Dwupłatkowa zastawka aortalna – aktualny stan wiedzy Artykuł przeglądowy
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gru 31, 2014
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aortalna zastawka dwupłatkowa, wrodzona wada serca, tętniak aorty
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Abstrakt
Dwupłatkowa zastawka aortalna (BAV, bicuspid aortic valve) jest najczęstszą wadą wrodzoną serca. Obecnie, ze względu na udowodnioną korelację pomiędzy występowaniem BAV a ciężkimi, często stanowiącymi zagrożenie dla życia, powikłaniami, wada ta stanowi istotny problem kliniczny.
Praca ta ma na celu podsumowanie aktualnego stanu wiedzy dotyczącego BAV. W oparciu o dostępną literaturę przedstawiono epidemiologię, embriologię, morfologię, genetykę, kryteria rozpoznania oraz najczęstsze powikłania BAV.
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Lis , P., Łyżwa , P., Walczewski , R., Kosior , D. A., & Możeńska , O. (2014). Dwupłatkowa zastawka aortalna – aktualny stan wiedzy . Kardiologia W Praktyce, 8(4), 41-53. Pobrano z https://www.journalsmededu.pl/index.php/kwp/article/view/1484
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Utwór dostępny jest na licencji Creative Commons Uznanie autorstwa – Użycie niekomercyjne – Bez utworów zależnych 4.0 Międzynarodowe.
Copyright: © Medical Education sp. z o.o. This is an Open Access article distributed under the terms of the Attribution-NonCommercial 4.0 International (CC BY-NC 4.0). License (https://creativecommons.org/licenses/by-nc/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Address reprint requests to: Medical Education, Marcin Kuźma (marcin.kuzma@mededu.pl)
Bibliografia
1. Laforest B., Nemer M.: Genetic insights into bicuspid aortic valve formation. Cardiol. Res Pract. 2012; 2012:180297.
2. Mordi I., Tzemos N.: Bicuspid aortic valve disease: a comprehensive review. Cardiol. Res Pract. 2012; 2012:196037.
3. Lewis T., Grant R.T.: Observations relating to subacute infective endocarditis. Heart 1923; 10: 21-99.
4. Wauchope G.: The clinical importance of variations in the number of cusps forming the aortic and pulmonary valves. Quarterly Journal of Medicin 1928; 21: 383-399.
5. Roberts W.C.: The congenitally bicuspid aortic valve. A study of 85 autopsy cases. American Journal of Cardiology 1970; 26(1): 72-83.
6. Larson W., Edwards W.D.: Risk factors for aortic dissection: a necropsy study of 161 cases. American Journal of Cardiology 1984; 53(6): 849-855.
7. Datta N., Bhusnurmath B., Khattri H.N. et al.: Anatomically isolated aortic valve disease. Morphologic study of 100 cases at autopsy. Japanese Heart Journal 1988; 29(5): 661-670.
8. Pauperio M., Azevedo A.C., Ferreira C.S.: The aortic valve with two leaflets – a study in 2,000 autopsies. Cardiology in the Young 1999; 9(5): 488-498.
9. Basso C., Boschello M., Perrone C. et al.: An echocardiographic survey of primary school children for bicuspid aortic valve. American Journal of Cardiology 2004; 93(5): 661-663.
10. Tutar E., Ekici F., Atalay S. et al.: The prevalence of bicuspid aortic valve in newborns by echocardiographic screening. American Heart Journal 2005; 150(3): 513-515.
11. Nistri S., Basso C., Marzari C. et al.: Frequency of bicuspid aortic valve in young male conscripts by echocardiogram. American Journal of Cardiology 2005; 96(5): 718-721.
12. Gray G.W., Salisbury D.A., Gulino A.M.: Echocardiographic and color flow Doppler findings in military pilot applicants. Aviat. Space Environ Med. 1995; 66(1): 32-34.
13. Huntington K., Hunter A.G., Chan K.L.: A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J. Am. Coll. Cardiol. 1997; 30(7): 1809-1812.
14. Brickner M.E., Hillis L.D., Lange R.A.: Congenital heart disease in adults First of two parts. N. Engl. J. Med. 2000; 342(4): 256-263.
