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Sudden death due to aortic pathology

Published online by Cambridge University Press:  13 January 2017

John Papagiannis*
Affiliation:
Division of Cardiology, Children’s Mercy Hospital, Kansas City, Missouri, United States of America
*
Correspondence to: J. Papagiannis, Director of Electrophysiology, Division of Cardiology, Children’s Mercy Hospital, Kansas City, MO 64112, United States of America. Tel: 816 234 3000; E-mail: jpapagiannis@cmh.edu

Abstract

Sudden death from aortic dissection of an ascending aortic aneurysm is an uncommon but important finding in all series of sudden death in young, apparently healthy athletes. Individuals at risk include those having any of a variety of conditions in which structural weakness of the ascending aorta predisposes to pathological dilation under prolonged periods of increased wall stress. These conditions include Marfan syndrome, Loeys–Dietz syndrome, bicuspid aortic valve, and the vascular form of Ehlers–Danlos syndrome. Diagnostic criteria, surveillance strategies, medical management, and surgical indications are discussed. Finally, the current recommendations for sports participation are provided.

Type
Original Articles
Copyright
© Cambridge University Press 2017 

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References

1. Kinoshita, N, Mimura, J, Obayashi, C, Katsukawa, F, Onishi, S, Yamazaki, H. Aortic root dilatation among young competitive athletes: echocardiographic screening of 1929 athletes between 15 and 34 years of age. Am Heart J 2000; 139: 723728.Google Scholar
2. Maron, BJ, Haas, TS, Murphy, CJ, Ahluwalia, A, Rutten-Ramos, S. Incidence and causes of sudden death in U.S. college athletes. J Am Coll Cardiol 2014; 63: 16361643.CrossRefGoogle ScholarPubMed
3. Koullias, G, Modak, R, Tranquilli, M, Korkolis, DP, Barash, P, Elefteriades, JA. Mechanical deterioration underlies malignant behavior of aneurysmal human ascending aorta. J Thorac Cardiovasc Surg 2005; 130: 677683.CrossRefGoogle ScholarPubMed
4. Judge, DP, Dietz, HC. Marfan’s syndrome. Lancet 2005; 366: 19651976.Google Scholar
5. Loeys, BL, Dietz, HC, Braverman, AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476485.CrossRefGoogle ScholarPubMed
6. Dietz, HC, Cutting, GR, Pyeritz, RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337339.CrossRefGoogle ScholarPubMed
7. Kainulainen, K, Pulkkinen, L, Savolainen, A, Kaitila, I, Peltonen, L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 1990; 323: 935939.CrossRefGoogle ScholarPubMed
8. Sakai, LY, Keene, DR, Engvall, E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 1986; 103: 24992509.CrossRefGoogle ScholarPubMed
9. Nollen, GJ, Groenink, M, Tijssen, JG, et al. Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome. Eur Heart J 2004; 25: 11461152.Google Scholar
10. Neptune, ER, Frischmeyer, PA, Arking, DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33: 407411.CrossRefGoogle ScholarPubMed
11. Loeys, BL, Chen, J, Neptune, ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275281.Google Scholar
12. Yetman, AT, Bornemeier, RA, McCrindle, BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol 2003; 41: 329332.Google Scholar
13. Shores, J, Berger, KR, Murphy, EA, Pyeritz, RE. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan’s syndrome. N Engl J Med 1994; 330: 13351341.CrossRefGoogle ScholarPubMed
14. Habashi, JP, Judge, DP, Holm, TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312: 117121.Google Scholar
15. Milleron, O, Arnoult, F, Ropers, J, et al. Marfan Sartan: a randomized, double-blind, placebo-controlled trial. Eur Heart J 2015; 36: 21602166.CrossRefGoogle Scholar
16. Lacro, RV, Dietz, HC, Sleeper, LA, Pediatric Heart Network Investigators. Atenolol versus losartan in children and young adults with Marfan’s syndrome. N Engl J Med 2014; 371: 20612071.Google Scholar
17. Gott, VL, Greene, PS, Alejo, DE, et al. Replacement of the aortic root in patients with Marfan’s syndrome. N Engl J Med 1999; 340: 13071313.Google Scholar
18. Bentall, H, De Bono, A. A technique for complete replacement of the ascending aorta. Thorax 1968; 23: 338339.Google Scholar
19. Price, J, Magruder, JT, Young, A, et al. Long-term outcomes of aortic root operations for Marfan syndrome: a comparison of Bentall versus aortic valve-sparing procedures. J Thorac Cardiovasc Surg 2015; 151: 330336.CrossRefGoogle ScholarPubMed
20. David, TE, David, CM, Manlhiot, C, Colman, J, Crean, AM, Bradley, T. Outcomes of aortic valve-sparing operations in Marfan syndrome. J Am Coll Cardiol 2015; 66: 14451453.CrossRefGoogle ScholarPubMed
