients with Genetically Mediated Aneurysms","volume":"67","author":"Weinsaft","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.jacc.2014.10.050","article-title":"The Risk for Type B Aortic Dissection in Marfan Syndrome","volume":"65","author":"Franken","year":"2015","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1016\/j.jacc.2015.05.029","article-title":"Presentation, Diagnosis, and Outcomes of Acute Aortic Dissection: 17-Year Trends from the International Registry of Acute Aortic Dissection","volume":"66","author":"Pape","year":"2015","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_96","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":"Pannu","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"548","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."},{"key":"ref_98","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":"Oldenburg","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"103727","DOI":"10.1016\/j.ejmg.2019.103727","article-title":"Novel Pathogenic TGFBR1 and SMAD3 Variants Identified after Cerebrovascular Events in Adult Patients with Loeys-Dietz Syndrome","volume":"62","author":"Laterza","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.cca.2020.03.029","article-title":"Identification of Clinically Relevant Variants by Whole Exome Sequencing in Chinese Patients with Sporadic Non-Syndromic Type A Aortic Dissection","volume":"506","author":"Zhao","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1136\/jmedgenet-2018-105583","article-title":"SMAD3 Pathogenic Variants: Risk for Thoracic Aortic Disease and Associated Complications from the Montalcino Aortic Consortium","volume":"56","author":"Hostetler","year":"2019","journal-title":"J. Med. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1111\/j.1399-0004.2012.01931.x","article-title":"An Unanticipated Copy Number Variant of Chromosome 15 Disrupting SMAD3 Reveals a Three-Generation Family at Serious Risk for Aortic Dissection","volume":"83","author":"Scholte","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1007\/s00380-007-1027-4","article-title":"A Novel COL3A1 Gene Mutation in Patient with Aortic Dissected Aneurysm and Cervical Artery Dissections","volume":"23","author":"Lee","year":"2008","journal-title":"Heart Vessels"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1536\/ihj.17-451","article-title":"Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing","volume":"59","author":"Koitabashi","year":"2018","journal-title":"Int. Heart J."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.ejmg.2015.10.009","article-title":"Cervical Artery Dissections and Type A Aortic Dissection in a Family with a Novel Missense COL3A1 Mutation of Vascular Type Ehlers\u2013Danlos Syndrome","volume":"58","author":"Makrygiannis","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.jjcc.2008.09.007","article-title":"Vascular Ehlers-Danlos Syndrome","volume":"53","author":"Nakamura","year":"2009","journal-title":"J. Cardiol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1111\/j.1556-4029.2010.01521.x","article-title":"Sudden and Unexpected Death in Three Cases of Ehlers-Danlos Syndrome Type IV*: SUDDEN DEATH IN EHLERS-DANLOS TYPE IV","volume":"55","author":"Shields","year":"2010","journal-title":"J. Forensic Sci."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1086\/301641","article-title":"Splicing Defects in the COL3A1 Gene: Marked Preference for 5\u2032 (Donor) Spice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV","volume":"61","author":"Schwarze","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"3441","DOI":"10.2169\/internalmedicine.2983-19","article-title":"Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation","volume":"58","author":"Sakai","year":"2019","journal-title":"Intern. Med. Tokyo Jpn."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.jvs.2014.01.070","article-title":"Molecular Diagnosis in Vascular Ehlers-Danlos Syndrome Predicts Pattern of Arterial Involvement and Outcomes","volume":"60","author":"Shalhub","year":"2014","journal-title":"J. Vasc. Surg."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1038\/ejhg.2010.105","article-title":"Hemizygous Deletion of COL3A1, COL5A2, and MSTN Causes a Complex Phenotype with Aortic Dissection: A Lesson for and from True Haploinsufficiency","volume":"18","author":"Meienberg","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_112","first-page":"7857043","article-title":"99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population","volume":"2020","author":"Wang","year":"2020","journal-title":"BioMed Res. Int."