15. Duran A.C., Frescura C., Sans-Coma V. et al.: Bicuspid aortic valves in hearts with other congenital heart disease. J. Heart Valve Dis. 1995; 4(6): 581-590.
16. Yuan S.M., Jing H.: The bicuspid aortic valve and related disorders. Sao Paulo Med. J. 2010; 128(5): 296-301.
17. Brenner J.I., Berg K.A., Schneider D.S. et al.: Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome. Am. J. Dis. Child. 1989; 143(12): 1492-1494.
18. Siu S.C., Silversides C.K.: Bicuspid aortic valve disease. J. Am. Coll. Cardiol. 2010; 55(25): 2789-2800.
19. Hinton R.B. Jr, Martin L.J., Tabangin M.E. et al.: Hypoplastic left heart syndrome is heritable. J. Am. Coll. Cardiol. 2007; 50(16): 1590-1595.
20. Roberts W.C., Zafar S., Ko J.M. et al.: Combined congenitally bicuspid aortic valve and mitral valve prolapse causing pure regurgitation. Proc (Bayl. Univ. Med. Cent). 2013; 26(1): 30-32.
21. Iqbal M.Z., Eybel C.E., Messer J.V.: Mitral valve prolapse associated with bicuspid aortic valve. Cardiovasc. Rev. Rep. 1980; 1: 465-468.
22. Chisholm J.C.: Mitral valve prolapse syndrome associated with congenital bicuspid aortic valve. J. Natl. Med. Assoc. 1981; 73(10): 921-923.
23. Gungor B., Alper A.T., Celebi A., Bolca O.: Sinus node dysfunction as the first manifestation of left ventricular noncompaction with multiple cardiac abnormalities. Indian Pacing Electrophysiol. J. 2013; 13(4): 157-161.
24. Roos-Hesselink J.W., Schölzel B.E., Heijdra R.J. et al.: Aortic valve and aortic arch pathology after coarctation repair. Heart. 2003; 89(9): 1074-1077.
25. Braverman A.C., Güven H., Beardslee M.A. et al.: The bicuspid aortic valve. Curr. Probl. Cardiol. 2005; 30(9): 470-522.
26. Padang R., Bagnall R.D., Semsarian C.: Genetic basis of familial valvular heart disease. Circ. Cardiovasc. Genet. 2012; 5(5): 569-580.
27. Roberts W.C., Morrow A.G., Braunwald E.: Complete interruption of the aortic arch. Circulation 1962; 26: 39-59.
28. Bolling S.F., Iannettoni M.D., Dick M. et al.: Shone’s anomaly: operative results and late outcome. Ann. Thorac. Surg. 1990; 49(6): 887-893.
29. Popescu B.A., Jurcut R., Serban M. et al.: Shone’s syndrome diagnosed with echocardiography and confirmed at pathology. Eur. J. Echocardiogr. 2008; 9(6) 865-867.
30. Lopez-Rangel E., Maurice M., McGillivray B., Friedman J.M.: Williams syndrome in adults. Am. J. Med. Genet. 1992; 44(6): 720-729.
31. Higgins C.B., Wexler L.: Reversal of dominance of the coronary arterial system in isolated aortic stenosis and bicuspid aortic valve. Circulation 1975; 52(2): 292-296.
32. Stajic Z., Mijailovic Z.: Single coronary artery associated with severe bicuspid aortic valve stenosis. J. Saudi Heart Assoc. 2013; 25(4): 277-278.
33. Bartel H.: Embriologia medyczna. PZWL, Warszawa 2009: 154-170.
34. Roberts W.C.: Morphologic aspects of cardiac valve dysfunction. Am. Heart J. 1992; 123(6): 1610-1632.
35. Schaefer B.M., Lewin M.B., Stout K.K. et al.: The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape. Heart 2008; 94(12): 1634-1638.
36. Fernandes S.M., Sanders S.P., Khairy P. et al.: Morphology of bicuspid aortic valve in children and adolescents. J. Am. Coll. Cardiol. 2004; 44(8): 1648-1651.
