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However, diameter alone is a poor predictor of risk, with many patients experiencing dissection or rupture below current intervention thresholds. Developing tools that improve the risk assessment of those with aortopathy is internationally regarded as a research priority. A robust understanding of the molecular pathways that lead to aortic wall weakness is required to identify biomarkers and therapeutic targets that could improve patient management. Here, we summarize the current understanding of the genetically determined mechanisms underlying inherited aortopathies and critically appraise the available blood biomarkers, imaging techniques, and therapeutic targets that have shown promise for improving the management of patients with these important and potentially fatal conditions.<\/jats:p>","DOI":"10.1161\/circulationaha.119.043756","type":"journal-article","created":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T14:00:57Z","timestamp":1589205657000},"page":"1570-1587","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":92,"title":["Inherited Thoracic Aortic Disease"],"prefix":"10.1161","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9984-8391","authenticated-orcid":false,"given":"Alexander J.","family":"Fletcher","sequence":"first","affiliation":[{"name":"University of Edinburgh Centre for Cardiovascular Science, Royal Infirmary of Edinburgh, United Kingdom (A.J.F., M.B.J.S., D.E.N., N.L.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maaz B.J.","family":"Syed","sequence":"additional","affiliation":[{"name":"University of Edinburgh Centre for Cardiovascular Science, Royal Infirmary of Edinburgh, United Kingdom (A.J.F., M.B.J.S., D.E.N., N.L.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy J.","family":"Aitman","sequence":"additional","affiliation":[{"name":"Centre for Genomics and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, United Kingdom (T.J.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David E.","family":"Newby","sequence":"additional","affiliation":[{"name":"University of Edinburgh Centre for Cardiovascular Science, Royal Infirmary of Edinburgh, United Kingdom (A.J.F., M.B.J.S., D.E.N., N.L.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niki L.","family":"Walker","sequence":"additional","affiliation":[{"name":"University of Edinburgh Centre for Cardiovascular Science, Royal Infirmary of Edinburgh, United Kingdom (A.J.F., M.B.J.S., D.E.N., N.L.W.)."},{"name":"Scottish Adult Congenital Heart Disease Service, Golden Jubilee National Hospital, Clydebank, Glasgow, United Kingdom (N.L.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2014.01.016"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu281"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0430"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0b013e3181d4739e"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000029"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.118.009302"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1186-2"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2018.02.115"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2014.05.050"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/ejcts\/ezu083"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2018.1281"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2017.10.140"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(89)90430-x"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2014.06.021"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115204"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0021-9290(98)00058-x"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2011.07.058"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2016.03.570"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/ejcts\/ezw235"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0369-8"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.111.054676"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.11.039"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.116.001485"},{"key":"e_1_3_3_26_2","first-page":"209","article-title":"Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.","volume":"26","author":"Nielsen J","year":"1990","unstructured":"Nielsen, J, Wohlert, M. 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