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1007\/s11684-020-0826-1","article-title":"Identification of COL3A1 Variants Associated with Sporadic Thoracic Aortic Dissection: A Case-Control Study","volume":"15","author":"Chen","year":"2021","journal-title":"Front. Med."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1038\/ejhg.2015.32","article-title":"The Type of Variants at the COL3A1 Gene Associates with the Phenotype and Severity of Vascular Ehlers\u2013Danlos Syndrome","volume":"23","author":"Frank","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_115","first-page":"881","article-title":"Survival Is Affected by Mutation Type and Molecular Mechanism in Vascular Ehlers-Danlos Syndrome (EDS Type IV)","volume":"16","author":"Pepin","year":"2014","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_116","first-page":"916","article-title":"The Genetic Basis for Aortic Aneurysmal Disease","volume":"100","author":"Saratzis","year":"2014","journal-title":"Heart Br. Card. Soc."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.ajhg.2013.06.019","article-title":"Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections","volume":"93","author":"Guo","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s11748-017-0831-8","article-title":"Guidelines for the Management of Thoracic Aortic Disease in 2017","volume":"67","author":"Mokashi","year":"2019","journal-title":"Gen. Thorac. Cardiovasc. Surg."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.cpcardiol.2008.01.004","article-title":"Thoracic Aortic Aneurysm: Reading the Enemy\u2019s Playbook","volume":"33","author":"Elefteriades","year":"2008","journal-title":"Curr. Probl. Cardiol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1161\/CIRCULATIONAHA.110.988568","article-title":"Sensitivity of the Aortic Dissection Detection Risk Score, a Novel Guideline-Based Tool for Identification of Acute Aortic Dissection at Initial Presentation: Results from the International Registry of Acute Aortic Dissection","volume":"123","author":"Rogers","year":"2011","journal-title":"Circulation"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"931","DOI":"10.2217\/bmm.14.38","article-title":"Biomarkers for Diagnosis and Prognostic Stratification of Aortic Dissection: Challenges and Perspectives","volume":"8","author":"Morello","year":"2014","journal-title":"Biomark. Med."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1177\/2048872614527010","article-title":"Diagnostic Performance of the Aortic Dissection Detection Risk Score in Patients with Suspected Acute Aortic Dissection","volume":"3","author":"Nazerian","year":"2014","journal-title":"Eur. Heart J. Acute Cardiovasc. Care"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1093\/eurheartj\/ehn310","article-title":"Guidelines on the Diagnosis and Management of Acute Pulmonary Embolism: The Task Force for the Diagnosis and Management of Acute Pulmonary Embolism of the European Society of Cardiology (ESC)","volume":"29","author":"Torbicki","year":"2008","journal-title":"Eur. Heart J."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1378\/chest.123.5.1375","article-title":"D-Dimer in Acute Aortic Dissection","volume":"123","author":"Weber","year":"2003","journal-title":"Chest"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1016\/j.jacc.2004.04.053","article-title":"Value of Plasma Fibrin D-Dimers for Detection of Acute Aortic Dissection","volume":"44","author":"Eggebrecht","year":"2004","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"2702","DOI":"10.1161\/CIRCULATIONAHA.108.833004","article-title":"Diagnosis of Acute Aortic Dissection by D-Dimer: The International Registry of Acute Aortic Dissection Substudy on Biomarkers (IRAD-Bio) Experience","volume":"119","author":"Suzuki","year":"2009","journal-title":"Circulation"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1016\/j.amjcard.2010.12.027","article-title":"Meta-Analysis of Usefulness of d-Dimer to Diagnose Acute Aortic Dissection","volume":"107","author":"Shimony","year":"2011","journal-title":"Am. J. Cardiol."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.annemergmed.2011.04.016","article-title":"Evidence-Based Emergency Medicine. Can a Negative D-Dimer Result Rule out Acute Aortic Dissection?","volume":"58","author":"Brown","year":"2011","journal-title":"Ann. Emerg. Med."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jtcvs.2006.07.036","article-title":"Matrix Metalloproteinase and Tissue Inhibitor Expression in Atherosclerotic and Nonatherosclerotic Thoracic Aortic Aneurysms","volume":"133","author":"Schmoker","year":"2007","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.jvs.2005.10.013","article-title":"A Biologic Basis for Asymmetric Growth in Descending Thoracic Aortic Aneurysms: A Role for Matrix Metalloproteinase 9 and 2","volume":"43","author":"Sinha","year":"2006","journal-title":"J. Vasc. Surg."