Korean Circulation Journal

The Korean Society of Cardiology (대한심장학회)
권호 표지
DOI QR코드

DOI QR Code

Aortopathy in Congenital Heart Disease in Adults: Aortic Dilatation with Decreased Aortic Elasticity that Impacts Negatively on Left Ventricular Function

  • Niwa, Koichiro (Department of Cardiology and Adult CHD Program, Cardiovascular Center, St Luke's International Hospital)
  • Published : 2013.04.30
⟨ Previous Next ⟩

Abstract

Bicuspid aortic valve and/or coarctation of the aorta are consistently associated with ascending aortic and para-coarctation medial abnormalities. Medial abnormalities in the ascending aorta are prevalent in other types of patients with a variety of forms congenital heart disease (CHD), such as single ventricle, persistent truncus arteriosus, transposition of the great arteries, hypoplastic left heart syndrome, tetralogy of Fallot. These abnormalities encompass a wide age range, and may predispose to dilatation, aneurysm, and rupture that necessitates aortic valve and root surgery. This dilatation can develop in CHD patients without stenotic region. These CHDs exhibit ongoing dilatation of the aortic root and reduced aortic elasticity and increased aortic stiffness that may relate to intrinsic properties of the aortic root. The concept of aortic dilatation is shifting a paradigm of aortic dilatation, as so called post stenotic dilatation, to primary intrinsic aortopahy. These aortic dilatation and increased stiffness can induce aortic aneurysm, rupture of the aorta and aortic regurgitation, but also provoke left ventricular hypertrophy, reduced coronary artery flow and left ventricular failure. We can recognize this association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction as a new clinical entity: "aortopathy".