37. Russo C.F., Cannata A., Lanfranconi M. et al.: Is aortic wall degeneration related to bicuspid aortic valve anatomy in patients with valvular disease? J. Thorac. Cardiovasc. Surg. 2008; 136(4): 937-942.
38. Ikonomidis J.S., Ruddy J.M., Benton S.M. Jr et al.: Aortic dilatation with bicuspid aortic valves: cusp fusion correlates to matrix metalloproteinases and inhibitors. Ann. Thorac. Surg. 2012; 93(2): 457-463.
39. Forteza A., Vera F., Centeno J. et al.: Preservation of the bicuspid aortic valve associated with aneurysms of the aortic root and ascending aorta. Rev. Esp. Cardiol. 2013; 66(8): 644-648.
40. Sabet H.Y., Edwards W.D., Tazelaar H.D., Daly R.C.: 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(1): 14-26.
41. Foffa I., Ait Alì L., Panesi P. et al.: Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve. BMC Med. Genet. 2013; 14: 44.
42. Sverdlov A.L., Ngo D.T., Chapman M.J. et al.: Pathogenesis of aortic stenosis: not just a matter of wear and tear. Am. J. Cardiovasc. Dis. 2011; 1(2): 185-199.
43. Laforest B., Andelfinger G., Nemer M.: Loss of Gata5 in mice leads to bicuspid aortic valve. J. Clin. Invest. 2011; 121(7): 2876-2887.
44. Chan K.L., Stinson W.A., Veinot J.P.: Reliability of transthoracic echocardiography in the assessment of aortic valve morphology: pathological correlation in 178 patients. Can. J. Cardiol. 1999; 15(1): 48-52.
45. Fernández B., Durán A.C., Fernández-Gallego T. et al.: Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities. J. Am. Coll. Cardiol. 2009; 54(24): 2312-2318.
46. Calloway T.J., Martin L.J., Zhang X. et al.: Risk factors for aortic valve disease in bicuspid aortic valve: a family-based study. Am. J. Med. Genet. A 2011; 155A(5): 1015-1020.
47. Girdauskas E., Disha K., Borger M.A., Kuntze T.: Relation of bicuspid aortic valve morphology to the dilatation pattern of the proximal aorta: focus on the transvalvular flow. Cardiol. Res Pract. 2012; 2012:478259.
48. Barker A.J., 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(4): 457-466.
49. Padang R., Bagnall R.D., Richmond D.R. et al.: Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. J. Mol. Cell. Cardiol. 2012; 53(2): 277-281.
50. Thomas P.S., Sridurongrit S., Ruiz-Lozano P., Kaartinen V.: Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development. PLoS One 2012; 7(4): e35539.
51. 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(4): 895-899.
52. Baron M.: An overview of the Notch signalling pathway. Semin. Cell Dev. Biol. 2003; 14(2): 113-119.
53. Iso T., Hamamori Y., Kedes L.: Notch signaling in vascular development. Arterioscler. Thromb Vasc. Biol. 2003; 23(4): 543-553.
54. Acharya A., Hans C.P., Koenig S.N. et al.: Inhibitory role of Notch1 in calcific aortic valve disease. PLoS One 2011; 6(11): e27743.
55. Abdulkareem N., Smelt J., Jahangiri M.: Bicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapy. Interact. Cardiovasc. Thorac. Surg. 2013; 17(3): 554-559.
56. Zegdi R., Ciobotaru V., Huerre C. et al.: Detecting aortic valve bicuspidy in patients with severe aortic valve stenosis: high diagnostic accuracy of colour Doppler transoesophageal echocardiography. Interact. Cardiovasc. Thorac. Surg. 2013; 16(1): 16-20.
57. Espinal M., Fuisz A.R., Nanda N.C. et al.: Sensitivity and specificity of transesophageal echocardiography for determination of aortic valve morphology. Am. Heart J. 2000; 139(6): 1071-1076.
58. Malaisrie S.C., Carr J., Mikati I. et al.: Cardiac magnetic resonance imaging is more diagnostic than 2-dimensional echocardiography in determining the presence of bicuspid aortic valve. J. Thorac. Cardiovasc. Surg. 2012; 144(2): 370-376.