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"R33","DOI":"10.1186\/cc12536","article-title":"Rule out of Acute Aortic Dissection with Plasma Matrix Metalloproteinase 8 in the Emergency Department","volume":"17","author":"Giachino","year":"2013","journal-title":"Crit. Care"},{"key":"ref_132","doi-asserted-by":"crossref","unstructured":"Li, T., Jiang, B., Li, X., Sun, H., Li, X., Jing, J., and Yang, J. (2018). Serum Matrix Metalloproteinase-9 Is a Valuable Biomarker for Identification of Abdominal and Thoracic Aortic Aneurysm: A Case-Control Study. BMC Cardiovasc. Disord., 18.","DOI":"10.1186\/s12872-018-0931-0"},{"key":"ref_133","doi-asserted-by":"crossref","unstructured":"Song, Y., Xie, Y., Liu, F., Zhao, C., Yu, R., Ban, S., Ye, Q., Wen, J., Wan, H., and Li, X. (2013). Expression of Matrix Metalloproteinase-12 in Aortic Dissection. BMC Cardiovasc. Disord., 13.","DOI":"10.1186\/1471-2261-13-34"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.pcad.2013.05.004","article-title":"Biomarkers in TAA-the Holy Grail","volume":"56","author":"Tolenaar","year":"2013","journal-title":"Prog. Cardiovasc. Dis."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1053\/ejvs.2001.1303","article-title":"The Relationship Between Abdominal Aortic Aneurysm Distensibility and Serum Markers of Elastin and Collagen Metabolism","volume":"21","author":"Wilson","year":"2001","journal-title":"Eur. J. Vasc. Endovasc. Surg."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1161\/01.ATV.0000085016.02363.80","article-title":"Soluble Elastin Fragments in Serum Are Elevated in Acute Aortic Dissection","volume":"23","author":"Shinohara","year":"2003","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"573","DOI":"10.5935\/1678-9741.20110047","article-title":"Elevated Plasma D-Dimer and Hypersensitive C-Reactive Protein Levels May Indicate Aortic Disorders","volume":"26","author":"Yuan","year":"2011","journal-title":"Rev. Bras. Cir. Cardiovasc. Orgao Off. Soc. Bras. Cir. Cardiovasc."},{"key":"ref_138","first-page":"1192","article-title":"Value of D-Dimer and C Reactive Protein in Predicting Inhospital Death in Acute Aortic Dissection","volume":"99","author":"Wen","year":"2013","journal-title":"Heart Br. Card. Soc."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.cca.2011.09.029","article-title":"Plasma Concentrations of Interleukin-6, C-Reactive Protein, Tumor Necrosis Factor-\u03b1 and Matrix Metalloproteinase-9 in Aortic Dissection","volume":"413","author":"Wen","year":"2012","journal-title":"Clin. Chim. Acta Int. J. Clin. Chem."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"E488","DOI":"10.1532\/hsf.3055","article-title":"C-Reactive Protein and Neutrophil to Lymphocyte Ratio Values in Predicting Inhospital Death in Patients with Stanford Type A Acute Aortic Dissection","volume":"23","author":"Erdolu","year":"2020","journal-title":"Heart Surg. Forum"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.ijcard.2012.09.127","article-title":"High Homocysteine and Low Folate Concentrations in Acute Aortic Dissection","volume":"168","author":"Sbarouni","year":"2013","journal-title":"Int. J. Cardiol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.3945\/jn.117.251173","article-title":"Moderately Elevated Homocysteine Does Not Contribute to Thoracic Aortic Aneurysm in Mice","volume":"147","author":"Roohi","year":"2017","journal-title":"J. Nutr."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"2038","DOI":"10.1016\/j.ehj.2003.08.020","article-title":"Phenotypic Variability of Cardiovascular Manifestations in Marfan Syndrome. Possible Role of Hyperhomocysteinemia and C677T MTHFR Gene Polymorphism","volume":"24","author":"Giusti","year":"2003","journal-title":"Eur. Heart J."},{"key":"ref_144","first-page":"945","article-title":"Role of Hyperhomocysteinemia in Aortic Disease","volume":"50","author":"Giusti","year":"2004","journal-title":"Cell. Mol. Biol. Noisy Gd. Fr."