REFERENCES
1. Tanaka Y, Sakata K, Sakurai Y, et al. Prevalence of type A acute aortic dissection in patients with out-of-hospital cardiopulmonary arrest. Am J Cardiol 2016;117:1826-30.
2. Melvinsdottir IH, Lund SH, Agnarsson BA, Sigvaldason K, Gudbjartsson T, Geirsson A. The incidence and mortality of acute thoracic aortic dissection: results from a whole nation study. Eur J Cardiothorac Surg 2016;50:1111-7.
3. Guo MH, Appoo JJ, Saczkowski R, et al. Association of Mortality and acute aortic events with ascending aortic aneurysm: a systematic review and meta-analysis. JAMA Netw Open 2018;1:e181281.
4. Mok SC, Ma WG, Mansour A, et al. Twenty-five year outcomes following composite graft aortic root replacement. J Card Surg 2017;32:99-109.
5. Goldfinger JZ, Halperin JL, Marin ML, Stewart AS, Eagle KA, Fuster V. Thoracic aortic aneurysm and dissection. J Am Coll Cardiol 2014;64:1725-39.
6. Isselbacher EM, Preventza O, Hamilton Black J 3rd, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the american heart association/american college of cardiology joint committee on clinical practice guidelines. Circulation 2022;146:e334-482.
7. Goyal A, Keramati AR, Czarny MJ, Resar JR, Mani A. The genetics of aortopathies in clinical cardiology. Clin Med Insights Cardiol 2017;11:1179546817709787.
8. Vinholo T, Zafar MA, Ziganshin BA, Elefteriades JA. Nonsyndromic thoracic aortic aneurysms and dissections-is screening possible? Semin Thorac Cardiovasc Surg 2019;31:628-34.
9. Albornoz G, Coady MA, Roberts M, et al. Familial thoracic aortic aneurysms and dissections - incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg 2006;82:1400-5.
10. Lovatt S, Wong CW, Schwarz K, et al. Misdiagnosis of aortic dissection: a systematic review of the literature. Am J Emerg Med 2022;53:16-22.
11. Morentin Campillo B, Molina Aguilar P, Monzó Blasco A, et al. Sudden death due to thoracic aortic dissection in young people: a multicenter forensic study. Rev Esp Cardiol 2019;72:553-61.
12. Milewicz DM, Chen H, Park ES, et al. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol 1998;82:474-9.
13. Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg 1997;25:506-11.
14. Coady MA, Davies RR, Roberts M, et al. Familial patterns of thoracic aortic aneurysms. Arch Surg 1999;134:361-7.
15. Milewicz DM, Guo D, Hostetler E, Marin I, Pinard AC, Cecchi AC. Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. J Cardiovasc Surg 2021;62:203-10.
16. Ma WG, Chou AS, Mok SCM, et al. Positive family history of aortic dissection dramatically increases dissection risk in family members. Int J Cardiol 2017;240:132-7.
17. Glotzbach JP, Hanson HA, Tonna JE, et al. Familial associations of prevalence and cause-specific mortality for thoracic aortic disease and bicuspid aortic valve in a large-population database. Circulation 2023;148:637-47.
18. Chou AS, Ma WG, Mok SC, et al. Do familial aortic dissections tend to occur at the same age? Ann Thorac Surg 2017;103:546-50.
19. Januzzi JL, Isselbacher EM, Fattori R, et al. Characterizing the young patient with aortic dissection: results from the international registry of aortic dissection (IRAD). J Am Coll Cardiol 2004;43:665-9.
20. Evangelista A, Isselbacher EM, Bossone E, et al. Insights from the international registry of acute aortic dissection: a 20-year experience of collaborative clinical research. Circulation 2018;137:1846-60.
21. Olsson C, Thelin S, Ståhle E, Ekbom A, Granath F. Thoracic aortic aneurysm and dissection: increasing prevalence and improved outcomes reported in a nationwide population-based study of more than 14,000 cases from 1987 to 2002. Circulation 2006;114:2611-8.
22. Robertson EN, van der Linde D, Sherrah AG, et al. Familial non-syndromal thoracic aortic aneurysms and dissections - incidence and family screening outcomes. Int J Cardiol 2016;220:43-51.
23. Holmes KW, Markwardt S, Eagle KA, et al. Cardiovascular outcomes in aortopathy: GenTAC registry of genetically triggered aortic aneurysms and related conditions. J Am Coll Cardiol 2022;79:2069-81.
24. Sherrah AG, Andvik S, van der Linde D, et al. Nonsyndromic thoracic aortic aneurysm and dissection: outcomes with marfan syndrome versus bicuspid aortic valve aneurysm. J Am Coll Cardiol 2016;67:618-26.
25. Kimura N, Aizawa K, Kawahito K, et al. Outcomes of early-onset acute type a aortic dissection - influence of etiologic factors. Circ J 2019;83:285-94.
26. Borger MA, Fedak PWM, Stephens EH, et al. The American association for thoracic surgery consensus guidelines on bicuspid aortic valve-related aortopathy: full online-only version. J Thorac Cardiovasc Surg 2018;156:e41-74.
27. Tessler I, Goudot G, Albuisson J, et al. Is bicuspid aortic valve morphology genetically determined? A family-based study. Am J Cardiol 2022;163:85-90.
28. Giusti B, Sticchi E, De Cario R, Magi A, Nistri S, Pepe G. Genetic bases of bicuspid aortic valve: the contribution of traditional and high-throughput sequencing approaches on research and diagnosis. Front Physiol 2017;8:612.
29. Habchi KM, Ashikhmina E, Vieira VM, et al. Association between bicuspid aortic valve morphotype and regional dilatation of the aortic root and trunk. Int J Cardiovasc Imaging 2017;33:341-9.