59. Piccoli G., Slavich G., Gianfagna P., Gasparini D.: Cardiovascular flashlight Cleft bicuspid aortic valve: the Achilles’ heel of echocardiography? Eur. Heart J. 2010; 31(17): 2140.
60. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease:
executive summary. 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.
61. Demir M.: Left ventricular systolic and diastolic function in subjects with a bicuspid aortic valve without significant valvular dysfunction. Exp. Clin. Cardiol. 2013; 18(1): e1-4.
62. 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(3): 397-404.
63. Beroukhim R.S., Kruzick T.L., Taylor A.L. et al.: Progression of aortic dilation in children with a functionally normal bicuspid aortic valve. Am. J. Cardiol. 2006; 98(6): 828-830.
64. 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(2): 292-294.
65. La Canna G., Ficarra E., Tsagalau E. et al.: Progression rate of ascending aortic dilation in patients with normally functioning bicuspid and tricuspid aortic valves. Am. J. Cardiol. 2006; 98(2): 249-253.
66. Keane M.G., Wiegers S.E., Plappert T. et al.: Bicuspid aortic valves are associated with aortic dilatation out of proportion to coexistent valvular lesions. Circulation 2000; 102(19 Suppl. 3): III35-9.
67. Michelena H.I., Khanna A.D., Mahoney D. et al.: Incidence of aortic complications in patients with bicuspid aortic valves. JAMA 2011; 306(10): 1104-1112.
68. Hinton R.B.: Bicuspid aortic valve and thoracic aortic aneurysm: three patient populations, two disease phenotypes, and one shared genotype. Cardiol. Res Pract. 2012; 2012:926975.
69. Robicsek F., Thubrikar M.J., Cook J.W., Fowler B.: The congenitally bicuspid aortic valve: how does it function? Why does it fail? Ann. Thorac. Surg. 2004; 77(1): 177-185.
70. Della Corte A., Bancone C., Conti C.A. et al.: Restricted cusp motion in right-left type of bicuspid aortic valves: a new risk marker for aortopathy. J. Thorac. Cardiovasc. Surg. 2012; 144(2): 360-369, 369.e1.
71. Hope M.D., Hope T.A., Crook S.E. et al.: 4D flow CMR in assessment of valve-related ascending aortic disease. JACC Cardiovasc. Imaging 2011; 4(7): 781-787.
72. den Reijer P.M., Sallee D. 3rd, van der Velden P et al.: Hemodynamic predictors of aortic dilatation in bicuspid aortic valve by velocity-encoded cardiovascular magnetic resonance. J. Cardiovasc. Magn. Reson. 2010 Jan 13; 12:4.
73. Hope M.D., Wrenn J., Sigovan M. et al.: Imaging biomarkers of aortic disease: increased growth rates with eccentric systolic flow. J. Am. Coll. Cardiol. 2012; 60(4): 356-357.
74. Fazel S.S., Mallidi H.R., Lee R.S. et al.: The aortopathy of bicuspid aortic valve disease has distinctive patterns and usually involves the transverse aortic arch. J. Thorac. Cardiovasc. Surg. 2008; 135(4): 901-907, 907.e1-2.
75. Tadros T.M., Klein M.D., Shapira O.M.: Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119(6): 880-890.
76. Bonderman D., Gharehbaghi-Schnell E., Wollenek G. et al.: Mechanisms underlying aortic dilatation in congenital aortic valve malformation. Circulation 1999; 99(16): 2138-2143.
77. Gurvitz M., Chang R.K., Drant S., Allada V.: Frequency of aortic root dilation in children with a bicuspid aortic valve. Am. J. Cardiol. 2004; 94(10): 1337-1340.
78. Holmes K.W., Lehmann C.U., Dalal D. et al.: Progressive dilation of the ascending aorta in children with isolated bicuspid aortic valve. Am. J. Cardiol. 2007; 99(7): 978-983.