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1056\/NEJMoa055695","article-title":"Aneurysm Syndromes Caused by Mutations in the TGF-Beta Receptor","volume":"355","author":"Loeys","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1161\/CIRCULATIONAHA.109.883629","article-title":"Transforming Growth Factor-\u03b2: A Biomarker in Marfan Syndrome?","volume":"120","author":"Braverman","year":"2009","journal-title":"Circulation"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1186\/s13023-021-01882-6","article-title":"Potential Predictors of Severe Cardiovascular Involvement in Marfan Syndrome: The Emphasized Role of Genotype\u2013Phenotype Correlations in Improving Risk Stratification\u2014A Literature Review","volume":"16","author":"Stengl","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.jtcvs.2007.08.047","article-title":"Recent Advances in Understanding Marfan Syndrome: Should We Now Treat Surgical Patients with Losartan?","volume":"135","author":"Matt","year":"2008","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1016\/j.ijcard.2013.03.033","article-title":"Circulating Transforming Growth Factor-\u03b2 as a Prognostic Biomarker in Marfan Syndrome","volume":"168","author":"Franken","year":"2013","journal-title":"Int. J. Cardiol."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1536\/ihj.54.23","article-title":"Circulating Transforming Growth Factor \u03b2-1 Level in Japanese Patients with Marfan Syndrome","volume":"54","author":"Ogawa","year":"2013","journal-title":"Int. Heart. J."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.recesp.2011.02.009","article-title":"Valoraci\u00f3n de la eficacia y la seguridad del losart\u00e1n frente al atenolol en la prevenci\u00f3n de la dilataci\u00f3n de la aorta en el s\u00edndrome de Marfan","volume":"64","author":"Forteza","year":"2011","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.jacc.2010.01.079","article-title":"Circulating Transforming Growth Factor-Beta Levels in Acute Aortic Dissection","volume":"58","author":"Suzuki","year":"2011","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"597","DOI":"10.21470\/1678-9741-2018-0129","article-title":"Expressions of Transforming Growth Factor \u03921 Signaling Cytokines in Aortic Dissection","volume":"33","author":"Yuan","year":"2018","journal-title":"Braz. J. Cardiovasc. Surg."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1161\/ATVBAHA.117.310031","article-title":"Further Evidence Supporting a Protective Role of Transforming Growth Factor-\u03b2 (TGF\u03b2) in Aortic Aneurysm and Dissection","volume":"37","author":"Tellides","year":"2017","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/s41439-019-0038-x","article-title":"Activation of TGF-\u03b2 Signaling in an Aortic Aneurysm in a Patient with Loeys-Dietz Syndrome Caused by a Novel Loss-of-Function Variant of TGFBR1","volume":"6","author":"Hara","year":"2019","journal-title":"Hum. Genome Var."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"110543","DOI":"10.1016\/j.jbiomech.2021.110543","article-title":"Mechanics of Ascending Aortas from TGF\u03b2-1, -2, -3 Haploinsufficient Mice and Elastase-Induced Aortopathy","volume":"125","author":"Lane","year":"2021","journal-title":"J. Biomech."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1002\/clc.22320","article-title":"Total Serum Transforming Growth Factor-\u03921 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes: TGF-\u03921 Serum Levels in GAS","volume":"37","author":"Hillebrand","year":"2014","journal-title":"Clin. Cardiol."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/S0140-6736(95)90194-9","article-title":"Diagnosis of Aortic Dissection by Immunoassay for Circulating Smooth Muscle Myosin","volume":"345","author":"Katoh","year":"1995","journal-title":"Lancet"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1161\/01.CIR.93.6.1244","article-title":"Novel Biochemical Diagnostic Method for Aortic Dissection: Results of a Prospective Study Using an Immunoassay of Smooth Muscle Myosin Heavy Chain","volume":"93","author":"Suzuki","year":"1996","journal-title":"Circulation"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"537","DOI":"10.7326\/0003-4819-133-7-200010030-00013","article-title":"Diagnostic Implications of Elevated Levels of Smooth-Muscle Myosin Heavy-Chain Protein in Acute Aortic Dissection. The Smooth Muscle Myosin Heavy Chain Study","volume":"133","author":"Suzuki","year":"2000","journal-title":"Ann. Intern. Med."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"2184","DOI":"10.1001\/archinte.1988.00380100064014","article-title":"Elevated Serum Creatine Kinase Levels. An Early Diagnostic Sign of Acute Dissection of the Aorta","volume":"148","author":"Davidson","year":"1988","journal-title":"Arch. Intern. Med."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/S0140-6736(05)62569-X","article-title":"Biochemical Diagnosis of Aortic Dissection by Raised Concentrations of Creatine Kinase BB-Isozyme","volume":"350","author":"Suzuki","year":"1997","journal-title":"Lancet"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1093\/eurheartj\/ehn162","article-title":"Preliminary Experience with the Smooth Muscle Troponin-like Protein, Calponin, as a Novel Biomarker for Diagnosing Acute Aortic Dissection","volume":"29","author":"Suzuki","year":"2008","journal-title":"Eur. Heart J."