Keywords

References

  1. Niwa K, Perloff JK, Bhuta SM, et al. Structural abnormalities of great arterial walls in congenital heart disease: light and electron microscopic analyses. Circulation 2001;103:393-400. https://doi.org/10.1161/01.CIR.103.3.393
  2. Roberts CS, Roberts WC. Dissection of the aorta associated with congenital malformation of the aortic valve. J Am Coll Cardiol 1991;17:712-6. https://doi.org/10.1016/S0735-1097(10)80188-3
  3. McKusick VA. Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. Lancet 1972;1:1026-7.
  4. Seki M, Kurishima C, Kawasaki H, Masutani S, Senzaki H. Aortic stiffness and aortic dilation in infants and children with tetralogy of Fallot before corrective surgery: evidence for intrinsically abnormal aortic mechanical property. Eur J Cardiothorac Surg 2012;41:277-82. https://doi.org/10.1016/j.ejcts.2011.05.024
  5. Senzaki H, Iwamoto Y, Ishido H, et al. Arterial haemodynamics in patients after repair of tetralogy of Fallot: influence on left ventricular after load and aortic dilatation. Heart 2008;94:70-4. https://doi.org/10.1136/hrt.2006.114306
  6. Chong WY, Wong WH, Chiu CS, Cheung YF. Aortic root dilation and aortic elastic properties in children after repair of tetralogy of Fallot. Am J Cardiol 2006;97:905-9. https://doi.org/10.1016/j.amjcard.2005.09.141
  7. Perloff JK. Congenital aortic stenosis: Congenital aortic regurgitation. In: Perloff JK, Marelli AJ, editors. Clinical Recognition of Congenital Heart Disease. 6th ed. Philadelphia: Elsevier Saunders Company;2012. p.74-100.
  8. Erdheim J. Medionecrosis aortae idiopathica cystica. Virchows Arch Pathol Anat 1930;276:187-229. https://doi.org/10.1007/BF02275142
  9. Edwards WD, Leaf DS, Edwards JE. Dissecting aortic aneurysm associated with congenital bicuspid aortic valve. Circulation 1978;57:1022-5. https://doi.org/10.1161/01.CIR.57.5.1022
  10. Hahn RT, Roman MJ, Mogtader AH, Devereux RB. Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. J Am Coll Cardiol 1992;19:283-8. https://doi.org/10.1016/0735-1097(92)90479-7
  11. Nistri S, Sorbo MD, Marin M, Palisi M, Scognamiglio R, Thiene G. Aortic root dilatation in young men with normally functioning bicuspid aortic valves. Heart 1999;82:19-22.
  12. Reid RT. Bicuspid aortic valve associated with aneurysmal dilatation of the ascending aorta. Med J Aust 1952;2:628-9.
  13. Larson EW, Edwards WD. Risk factors for aortic dissection: a necropsy study of 161 cases. Am J Cardiol 1984;53:849-55. https://doi.org/10.1016/0002-9149(84)90418-1
  14. Gurvitz M, Chang RK, Drant S, Allada V. Frequency of aortic root dilation in children with a bicuspid aortic valve. Am J Cardiol 2004;94:1337-40. https://doi.org/10.1016/j.amjcard.2004.07.130
  15. de Sa M, Moshkovitz Y, Butany J, David TE. Histologic abnormalities of the ascending aorta and pulmonary trunk in patients with bicuspid aortic valve disease: clinical relevance to the ross procedure. J Thorac Cardiovasc Surg 1999;118:588-94. https://doi.org/10.1016/S0022-5223(99)70002-4
  16. Elkins RC, Thompson DM, Lane MM, Elkins CC, Peyton MD. Ross operation: 16-year experience. J Thorac Cardiovasc Surg 2008;136:623-30, 630.e1-5. https://doi.org/10.1016/j.jtcvs.2008.02.080
  17. David TE, Omran A, Ivanov J, et al. Dilation of the pulmonary autograft after the Ross procedure. J Thorac Cardiovasc Surg 2000;119:210-20. https://doi.org/10.1016/S0022-5223(00)70175-9
  18. Isner JM, Donaldson RF, Fulton D, Bhan I, Payne DD, Cleveland RJ. Cystic medial necrosis in coarctation of the aorta: a potential factor contributing to adverse consequences observed after percutaneous balloon angioplasty of coarctation sites. Circulation 1987;75:689-95. https://doi.org/10.1161/01.CIR.75.4.689
  19. Bahnson HT, Spencer FC, Landtman B, Wolf MD, Neill CA, Taussig HB. Surgical treatment and follow-up of 147 cases of tetralogy of Fallottreated by correction. J Thorac Cardiovasc Surg 1962;44:419-32.
  20. Rieker RP, Berman MA, Stansel HC Jr. Postoperative studies in patients with tetralogy of Fallot. Ann Thorac Surg 1975;19:17-26. https://doi.org/10.1016/S0003-4975(10)65727-X
  21. Capelli H, Ross D, Somerville J. Aortic regurgitation in tetrad of Fallot and pulmonary atresia. Am J Cardiol 1982;49:1979-83. https://doi.org/10.1016/0002-9149(82)90218-1
  22. Tan JL, Davlouros PA, McCarthy KP, Gatzoulis MA, Ho SY. Intrinsic histological abnormalities of aortic root and ascending aorta in tetralogy of Fallot: evidence of causative mechanism for aortic dilatation and aortopathy. Circulation 2005;112:961-8. https://doi.org/10.1161/CIRCULATIONAHA.105.537928
  23. 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;103:117-9. https://doi.org/10.1016/j.ijcard.2004.07.002
  24. Losay J, Touchot A, Capderou A, et al. Aortic valve regurgitation after arterial switch operation for transposition of the great arteries: incidence, risk factors, and outcome. J Am Coll Cardiol 2006;47:2057-62. https://doi.org/10.1016/j.jacc.2005.12.061
  25. Marino BS, Wernovsky G, McElhinney DB, et al. Neo-aortic valvar function after the arterial switch. Cardiol Young 2006;16:481-9. https://doi.org/10.1017/S1047951106000953
  26. Takeuchi T, Imai Y, Takanashi Y, et al. Histological study of the great arteries in patients with arterial switch operation. Act Ped Cardiol Jpn 1996;12:506-12.