30. Jackson V, Petrini J, Caidahl K, et al. Bicuspid aortic valve leaflet morphology in relation to aortic root morphology: a study of 300 patients undergoing open-heart surgery. Eur J Cardiothorac Surg 2011;40:e118-24.
31. Prakash SK, Bossé Y, Muehlschlegel JD, et al. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol 2014;64:832-9.
32. Yassine NM, Shahram JT, Body SC. Pathogenic mechanisms of bicuspid aortic valve aortopathy. Front Physiol 2017;8:687.
33. Gehlen J, Stundl A, Debiec R, et al. Elucidation of the genetic causes of bicuspid aortic valve disease. Cardiovasc Res 2023;119:857-66.
34. Gould RA, Aziz H, Woods CE, et al. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nat Genet 2019;51:42-50.
35. Verstraeten A, Luyckx I, Loeys B. Aetiology and management of hereditary aortopathy. Nat Rev Cardiol 2017;14:197-208.
36. Brownstein AJ, Kostiuk V, Ziganshin BA, et al. Genes associated with thoracic aortic aneurysm and dissection: 2018 update and clinical implications. Aorta 2018;6:13-20.
37. Wu L. The pathogenesis of thoracic aortic aneurysm from hereditary perspective. Gene 2018;677:77-82.
38. Renard M, Francis C, Ghosh R, et al. Clinical validity of genes for heritable thoracic aortic aneurysm and dissection. J Am Coll Cardiol 2018;72:605-15.
39. Takeda N, Morita H, Fujita D, et al. A deleterious MYH11 mutation causing familial thoracic aortic dissection. Hum Genome Var 2015;2:15028.
40. Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007;39:1488-93.
41. Zhu L, Vranckx R, Khau Van Kien P, et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006;38:343-9.
42. Pannu H, Tran-Fadulu V, Papke CL, et al. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet 2007;16:2453-62.
43. Harakalova M, van der Smagt J, de Kovel CG, et al. Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. Eur J Hum Genet 2013;21:487-93.
44. Wang L, Guo DC, Cao J, et al. Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet 2010;87:701-7.
45. Hannuksela M, Stattin EL, Klar J, et al. A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description. BMC Med Genet 2016;17:61.
46. Guo DC, Regalado E, Casteel DE, et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 2013;93:398-404.
47. Medina-Martinez O, Jamrich M. Foxe view of lens development and disease. Development 2007;134:1455-63.
48. Kuang SQ, Medina-Martinez O, Guo DC, et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 2016;126:948-61.
49. Guo DC, Gong L, Regalado ES, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet 2015;96:170-7.
50. Lee VS, Halabi CM, Hoffman EP, et al. Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. Proc Natl Acad Sci USA 2016;113:8759-64.
51. Guo DC, Regalado ES, Gong L, et al. LOX mutations predispose to thoracic aortic aneurysms and dissections. Circ Res 2016;118:928-34.
52. Barbier M, Gross MS, Aubart M, et al. MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. Am J Hum Genet 2014;95:736-43.
53. Elbitar S, Renard M, Arnaud P, et al. Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm. Genet Med 2021;23:111-22.
54. Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A 2010;152A:413-6.
55. Keramati AR, Sadeghpour A, Farahani MM, Chandok G, Mani A. The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus. BMC Med Genet 2010;11:143.
56. LeMaire SA, McDonald ML, Guo DC, et al. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet 2011;43:996-1000.
57. Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 1996;94:2708-11.
58. Lindsay ME, Schepers D, Bolar NA, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet 2012;44:922-7.
59. Boileau C, Guo DC, Hanna N, et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 2012;44:916-21.
60. Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 2005;112:513-20.
61. Jondeau G, Ropers J, Regalado E, et al. International registry of patients carrying TGFBR1 or TGFBR2 mutations: results of the MAC (montalcino aortic consortium). Circ Cardiovasc Genet 2016;9:548-58.
62. Regalado ES, Guo DC, Villamizar C, et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 2011;109:680-6.
63. Gong J, Zhou D, Jiang L, et al. In vitro lineage-specific differentiation of vascular smooth muscle cells in response to SMAD3 deficiency: implications for SMAD3-Related thoracic aortic aneurysm. Arterioscler Thromb Vasc Biol 2020;40:1651-63.
64. Zhang P, Hou S, Chen J, et al. Smad4 deficiency in smooth muscle cells initiates the formation of aortic aneurysm. Circ Res 2016;118:388-99.
65. Heald B, Rigelsky C, Moran R, et al. Prevalence of thoracic aortopathy in patients with juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia due to SMAD4. Am J Med Genet A 2015;167:1758-62.
66. Teekakirikul P, Milewicz DM, Miller DT, et al. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A 2013;161:185-91.
67. Duan XY, Guo DC, Regalado ES, et al. SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections. Eur J Hum Genet 2019;27:1054-60.
68. Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005;437:270-4.
69. Mohamed SA, Aherrahrou Z, Liptau H, et al. Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. Biochem Biophys Res Commun 2006;345:1460-5.
70. McKellar SH, Tester DJ, Yagubyan M, Majumdar R, Ackerman MJ, Sundt TM 3rd. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg 2007;134:290-6.
71. Boodhwani M, Andelfinger G, Leipsic J, et al. Canadian cardiovascular society position statement on the management of thoracic aortic disease. Can J Cardiol 2014;30:577-89.
72. Erbel R, Aboyans V, Boileau C, et al. 2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The task force for the diagnosis and treatment of aortic diseases of the european society of cardiology (ESC). Eur Heart J 2014;35:2873-926.
73. Verhagen JMA, Kempers M, Cozijnsen L, et al. Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives. Int J Cardiol 2018;258:243-8.