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.hrtlng.2015.01.006","article-title":"Potential Biomarkers for Early Diagnosis of Acute Aortic Dissection","volume":"44","author":"Peng","year":"2015","journal-title":"Heart Lung J. Crit. Care"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/s13019-015-0351-5","article-title":"Relationship between the Extent of Dissection and Platelet Activation in Acute Aortic Dissection","volume":"10","author":"Zhang","year":"2015","journal-title":"J. Cardiothorac. Surg."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"4349","DOI":"10.1016\/j.ijcard.2013.05.074","article-title":"Significant Changes in Platelet Count, Volume and Size in Acute Aortic Dissection","volume":"168","author":"Sbarouni","year":"2013","journal-title":"Int. J. Cardiol."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"e484","DOI":"10.1016\/j.ijcard.2014.01.001","article-title":"Low Admission Platelet Counts Predicts Increased Risk of In-Hospital Mortality in Patients with Type A Acute Aortic Dissection","volume":"172","author":"Huang","year":"2014","journal-title":"Int. J. Cardiol."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"10371","DOI":"10.1038\/s41598-021-89653-y","article-title":"Aggrecan: A New Biomarker for Acute Type A Aortic Dissection","volume":"11","author":"Lahm","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.acvd.2015.09.007","article-title":"High-Sensitivity Cardiac Troponin T: A Biomarker for the Early Risk Stratification of Type-A Acute Aortic Dissection?","volume":"109","author":"Li","year":"2016","journal-title":"Arch. Cardiovasc. Dis."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s10557-019-06924-7","article-title":"Increased Circulating Angiopoietin-Like Protein 8 Levels Are Associated with Thoracic Aortic Dissection and Higher Inflammatory Conditions","volume":"34","author":"Yang","year":"2020","journal-title":"Cardiovasc. Drugs Ther."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/ajmg.c.31759","article-title":"The Genetic Workup for Structural Congenital Heart Disease","volume":"184","author":"Jerves","year":"2020","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1097\/MOP.0000000000000836","article-title":"Genetics of Syndromic and Nonsyndromic Aortopathies","volume":"31","author":"Rigelsky","year":"2019","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_173","doi-asserted-by":"crossref","unstructured":"SEC Working Group for ESC 2014 Guidelines on Diagnosis and Treatment of Aortic Diseases, Expert Reviewers for ESC 2014 Guidelines on Diagnosis and Treatment of Aortic Diseases, and SEC Clinical Practice Guidelines Committee (2015). Comments on the 2014 ESC Guidelines on the Diagnosis and Treatment of Aortic Diseases. Rev. Esp. Cardiol. Engl. Ed., 68, 179\u2013184.","DOI":"10.1016\/j.rec.2014.12.003"},{"key":"ref_174","doi-asserted-by":"crossref","unstructured":"Writing Group Members, Hiratzka, L.F., Bakris, G.L., Beckman, J.A., Bersin, R.M., Carr, V.F., Casey, D.E., Eagle, K.A., Hermann, L.K., and Isselbacher, E.M. (2010). 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. Circulation, 121, e266\u2013e369.","DOI":"10.1161\/CIR.0b013e3181d4739e"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"2728","DOI":"10.1016\/j.jacc.2017.09.1094","article-title":"Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection","volume":"70","author":"Guo","year":"2017","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.jvs.2017.12.023","article-title":"Testing Patterns for Genetically Triggered Aortic and Arterial Aneurysms and Dissections at an Academic Center","volume":"68","author":"Hicks","year":"2018","journal-title":"J. Vasc. Surg."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.forsciint.2009.01.020","article-title":"The Genetic Message of a Sudden, Unexpected Death Due to Thoracic Aortic Dissection","volume":"187","author":"Ripperger","year":"2009","journal-title":"Forensic Sci. Int."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"001","DOI":"10.1055\/s-0038-1639610","article-title":"Epigenetics in Ascending Thoracic Aortic Aneurysm and Dissection","volume":"06","author":"Boileau","year":"2018","journal-title":"AORTA"},{"key":"ref_179","doi-asserted-by":"crossref","unstructured":"Wang, Y., Barbacioru, C.C., Shiffman, D., Balasubramanian, S., Iakoubova, O., Tranquilli, M., Albornoz, G., Blake, J., Mehmet, N.N., and Ngadimo, D. (2007). Gene Expression Signature in Peripheral Blood Detects Thoracic Aortic Aneurysm. PLoS ONE, 2.","DOI":"10.1371\/journal.pone.0001050"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1161\/CIRCRESAHA.111.255737","article-title":"MicroRNA-29 in Aortic Dilation: Implications for Aneurysm Formation","volume":"109","author":"Boon","year":"2011","journal-title":"Circ. Res."