  27. Schwartz ML, Gauvreau K, del Nido P, Mayer JE, Colan SD. Long-term predictors of aortic root dilation and aortic regurgitation after arterial switch operation. Circulation 2004;110(11 Suppl 1):II128-32. https://doi.org/10.1161/01.CIR.0000134480.06723.D8
  28. Cohen MS, Marino BS, McElhinney DB, et al. Neo-aortic root dilation and valve regurgitation up to 21 years after staged reconstruction for hypoplastic left heart syndrome. J Am Coll Cardiol 2003;42:533-40. https://doi.org/10.1016/S0735-1097(03)00715-0
  29. Klein AL, Burstow DJ, Tajik AJ, et al. Age-related prevalence of valvular regurgitation in normal subjects: a comprehensive color flow examination of 118 volunteers. J Am Soc Echocardiogr 1990;3:54-63.
  30. Yoshida K, Yoshikawa J, Shakudo M, et al. Color Doppler evaluation of valvular regurgitation in normal subjects. Circulation 1988;78:840-7. https://doi.org/10.1161/01.CIR.78.4.840
  31. Carlo WF, McKenzie ED, Slesnick TC. Root dilation in patients with truncus arteriosus. Congenit Heart Dis 2011;6:228-33. https://doi.org/10.1111/j.1747-0803.2011.00520.x
  32. Egan M, Phillips A, Cook SC. Aortic dissection in the adult Fontan with aortic root enlargement. Pediatr Cardiol 2009;30:562-3. https://doi.org/10.1007/s00246-009-9435-0
  33. Carlson RG, Lillehei CW, Edwards JE. Cystic medial necrosis of the ascending aorta in relation to age and hypertension. Am J Cardiol 1970;25:411-5. https://doi.org/10.1016/0002-9149(70)90006-8
  34. Schlatmann TJ, Becker AE. Histologic changes in the normal aging aorta: implications for dissecting aortic aneurysm. Am J Cardiol 1977;39:13-20. https://doi.org/10.1016/S0002-9149(77)80004-0
  35. Manalo-Estrella P, Barker AE. Histopathologic findings in human aortic media associated with pregnancy. Arch Pathol 1967;83:336-41.
  36. Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995;4 Spec No:1799-809. https://doi.org/10.1093/hmg/4.suppl_1.1799
  37. Segura AM, Luna RE, Horiba K, et al. Immunohistochemistry of matrix metalloproteinases and their inhibitors in thoracic aortic aneurysms and aortic valves of patients with Marfan's syndrome. Circulation 1998;98(19 Suppl):II331-7; discussion II337-8.
  38. Bonderman D, Gharehbaghi-Schnell E, Wollenek G, Maurer G, Baumgartner H, Lang IM. Mechanisms underlying aortic dilatation in congenital aortic valve malformation. Circulation 1999;99:2138-43. https://doi.org/10.1161/01.CIR.99.16.2138
  39. Ihling C, Szombathy T, Nampoothiri K, et al. Cystic medial degeneration of the aorta is associated with p53 accumulation, Bax upregulation, apoptotic cell death, and cell proliferation. Heart 1999;82:286-93. https://doi.org/10.1136/hrt.82.3.286
  40. Wang J, Nagy A, Larsson J, Dudas M, Sucov HM, Kaartinen V. Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects. BMC Dev Biol 2006;6:51. https://doi.org/10.1186/1471-213X-6-51
  41. Niwa K, Siu SC, Webb GD, Gatzoulis MA. Progressive aortic root dilatation in adults late after repair of tetralogy of Fallot. Circulation 2002;106:1374-8. https://doi.org/10.1161/01.CIR.0000028462.88597.AD
  42. Bhat AH, Smith CJ, Hawker RE. Late aortic root dilatation in tetralogy of Fallot may be prevented by early repair in infancy. Pediatr Cardiol 2004;25:654-9. https://doi.org/10.1007/s00246-003-0665-2
  43. Rao BNS, Anderson RC, Edwards JE. Anatomic variations in the tetralogy of Fallot. Am Heart J 1971;81:361-71. https://doi.org/10.1016/0002-8703(71)90106-2
  44. Schaefer BM, Lewin MB, Stout KK, Byers PH, Otto CM. Usefulness of bicuspid aortic valve phenotype to predict elastic properties of the ascending aorta. Am J Cardiol 2007;99:686-90. https://doi.org/10.1016/j.amjcard.2006.09.118
  45. Schaefer BM, Lewin MB, Stout KK, et al. The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape. Heart 2008;94:1634-8. https://doi.org/10.1136/hrt.2007.132092
  46. 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.
  47. Chowdhury UK, Mishra AK, Balakrishnan P, et al. Role of fibrillin-1 genetic mutations and polymorphism in aortic dilatation in patients undergoing intracardiac repair of tetralogy of Fallot. J Thorac Cardiovasc Surg 2008;136:757-66, 766.e1-10. https://doi.org/10.1016/j.jtcvs.2007.12.044
  48. John AS, McDonald-McGinn DM, Zackai EH, Goldmuntz E. Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A 2009;149A:939-42. https://doi.org/10.1002/ajmg.a.32770
  49. Grotenhuis HB, Ottenkamp J, de Bruijn L, et al. Aortic elasticity and size are associated with aortic regurgitation and left ventricular dysfunction in tetralogy of Fallot after pulmonary valve replacement. Heart 2009;95:1931-6. https://doi.org/10.1136/hrt.2009.175877
  50. Cheung YF, Ou X, Wong SJ. Central and peripheral arterial stiffness in patients after surgical repair of tetralogy of Fallot: implications for aortic root dilatation. Heart 2006;92:1827-30. https://doi.org/10.1136/hrt.2006.091199
  51. Murakami T, Nakazawa M, Momma K, Imai Y. Impaired distensibility of neoaorta after arterial switch procedure. Ann Thorac Surg 2000;70:1907-10. https://doi.org/10.1016/S0003-4975(00)01837-3
  52. Sievers HH, Lange PE, Arensman FW, et al. Influence of two-stage anatomic correction on size and distensibility of the anatomic pulmonary/functional aortic root in patients with simple transposition of the great arteries. Circulation 1984;70:202-8. https://doi.org/10.1161/01.CIR.70.2.202