79. Fernandes S., Khairy P., Graham D.A. et al.: Bicuspid aortic valve and associated aortic dilation in the young. Heart 2012; 98(13): 1014-1019.
80. Russo C.F., Mazzetti S., Garatti A. et al.: Aortic complications after bicuspid aortic valve replacement: long-term results. Ann. Thorac. Surg. 2002; 74(5): S1773-1776; discussion S1792-1799.
81. Borger M.A., 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(5): 677-683.
82. Novaro G.M., Tiong I.Y., Pearce G.L. et al.: Features and predictors of ascending aortic dilatation in association with a congenital bicuspid aortic valve. Am. J. Cardiol. 2003; 92(1): 99-101.
83. Fedak P.W., de Sa M.P., Verma S. et al.: Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. J. Thorac. Cardiovasc. Surg. 2003; 126(3): 797-806.
84. Kutty S., Kaul S., Danford C.J., Danford D.A.: Main pulmonary artery dilation in association with congenital bicuspid aortic valve in the absence of pulmonary valve abnormality. Heart 2010; 96(21): 1756-1761.
85. Paes Leme M.: Molecular evaluation of the great vessels of patients with bicuspid aortic Valle disease. Rev. Bras. Cir. Cardiovasc. 2003; 18: 148-156.
86. de Sa M., Moshkovitz Y., Butany J., David T.E.: 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(4): 588-594.
87. Losenno K.L., Goodman R.L., Chu M.W.: Bicuspid aortic valve disease and ascending aortic aneurysms: gaps in knowledge. Cardiol. Res Pract. 2012; 2012: 145202.
88. Wilton E., Bland M., Thompson M., Jahangiri M.: Matrix metalloproteinase expression in the ascending aorta and aortic valve. Interact. Cardiovasc. Thorac. Surg. 2008; 7(1): 37-40.
89. LeMaire S.A., Wang X., Wilks J.A. et al.: Matrix metalloproteinases in ascending aortic aneurysms: bicuspid versus trileaflet aortic valves. J. Surg. Res. 2005; 123(1): 40-48.
90. Abaci O., Kocas C., Kilickesmez K.O. et al.: Matrix metalloproteinase-2 and -9 levels in patients with dilated ascending aorta and bicuspid aortic valve. Echocardiography 2013; 30(2): 121-126.
91. Wågsäter D., Paloschi V., Hanemaaijer R. et al.: Impaired collagen biosynthesis and cross-linking in aorta of patients with bicuspid aortic valve. J. Am. Heart Assoc. 2013 Feb 14; 2(1): e000034
92. Nataatmadja M., West J., Prabowo S., West M.: Angiotensin II Receptor Antagonism Reduces Transforming Growth Factor Beta and Smad Signaling in Thoracic Aortic Aneurysm. Ochsner J. 2013 Spring; 13(1): 42-48.
93. Heldin C.H., Miyazono K., ten Dijke P.: TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature 1997; 390(6659): 465-471.
94. Alegret J.M., Ligero C., Vernis J.M. et al.: Factors related to the need for surgery after the diagnosis of bicuspid aortic valve: one center´s experience under a conservative approach. Int. J. Med. Sci. 2013; 10(2): 176-182.
95. Ladouceur M., Fermanian C., Lupoglazoff J.M. et al.: Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. Am. J. Cardiol. 2007; 99(3): 406-409.
96. Habashi J.P., Judge D.P., Holm T.M. et al.: Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312(5770): 117-121.
97. Selamet Tierney E.S., Feingold B., Printz B.F. et al.: Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J. Pediatr. 2007; 150(1): 77-82.
98. Radonic T., de Witte P., Baars M.J. et al.; COMPARE study group. Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial. Trials 2010 Jan 12; 11:3.
99. Hamilton Health Sciences Corporation, “Beta blockers and angiotensin receptor blockers in bicuspid aortic valve disease aortopathy (BAV Study),” in ClinicalTrials.Gov, National Library of Medicine (US), Bethesda, Md, USA, 2000.
100. Otto C.M.: Calcification of bicuspid aortic valves. Heart 2002; 88(4): 321-322.
101. 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(4): 322-327.
