Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Clinical manifestations and diagnosis of bicuspid aortic valve in adults

Alan C Braverman, MD
Section Editor
Candice Silversides, MD, MS, FRCPC
Deputy Editor
Susan B Yeon, MD, JD, FACC


The bicuspid aortic valve is one of the most common types of congenital heart disease, affecting approximately one percent of the population [1]. Bicuspid aortic valve typically occurs sporadically, but may occur as an autosomal dominant inherited disorder with variable penetrance. It may occur as an isolated lesion or associated with other congenital cardiovascular defects or aortopathy syndromes. A bicuspid aortic valve may develop significant aortic regurgitation and/or stenosis and is at risk for infective endocarditis. Bicuspid aortic valve patients often have aortic root and/or ascending aortic dilatation, with the prevalence of aortic enlargement increasing with age [2]. Bicuspid aortic valve is a risk factor for aortic aneurysm and acute aortic dissection, which is related to underlying aortopathy, cystic medial degeneration, and hemodynamic factors.

This topic will discuss the clinical presentation and diagnosis of bicuspid aortic valve. Treatment of patients with bicuspid aortic valve disease is discussed separately. (See "Management of adults with bicuspid aortic valve disease".)


The anatomy of the bicuspid aortic valve includes unequal cusp size (generally due to fusion of two cusps producing the larger of two cusps), a raphe, and smooth cusp margins [1]. A raphe or fibrous ridge is the site of fusion of the two conjoined cusps and is identifiable in most cases. There is a wide spectrum of bicuspid aortic valves, including partial or complete leaflet fusion, the presence or absence of a raphe or multiple raphes, and different orientations of the true commissures [3]. The right and left coronary leaflets are the most commonly fused (70 to 86 percent) with the true commissures oriented in anterior-posterior position (typical pattern). Right and noncoronary leaflet fusion with right-left leaflet orientation (atypical pattern) occurs in 12 percent, while left and noncoronary leaflet fusion (3 percent) is the least common type of bicuspid aortic valve [4]. The coronary arteries usually arise in front of the cusps in which a raphe is present.

Leaflet orientation may affect valve function with fusion of the right and noncoronary leaflet associated with greater valvular dysfunction [5]. Leaflet orientation may also predict the pattern of aortopathy and is associated with differential regional aortic wall stress [6]. (See 'Aortic dilation and aortic dissection' below.)

Calcification of the bicuspid aortic valve increases with age and occurs more rapidly than that seen with tricuspid aortic valve. There is abnormal leaflet motion and turbulence during the cardiac cycle in bicuspid aortic valves and this may play a role in premature degeneration [7].


Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Sep 2016. | This topic last updated: Jun 27, 2016.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
  1. Braverman AC. The Bicuspid Aortic Valve and Associated Aortic Disease. In: Valvular Heart Disase, 4th, Otto CM, Bonow RO. (Eds), Saunders/Elsevier, Philadelpha 2013. p.179.
  2. Verma S, Siu SC. Aortic dilatation in patients with bicuspid aortic valve. N Engl J Med 2014; 370:1920.
  3. Sievers HH, Schmidtke C. A classification system for the bicuspid aortic valve from 304 surgical specimens. J Thorac Cardiovasc Surg 2007; 133:1226.
  4. Sabet HY, Edwards WD, Tazelaar HD, Daly RC. Congenitally bicuspid aortic valves: a surgical pathology study of 542 cases (1991 through 1996) and a literature review of 2,715 additional cases. Mayo Clin Proc 1999; 74:14.
  5. Fernandes SM, Khairy P, Sanders SP, Colan SD. Bicuspid aortic valve morphology and interventions in the young. J Am Coll Cardiol 2007; 49:2211.
  6. Guzzardi DG, Barker AJ, van Ooij P, et al. Valve-Related Hemodynamics Mediate Human Bicuspid Aortopathy: Insights From Wall Shear Stress Mapping. J Am Coll Cardiol 2015; 66:892.
  7. Robicsek F, Thubrikar MJ, Cook JW, Fowler B. The congenitally bicuspid aortic valve: how does it function? Why does it fail? Ann Thorac Surg 2004; 77:177.
  8. Larson EW, Edwards WD. Risk factors for aortic dissection: a necropsy study of 161 cases. Am J Cardiol 1984; 53:849.
  9. Nistri S, Basso C, Marzari C, et al. Frequency of bicuspid aortic valve in young male conscripts by echocardiogram. Am J Cardiol 2005; 96:718.
  10. Huntington K, Hunter AG, Chan KL. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 1997; 30:1809.
  11. Cripe L, Andelfinger G, Martin LJ, et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004; 44:138.
  12. Loscalzo ML, Goh DL, Loeys B, et al. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A 2007; 143A:1960.
  13. Hiratzka LF, Bakris GL, Beckman JA, et al. 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 2010; 121:e266.
  14. Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005; 437:270.
  15. Martin LJ, Ramachandran V, Cripe LH, et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet 2007; 121:275.
  16. Braverman AC. Aortic involvement in patients with a bicuspid aortic valve. Heart 2011; 97:506.
  17. Guo DC, Gong L, Regalado ES, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet 2015; 96:170.
  18. Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines on the management of adults with congenital heart disease). Circulation 2008; 118:e714.
  19. Nishimura RA, Otto CM, Bonow RO, et al. 2014 AHA/ACC guideline 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. J Am Coll Cardiol 2014; 63:e57.
  20. Hales AR, Mahle WT. Echocardiography screening of siblings of children with bicuspid aortic valve. Pediatrics 2014; 133:e1212.
  21. Oppenheimer-Dekker A, Gittenberger-de Groot AC, Bartelings MM, et al. Abnormal architecture of the ventricles in hearts with an overriding aortic valve and a perimembranous ventricular septal defect ("Eisenmenger VSD"). Int J Cardiol 1985; 9:341.
  22. Neumayer U, Stone S, Somerville J. Small ventricular septal defects in adults. Eur Heart J 1998; 19:1573.
  23. Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome. Circulation 2007; 116:1663.
  24. Koenraadt WM, Tokmaji G, DeRuiter MC, et al. Coronary anatomy as related to bicuspid aortic valve morphology. Heart 2016; 102:943.
  25. Michelena HI, Prakash SK, Della Corte A, et al. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation 2014; 129:2691.
  26. Braverman AC. Heritable thoracic aortic aneurysm disease: recognizing phenotypes, exploring genotypes. J Am Coll Cardiol 2015; 65:1337.
  27. Ayad RF, Grayburn PA, Ko JM, et al. Accuracy of two-dimensional echocardiography in determining aortic valve structure in patients >50 years of age having aortic valve replacement for aortic stenosis. Am J Cardiol 2011; 108:1589.