Cited by

  1. Successful Bentall procedure in a patient with a Fontan circulation vol.19, pp.3, 2013, https://doi.org/10.1093/icvts/ivu163
  2. Clinical Outcome, Valve Dysfunction, and Progressive Aortic Dilation in a Pediatric Population With Isolated Bicuspid Aortic Valve vol.35, pp.5, 2014, https://doi.org/10.1007/s00246-013-0856-4
  3. Postoperative residua and sequelae in adults with repaired tetralogy of Fallot vol.64, pp.7, 2013, https://doi.org/10.1007/s11748-016-0651-2
  4. Molecular and Genetic Insights into Thoracic Aortic Dilation in Conotruncal Heart Defects vol.3, pp.None, 2013, https://doi.org/10.3389/fcvm.2016.00018
  5. Letter by Murakami et al Regarding Article, “Segmental Aortic Stiffening Contributes to Experimental Abdominal Aortic Aneurysm Development” vol.133, pp.1, 2016, https://doi.org/10.1161/circulationaha.115.017858
  6. Aortic stenting in the growing sheep causes aortic endothelial dysfunction but not hypertension: Clinical implications for coarctation repair : Maschietto et al. vol.12, pp.1, 2017, https://doi.org/10.1111/chd.12406
  7. Factors associated with aortic root dilatation after surgically repaired ventricular septal defect vol.34, pp.8, 2013, https://doi.org/10.1111/echo.13622
  8. Landmark lecture: Perloff lecture: Tribute to Professor Joseph Kayle Perloff and lessons learned from him: aortopathy in adults with CHD vol.27, pp.10, 2013, https://doi.org/10.1017/s1047951117002116
  9. Two Cases of Aortic Root Replacement After Fontan Completion vol.10, pp.4, 2013, https://doi.org/10.1177/2150135118755984
  10. Impact of Pregnancy on Aortic Root in Women with Repaired Conotruncal Anomalies vol.40, pp.6, 2013, https://doi.org/10.1007/s00246-019-02112-4
  11. Association of aortic root dilatation with left ventricular function in patients with postoperative ventricular septal defect vol.34, pp.9, 2019, https://doi.org/10.1007/s00380-019-01372-7
  12. Aortic root replacement in a patient with unoperated tricuspid atresia vol.29, pp.9, 2013, https://doi.org/10.1017/s1047951119001719
  13. Aortopathy in patients with tetralogy of Fallot vol.3, pp.None, 2013, https://doi.org/10.1016/j.ijcchd.2021.100111