102. Mautner G.C., Mautner S.L., Cannon R.O. 3rd et al.: Clinical factors useful in predicting aortic valve structure in patients > 40 years of age with isolated valvular aortic stenosis. Am. J. Cardiol. 1993; 72(2): 194-198.
103. Leung M.P., McKay R., Smith A. et al.: Critical aortic stenosis in early infancy. Anatomic and echocardiographic substrates of successful open valvotomy. J. Thorac. Cardiovasc. Surg. 1991; 101(3): 526-535.
104. Yotsumoto G., Moriyama Y., Toyohira H. et al.: Congenital bicuspid aortic valve: analysis of 63 surgical cases. J. Heart Valve Dis. 1998; 7(5): 500-503.
105. Mishima T., Yamamoto K., Sugimoto T. et al.: Severe aortic regurgitation resulting from a downward displacement of anterior aortic annulus and fibrous strands in the bicuspid aortic valve. Ann. Thorac. Cardiovasc. Surg. 2010; 16(1): 57-59.
106. Tzemos N., Therrien J., Yip J. et al.: Outcomes in adults with bicuspid aortic valves. JAMA. 2008 Sep 17; 300(11):1317-25.
107. Lamas C.C., Eykyn S.J.: Bicuspid aortic valve – A silent danger: analysis of 50 cases of infective endocarditis. Clin. Infect Dis. 2000; 30(2): 336-341
2. Mordi I., Tzemos N.: Bicuspid aortic valve disease: a comprehensive review. Cardiol. Res Pract. 2012; 2012:196037.
3. Lewis T., Grant R.T.: Observations relating to subacute infective endocarditis. Heart 1923; 10: 21-99.
4. Wauchope G.: The clinical importance of variations in the number of cusps forming the aortic and pulmonary valves. Quarterly Journal of Medicin 1928; 21: 383-399.
5. Roberts W.C.: The congenitally bicuspid aortic valve. A study of 85 autopsy cases. American Journal of Cardiology 1970; 26(1): 72-83.
6. Larson W., Edwards W.D.: Risk factors for aortic dissection: a necropsy study of 161 cases. American Journal of Cardiology 1984; 53(6): 849-855.
7. Datta N., Bhusnurmath B., Khattri H.N. et al.: Anatomically isolated aortic valve disease. Morphologic study of 100 cases at autopsy. Japanese Heart Journal 1988; 29(5): 661-670.
8. Pauperio M., Azevedo A.C., Ferreira C.S.: The aortic valve with two leaflets – a study in 2,000 autopsies. Cardiology in the Young 1999; 9(5): 488-498.
9. Basso C., Boschello M., Perrone C. et al.: An echocardiographic survey of primary school children for bicuspid aortic valve. American Journal of Cardiology 2004; 93(5): 661-663.
10. Tutar E., Ekici F., Atalay S. et al.: The prevalence of bicuspid aortic valve in newborns by echocardiographic screening. American Heart Journal 2005; 150(3): 513-515.
11. Nistri S., Basso C., Marzari C. et al.: Frequency of bicuspid aortic valve in young male conscripts by echocardiogram. American Journal of Cardiology 2005; 96(5): 718-721.
12. Gray G.W., Salisbury D.A., Gulino A.M.: Echocardiographic and color flow Doppler findings in military pilot applicants. Aviat. Space Environ Med. 1995; 66(1): 32-34.
13. Huntington K., Hunter A.G., Chan K.L.: A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J. Am. Coll. Cardiol. 1997; 30(7): 1809-1812.
14. Brickner M.E., Hillis L.D., Lange R.A.: Congenital heart disease in adults First of two parts. N. Engl. J. Med. 2000; 342(4): 256-263.
15. Duran A.C., Frescura C., Sans-Coma V. et al.: Bicuspid aortic valves in hearts with other congenital heart disease. J. Heart Valve Dis. 1995; 4(6): 581-590.
16. Yuan S.M., Jing H.: The bicuspid aortic valve and related disorders. Sao Paulo Med. J. 2010; 128(5): 296-301.
17. Brenner J.I., Berg K.A., Schneider D.S. et al.: Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome. Am. J. Dis. Child. 1989; 143(12): 1492-1494.