  28. Biaggi P, Matthews F, Braun J, et al. Gender, age, and body surface area are the major determinants of ascending aorta dimensions in subjects with apparently normal echocardiograms. J Am Soc Echocardiogr 2009; 22:720.
  29. Tanaka R, Yoshioka K, Niinuma H, et al. Diagnostic value of cardiac CT in the evaluation of bicuspid aortic stenosis: comparison with echocardiography and operative findings. AJR Am J Roentgenol 2010; 195:895.
  30. Gleeson TG, Mwangi I, Horgan SJ, et al. Steady-state free-precession (SSFP) cine MRI in distinguishing normal and bicuspid aortic valves. J Magn Reson Imaging 2008; 28:873.
  31. Hager A, Kaemmerer H, Rapp-Bernhardt U, et al. Diameters of the thoracic aorta throughout life as measured with helical computed tomography. J Thorac Cardiovasc Surg 2002; 123:1060.
  32. Hannuksela M, Lundqvist S, Carlberg B. Thoracic aorta--dilated or not? Scand Cardiovasc J 2006; 40:175.
  33. Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989; 64:507.
  34. Devereux RB, de Simone G, Arnett DK, et al. Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age. Am J Cardiol 2012; 110:1189.
  35. Campens L, Demulier L, De Groote K, et al. Reference values for echocardiographic assessment of the diameter of the aortic root and ascending aorta spanning all age categories. Am J Cardiol 2014; 114:914.
  36. Goldstein SA, Evangelista A, Abbara S, et al. Multimodality imaging of diseases of the thoracic aorta in adults: from the American Society of Echocardiography and the European Association of Cardiovascular Imaging: endorsed by the Society of Cardiovascular Computed Tomography and Society for Cardiovascular Magnetic Resonance. J Am Soc Echocardiogr 2015; 28:119.
  37. Hiratzka LF, Creager MA, Isselbacher EM, et al. Surgery for Aortic Dilatation in Patients With Bicuspid Aortic Valves: A Statement of Clarification From the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol 2016; 67:724.
  38. Adamo L, Braverman AC. Surgical threshold for bicuspid aortic valve aneurysm: a case for individual decision-making. Heart 2015; 101:1361.
  39. Ward C. Clinical significance of the bicuspid aortic valve. Heart 2000; 83:81.
  40. Michelena HI, Desjardins VA, Avierinos JF, et al. Natural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the community. Circulation 2008; 117:2776.
  41. Tzemos N, Therrien J, Yip J, et al. Outcomes in adults with bicuspid aortic valves. JAMA 2008; 300:1317.
  42. Roberts WC, Vowels TJ, Ko JM. Natural history of adults with congenitally malformed aortic valves (unicuspid or bicuspid). Medicine (Baltimore) 2012; 91:287.
  43. Roberts WC, Ko JM. Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation. Circulation 2005; 111:920.
  44. Roberts WC, Janning KG, Ko JM, et al. Frequency of congenitally bicuspid aortic valves in patients ≥80 years of age undergoing aortic valve replacement for aortic stenosis (with or without aortic regurgitation) and implications for transcatheter aortic valve implantation. Am J Cardiol 2012; 109:1632.
  45. Mohler ER 3rd. Are atherosclerotic processes involved in aortic-valve calcification? Lancet 2000; 356:524.
  46. Beppu S, Suzuki S, Matsuda H, et al. Rapidity of progression of aortic stenosis in patients with congenital bicuspid aortic valves. Am J Cardiol 1993; 71:322.
  47. Braverman AC, Güven H, Beardslee MA, et al. The bicuspid aortic valve. Curr Probl Cardiol 2005; 30:470.
  48. Novaro GM, Tiong IY, Pearce GL, et al. Features and predictors of ascending aortic dilatation in association with a congenital bicuspid aortic valve. Am J Cardiol 2003; 92:99.
  49. Roberts WC, Morrow AG, McIntosh CL, et al. Congenitally bicuspid aortic valve causing severe, pure aortic regurgitation without superimposed infective endocarditis. Analysis of 13 patients requiring aortic valve replacement. Am J Cardiol 1981; 47:206.
  50. Girdauskas E, Disha K, Rouman M, et al. Aortic events after isolated aortic valve replacement for bicuspid aortic valve root phenotype: echocardiographic follow-up study. Eur J Cardiothorac Surg 2015; 48:e71.