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1161\/CIRCRESAHA.111.253740","article-title":"MiR-29b Participates in Early Aneurysm Development in Marfan Syndrome","volume":"110","author":"Merk","year":"2012","journal-title":"Circ. Res."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1161\/CIRCRESAHA.110.227496","article-title":"The Art of MicroRNA Research","volume":"108","year":"2011","journal-title":"Circ. Res."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1038\/cdd.2009.153","article-title":"The Knockout of MiR-143 and -145 Alters Smooth Muscle Cell Maintenance and Vascular Homeostasis in Mice: Correlates with Human Disease","volume":"16","author":"Elia","year":"2009","journal-title":"Cell Death Differ."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1161\/CIRCRESAHA.109.197517","article-title":"MicroRNA-145, a Novel Smooth Muscle Cell Phenotypic Marker and Modulator, Controls Vascular Neointimal Lesion Formation","volume":"105","author":"Cheng","year":"2009","journal-title":"Circ. Res."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1161\/CIRCGENETICS.111.960419","article-title":"Selective MicroRNA Suppression in Human Thoracic Aneurysms: Relationship of MiR-29a to Aortic Size and Proteolytic Induction","volume":"4","author":"Jones","year":"2011","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_186","doi-asserted-by":"crossref","unstructured":"Venkatesh, P., Phillippi, J., Chukkapalli, S., Rivera-Kweh, M., Velsko, I., Gleason, T., VanRyzin, P., Aalaei-Andabili, S., Ghanta, R., and Beaver, T. (2017). Aneurysm-Specific MiR-221 and MiR-146a Participates in Human Thoracic and Abdominal Aortic Aneurysms. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18040875"},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"51","DOI":"10.2478\/v10034-012-0019-6","article-title":"A Preliminary MicroRNA Analysis of Non Syndromic Thoracic Aortic Aneurysms","volume":"15","author":"Patuzzo","year":"2012","journal-title":"Balk. J. Med. Genet."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ejvs.2014.10.018","article-title":"Overexpression of MicroRNA-145 Promotes Ascending Aortic Aneurysm Media Remodeling through TGF-\u03921","volume":"49","author":"Pei","year":"2015","journal-title":"Eur. J. Vasc. Endovasc. Surg. Off. J. Eur. Soc. Vasc. Surg."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1016\/j.jvs.2010.11.113","article-title":"A MicroRNA Profile Comparison between Thoracic Aortic Dissection and Normal Thoracic Aorta Indicates the Potential Role of MicroRNAs in Contributing to Thoracic Aortic Dissection Pathogenesis","volume":"53","author":"Liao","year":"2011","journal-title":"J. Vasc. Surg."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1089\/scd.2010.0283","article-title":"MicroRNA-1 Regulates Smooth Muscle Cell Differentiation by Repressing Kruppel-Like Factor 4","volume":"20","author":"Xie","year":"2011","journal-title":"Stem Cells Dev."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1161\/CIRCRESAHA.111.240150","article-title":"MicroRNA-133 Controls Vascular Smooth Muscle Cell Phenotypic Switch in Vitro and Vascular Remodeling In Vivo","volume":"109","author":"Torella","year":"2011","journal-title":"Circ. Res."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/cvr\/cvt082","article-title":"MicroRNA-638 Is Highly Expressed in Human Vascular Smooth Muscle Cells and Inhibits PDGF-BB-Induced Cell Proliferation and Migration through Targeting Orphan Nuclear Receptor NOR1","volume":"99","author":"Li","year":"2013","journal-title":"Cardiovasc. Res."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1093\/cvr\/cvt045","article-title":"MiR-424\/322 Regulates Vascular Smooth Muscle Cell Phenotype and Neointimal Formation in the Rat","volume":"98","author":"Merlet","year":"2013","journal-title":"Cardiovasc. Res."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1093\/cvr\/cvs223","article-title":"MicroRNA-195 Regulates Vascular Smooth Muscle Cell Phenotype and Prevents Neointimal Formation","volume":"95","author":"Wang","year":"2012","journal-title":"Cardiovasc. Res."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.yjmcc.2011.11.008","article-title":"Cell-Specific Effects of MiR-221\/222 in Vessels: Molecular Mechanism and Therapeutic Application","volume":"52","author":"Liu","year":"2012","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1002\/jcp.22422","article-title":"MicroRNA-26a Is a Novel Regulator of Vascular Smooth Muscle Cell Function","volume":"226","author":"Leeper","year":"2011","journal-title":"J. Cell. Physiol."