21. Loeys, BL, Schwarze, U, Holm, T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006; 355: 788798.Google Scholar
22. van de Laar, IM, Oldenburg, RA, Pals, G, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet 2011; 43: 121126.Google Scholar
23. 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: 680686.CrossRefGoogle ScholarPubMed
24. 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: 922927.Google Scholar
25. 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: 916921.Google Scholar
26. Cleuziou, J, Eichinger, WB, Schreiber, C, Lange, R. Aortic root replacement with re-implantation technique in an infant with Loeys-Dietz syndrome and a bicuspid aortic valve. Pediatr Cardiol 2010; 31: 117119.Google Scholar
27. Patel, ND, Arnaoutakis, GJ, George, TJ, et al. Valve-sparing aortic root replacement in Loeys-Dietz syndrome. Ann Thorac Surg 2011; 92: 556560.Google Scholar
28. MacCarrick, G, Black, JH 3rd, Bowdin, S, et al. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med 2014; 16: 576587.Google Scholar
29. Valverde, I, Simpson, J, Beerbaum, P. Magnetic resonance imaging findings in Loeys-Dietz syndrome. Cardiol Young 2010; 20: 210213.CrossRefGoogle ScholarPubMed
30. Steinman, B, Royce, P, Superti-Furga, M. Ehlers-Danlos Syndrome. In: Royce P, Steinmann B, (eds). Connective Tissue and its Heritable Disorders, 5th edn. Wiley-Liss, New York, 2002: 431523.Google Scholar
31. Brooke, BS, Arnaoutakis, G, McDonnell, NB, Black, JH III. Contemporary management of vascular complications associated with Ehlers-Danlos syndrome. J Vasc Surg 2010; 51: 131139.CrossRefGoogle ScholarPubMed
32. Yetman, AT, Graham, T. The dilated aorta in patients with congenital cardiac defects. J Am Coll Cardiol 2009; 53: 461467.Google Scholar
33. Tzemos, N, Therrien, J, Yip, J, et al. Outcomes in adults with bicuspid aortic valves. JAMA 2008; 300: 13171325.Google Scholar
34. Davies, RR, Kaple, RK, Mandapati, D, et al. Natural history of ascending aortic aneurysm in the setting of an unreplaced bicuspid aortic valve. Ann Thorac Surg 2006; 83: 13381344.CrossRefGoogle Scholar
35. Loscalzo, ML, Goh, DL, Loeys, B, Kent, KC, Spevak, PJ, Dietz, HC. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A 2007; 143A: 19601967.Google Scholar
36. Matura, LA, Ho, VB, Rosing, DR, Bondy, CA. Aortic dilatation and dissection in Turner syndrome. Circulation 2007; 116: 16631670.CrossRefGoogle ScholarPubMed
37. Oliver, JM, Gallego, P, Gonzalez, A, Aroca, A, Bret, M, Mesa, JM. Risk factors for aortic complications in adults with coarctation. J Am Coll Cardiol 2004; 44: 16411647.CrossRefGoogle ScholarPubMed
38. Beroukhim, RS, Roosevelt, G, Yetman, AT. Comparison of the pattern of aortic dilation in children with the Marfan’s syndrome versus children with a bicuspid aortic valve. Am J Cardiol 2006; 98: 10941095.Google Scholar
39. Bonow, RO, Carabello, B, Chatterjee, K, et al. ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines for the Management of Patients with Valvular Heart Disease). J Am Coll Cardiol 2006; 48: e1e148.CrossRefGoogle Scholar
40. Borger, MA, Preston, M, Ivanov, J, et al. Should the ascending aorta be replaced more frequently in patients with bicuspid aortic valve disease? J Thorac Cardiovasc Surg 2004; 128: 677683.CrossRefGoogle ScholarPubMed
41. Jonsson, H, Ivert, T, Brodin, LA. Echocardiographic findings in 83 patients 13–26 years after intracardiac repair of tetralogy of Fallot. Eur Heart J 1995; 69: 12551263.Google Scholar
42. Tan, JL, Davlouros, PA, McCarthy, KP, Gatzoulis, MA, Ho, SY. Intrinsic histologic abnormalities of aortic root and ascending aorta in tetralogy of Fallot. Circulation 2005; 112: 961968.Google Scholar
43. Niwa, K. Aortic root dilatation in tetralogy of Fallot long-term after repair-histology of the aorta in tetralogy of Fallot: evidence of intrinsic aortopathy. Int J Cardiol 2005; 103: 117119.CrossRefGoogle ScholarPubMed
44. Frischhertz, BP, Shamszad, P, Pedroza, C, Milewicz, DM, Morris, SA. Thoracic aortic dissection and rupture in conotruncal cardiac defects: A population-based study. Int J Cardiol 2015; 184: 521527.Google Scholar
45. Braverman, AC, Harris, KM, Kovacs, RJ, Maron, BJ. American Heart Association Electrocardiography and Arrhythmias Committee of the Council on Clinical Cardiology, Council on Cardiovascular Disease in the Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and the American College of Cardiology. Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 7: aortic diseases, including Marfan syndrome: A scientific statement from the American Heart Association and American College of Cardiology. J Am Coll Cardiol 2015; 66: 23982403.Google Scholar