  51. Awadallah SM, Kavey RE, Byrum CJ, et al. The changing pattern of infective endocarditis in childhood. Am J Cardiol 1991; 68:90.
  52. Lamas CC, Eykyn SJ. Bicuspid aortic valve--A silent danger: analysis of 50 cases of infective endocarditis. Clin Infect Dis 2000; 30:336.
  53. Roberts WC. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 1970; 26:72.
  54. Oliver JM, Alonso-Gonzalez R, Gonzalez AE, et al. Risk of aortic root or ascending aorta complications in patients with bicuspid aortic valve with and without coarctation of the aorta. Am J Cardiol 2009; 104:1001.
  55. Abbott ME. Coarctation of the aorta of the adult type: II. A statistical study and historical retrospect of 200 recorded cases with autopsy, of stenosis or obliteration of the descending arch in subjects above the age of two years. Am Heart J 1928; 3:574.
  56. Bonderman D, Gharehbaghi-Schnell E, Wollenek G, et al. Mechanisms underlying aortic dilatation in congenital aortic valve malformation. Circulation 1999; 99:2138.
  57. Hardikar AA, Marwick TH. Surgical thresholds for bicuspid aortic valve associated aortopathy. JACC Cardiovasc Imaging 2013; 6:1311.
  58. Michelena HI, Khanna AD, Mahoney D, et al. Incidence of aortic complications in patients with bicuspid aortic valves. JAMA 2011; 306:1104.
  59. Schaefer BM, Lewin MB, Stout KK, et al. Usefulness of bicuspid aortic valve phenotype to predict elastic properties of the ascending aorta. Am J Cardiol 2007; 99:686.
  60. Barker AJ, Markl M, Bürk J, et al. Bicuspid aortic valve is associated with altered wall shear stress in the ascending aorta. Circ Cardiovasc Imaging 2012; 5:457.
  61. Della Corte A, Bancone C, Quarto C, et al. Predictors of ascending aortic dilatation with bicuspid aortic valve: a wide spectrum of disease expression. Eur J Cardiothorac Surg 2007; 31:397.
  62. 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.
  63. Roberts CS, Roberts WC. Dissection of the aorta associated with congenital malformation of the aortic valve. J Am Coll Cardiol 1991; 17:712.
  64. Wojnarski CM, Svensson LG, Roselli EE, et al. Aortic Dissection in Patients With Bicuspid Aortic Valve-Associated Aneurysms. Ann Thorac Surg 2015; 100:1666.
  65. Cecconi M, Manfrin M, Moraca A, et al. Aortic dimensions in patients with bicuspid aortic valve without significant valve dysfunction. Am J Cardiol 2005; 95:292.
  66. Ikonomidis JS, Jones JA, Barbour JR, et al. Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with bicuspid or tricuspid aortic valves. J Thorac Cardiovasc Surg 2007; 133:1028.
  67. Forsell C, Björck HM, Eriksson P, et al. Biomechanical properties of the thoracic aneurysmal wall: differences between bicuspid aortic valve and tricuspid aortic valve patients. Ann Thorac Surg 2014; 98:65.
  68. Jones JA, Stroud RE, Kaplan BS, et al. Differential protein kinase C isoform abundance in ascending aortic aneurysms from patients with bicuspid versus tricuspid aortic valves. Circulation 2007; 116:I144.
  69. Gomez D, Al Haj Zen A, Borges LF, et al. Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. J Pathol 2009; 218:131.
  70. Roberts WC, Vowels TJ, Ko JM, et al. Comparison of the structure of the aortic valve and ascending aorta in adults having aortic valve replacement for aortic stenosis versus for pure aortic regurgitation and resection of the ascending aorta for aneurysm. Circulation 2011; 123:896.
  71. Grotenhuis HB, Ottenkamp J, Westenberg JJ, et al. Reduced aortic elasticity and dilatation are associated with aortic regurgitation and left ventricular hypertrophy in nonstenotic bicuspid aortic valve patients. J Am Coll Cardiol 2007; 49:1660.
  72. Biner S, Rafique AM, Ray I, et al. Aortopathy is prevalent in relatives of bicuspid aortic valve patients. J Am Coll Cardiol 2009; 53:2288.
  73. Mahadevia R, Barker AJ, Schnell S, et al. Bicuspid aortic cusp fusion morphology alters aortic three-dimensional outflow patterns, wall shear stress, and expression of aortopathy. Circulation 2014; 129:673.