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"407","DOI":"10.3892\/mmr.2013.1538","article-title":"MiRNA-146a Regulates the Maturation and Differentiation of Vascular Smooth Muscle Cells by Targeting NF-\u039aB Expression","volume":"8","author":"Dong","year":"2013","journal-title":"Mol. Med. Rep."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.3892\/ijmm.2015.2181","article-title":"MicroRNA-155 Modulates the Proliferation of Vascular Smooth Muscle Cells by Targeting Endothelial Nitric Oxide Synthase","volume":"35","author":"Zhang","year":"2015","journal-title":"Int. J. Mol. Med."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"42371","DOI":"10.1074\/jbc.M111.261065","article-title":"MicroRNA-31 Regulated by the Extracellular Regulated Kinase Is Involved in Vascular Smooth Muscle Cell Growth via Large Tumor Suppressor Homolog 2","volume":"286","author":"Liu","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_200","first-page":"10375","article-title":"MicroRNA 181b Promotes Vascular Smooth Muscle Cells Proliferation through Activation of PI3K and MAPK Pathways","volume":"8","author":"Li","year":"2015","journal-title":"Int. J. Clin. Exp. Pathol."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1161\/CIRCRESAHA.106.141986","article-title":"MicroRNA Expression Signature and Antisense-Mediated Depletion Reveal an Essential Role of MicroRNA in Vascular Neointimal Lesion Formation","volume":"100","author":"Ji","year":"2007","journal-title":"Circ. Res."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.gene.2016.04.027","article-title":"MicroRNA-24 Inhibits High Glucose-Induced Vascular Smooth Muscle Cell Proliferation and Migration by Targeting HMGB1","volume":"586","author":"Yang","year":"2016","journal-title":"Gene"},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1080\/1354750X.2018.1423704","article-title":"MicroRNAs as Possible Biomarkers for Screening of Aortic Aneurysms: A Systematic Review and Validation Study","volume":"23","author":"Moushi","year":"2018","journal-title":"Biomarkers"},{"key":"ref_204","doi-asserted-by":"crossref","unstructured":"D\u2019Amico, F., Doldo, E., Pisano, C., Scioli, M.G., Centofanti, F., Proietti, G., Falconi, M., Sangiuolo, F., Ferlosio, A., and Ruvolo, G. (2020). Specific MiRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan Syndrome. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21186886"},{"key":"ref_205","first-page":"8521899","article-title":"Long Noncoding RNAs CARMN, LUCAT1, SMILR, and MALAT1 in Thoracic Aortic Aneurysm: Validation of Biomarkers in Clinical Samples","volume":"2020","author":"Benetis","year":"2020","journal-title":"Dis. Markers"},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1159\/000488834","article-title":"LncRNA Expression Profile of Human Thoracic Aortic Dissection by High-Throughput Sequencing","volume":"46","author":"Sun","year":"2018","journal-title":"Cell. Physiol. Biochem."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"BSR20194040","DOI":"10.1042\/BSR20194040","article-title":"LncRNA Sox2ot Modulates the Progression of Thoracic Aortic Aneurysm by Regulating MiR-330-5p\/Myh11","volume":"40","author":"Xiao","year":"2020","journal-title":"Biosci. Rep."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1097\/FJC.0000000000000907","article-title":"CDKN2B-AS1 Aggravates the Pathogenesis of Human Thoracic Aortic Dissection by Sponge to MiR-320d","volume":"76","author":"Zhao","year":"2020","journal-title":"J. Cardiovasc. Pharmacol."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"111163","DOI":"10.1016\/j.biopha.2020.111163","article-title":"LncRNA Xist Induces Arterial Smooth Muscle Cell Apoptosis in Thoracic Aortic Aneurysm through MiR-29b-3p\/Eln Pathway","volume":"137","author":"Liang","year":"2021","journal-title":"Biomed. Pharmacother."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"BSR20202298","DOI":"10.1042\/BSR20202298","article-title":"LncRNA H19 Regulates Smooth Muscle Cell Functions and Participates in the Development of Aortic Dissection through Sponging MiR-193b-3p","volume":"41","author":"Ren","year":"2021","journal-title":"Biosci. Rep."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"119199","DOI":"10.1016\/j.lfs.2021.119199","article-title":"Lnc-OIP5-AS1 Exacerbates Aorta Wall Injury during the Development of Aortic Dissection through Upregulating TUB via Sponging MiR-143-3p","volume":"271","author":"Wang","year":"2021","journal-title":"Life Sci."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1161\/CIRCRESAHA.115.306319","article-title":"Identification and Characterization of Hypoxia-Regulated Endothelial Circular RNA","volume":"117","author":"Boeckel","year":"2015","journal-title":"Circ. Res."},{"key":"ref_213","doi-asserted-by":"crossref","unstructured":"Tian, C., Tang, X., Zhu, X., Zhou, Q., Guo, Y., Zhao, R., Wang, D., and Gong, B. (2019). Expression Profiles of CircRNAs and the Potential Diagnostic Value of Serum CircMARK3 in Human Acute Stanford Type A Aortic Dissection. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0219013"},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"11622","DOI":"10.1111\/jcmm.15802","article-title":"Non-Coding RNAs in Aortic Dissection: From Biomarkers to Therapeutic Targets","volume":"24","author":"Cheng","year":"2020","journal-title":"J. Cell. Mol. Med."},{"key":"ref_215","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":"Valenzuela","year":"2014","journal-title":"Clin. Chim. Acta"},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.tcm.2013.06.004","article-title":"Successes and Challenges of Using Whole Exome Sequencing to Identify Novel Genes Underlying an Inherited Predisposition for Thoracic Aortic Aneurysms and Acute Aortic Dissections","volume":"24","author":"Milewicz","year":"2014","journal-title":"Trends Cardiovasc. Med."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"6620","DOI":"10.3892\/mmr.2017.7410","article-title":"Whole Exome Sequencing Identifies FBN1 Mutations in Two Patients with Early-onset Type B Aortic Dissection","volume":"16","author":"Han","year":"2017","journal-title":"Mol. Med. Rep."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1111\/cge.12702","article-title":"Pathogenic FBN1 Variants in Familial Thoracic Aortic Aneurysms and Dissections","volume":"89","author":"Regalado","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1016\/j.athoracsur.2015.04.106","article-title":"Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting","volume":"100","author":"Ziganshin","year":"2015","journal-title":"Ann. Thorac. Surg."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s12265-017-9753-1","article-title":"Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity","volume":"10","author":"Landis","year":"2017","journal-title":"J Cardiovasc. Transl. Res."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1161\/CIRCRESAHA.120.317361","article-title":"Variants of Focal Adhesion Scaffold Genes Cause Thoracic Aortic Aneurysm","volume":"128","author":"Li","year":"2021","journal-title":"Circ. Res."},{"key":"ref_222","first-page":"4281","article-title":"Analysis of the Contribution of 129 Candidate Genes to Thoracic Aortic Aneurysm or Dissection of a Mixed Cohort of Sporadic and Familial Cases in South China","volume":"13","author":"Li","year":"2021","journal-title":"Am. J. Transl. Res."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1002\/mgg3.371","article-title":"Familial Aortic Disease and a Large Duplication in Chromosome 16p13.1","volume":"6","author":"Erhart","year":"2018","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1007\/s00380-020-01710-0","article-title":"Recurrent Germline Mutations as Genetic Markers for Aortic Root Dilatation in Bicuspid Aortic Valve Patients","volume":"36","author":"Wu","year":"2021","journal-title":"Heart Vessels"},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1002\/humu.23565","article-title":"Results of Next-Generation Sequencing Gene Panel Diagnostics Including Copy-Number Variation Analysis in 810 Patients Suspected of Heritable Thoracic Aortic Disorders","volume":"39","author":"Overwater","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1161\/CIRCRESAHA.118.313181","article-title":"Cell-Specific Functions of ADAM17 Regulate the Progression of Thoracic Aortic Aneurysm","volume":"123","author":"Shen","year":"2018","journal-title":"Circ. Res."},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"166303","DOI":"10.1016\/j.bbadis.2021.166303","article-title":"Excessive DNA Damage Mediates ECM Degradation via the RBBP8\/NOTCH1 Pathway in Sporadic Aortic Dissection","volume":"1868","author":"Zhou","year":"2022","journal-title":"Biochim. Biophys. Acta BBA Mol. Basis Dis."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"e001442","DOI":"10.1161\/CIRCGENETICS.116.001442","article-title":"Genetic Insurance Discrimination in Sudden Arrhythmia Death Syndromes: Empirical Evidence from a Cross-Sectional Survey in North America","volume":"10","author":"Mohammed","year":"2017","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.ajem.2021.10.016","article-title":"Management of Acute Aortic Syndromes from Initial Presentation to Definitive Treatment","volume":"51","author":"Mehta","year":"2022","journal-title":"Am. J. Emerg. 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