18. Siu S.C., Silversides C.K.: Bicuspid aortic valve disease. J. Am. Coll. Cardiol. 2010; 55(25): 2789-2800.
19. Hinton R.B. Jr, Martin L.J., Tabangin M.E. et al.: Hypoplastic left heart syndrome is heritable. J. Am. Coll. Cardiol. 2007; 50(16): 1590-1595.
20. Roberts W.C., Zafar S., Ko J.M. et al.: Combined congenitally bicuspid aortic valve and mitral valve prolapse causing pure regurgitation. Proc (Bayl. Univ. Med. Cent). 2013; 26(1): 30-32.
21. Iqbal M.Z., Eybel C.E., Messer J.V.: Mitral valve prolapse associated with bicuspid aortic valve. Cardiovasc. Rev. Rep. 1980; 1: 465-468.
22. Chisholm J.C.: Mitral valve prolapse syndrome associated with congenital bicuspid aortic valve. J. Natl. Med. Assoc. 1981; 73(10): 921-923.
23. Gungor B., Alper A.T., Celebi A., Bolca O.: Sinus node dysfunction as the first manifestation of left ventricular noncompaction with multiple cardiac abnormalities. Indian Pacing Electrophysiol. J. 2013; 13(4): 157-161.
24. Roos-Hesselink J.W., Schölzel B.E., Heijdra R.J. et al.: Aortic valve and aortic arch pathology after coarctation repair. Heart. 2003; 89(9): 1074-1077.
25. Braverman A.C., Güven H., Beardslee M.A. et al.: The bicuspid aortic valve. Curr. Probl. Cardiol. 2005; 30(9): 470-522.
26. Padang R., Bagnall R.D., Semsarian C.: Genetic basis of familial valvular heart disease. Circ. Cardiovasc. Genet. 2012; 5(5): 569-580.
27. Roberts W.C., Morrow A.G., Braunwald E.: Complete interruption of the aortic arch. Circulation 1962; 26: 39-59.
28. Bolling S.F., Iannettoni M.D., Dick M. et al.: Shone’s anomaly: operative results and late outcome. Ann. Thorac. Surg. 1990; 49(6): 887-893.
29. Popescu B.A., Jurcut R., Serban M. et al.: Shone’s syndrome diagnosed with echocardiography and confirmed at pathology. Eur. J. Echocardiogr. 2008; 9(6) 865-867.
30. Lopez-Rangel E., Maurice M., McGillivray B., Friedman J.M.: Williams syndrome in adults. Am. J. Med. Genet. 1992; 44(6): 720-729.
31. Higgins C.B., Wexler L.: Reversal of dominance of the coronary arterial system in isolated aortic stenosis and bicuspid aortic valve. Circulation 1975; 52(2): 292-296.
32. Stajic Z., Mijailovic Z.: Single coronary artery associated with severe bicuspid aortic valve stenosis. J. Saudi Heart Assoc. 2013; 25(4): 277-278.
33. Bartel H.: Embriologia medyczna. PZWL, Warszawa 2009: 154-170.
34. Roberts W.C.: Morphologic aspects of cardiac valve dysfunction. Am. Heart J. 1992; 123(6): 1610-1632.
35. Schaefer B.M., Lewin M.B., Stout K.K. et al.: The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape. Heart 2008; 94(12): 1634-1638.
36. Fernandes S.M., Sanders S.P., Khairy P. et al.: Morphology of bicuspid aortic valve in children and adolescents. J. Am. Coll. Cardiol. 2004; 44(8): 1648-1651.
37. Russo C.F., Cannata A., Lanfranconi M. et al.: Is aortic wall degeneration related to bicuspid aortic valve anatomy in patients with valvular disease? J. Thorac. Cardiovasc. Surg. 2008; 136(4): 937-942.
38. Ikonomidis J.S., Ruddy J.M., Benton S.M. Jr et al.: Aortic dilatation with bicuspid aortic valves: cusp fusion correlates to matrix metalloproteinases and inhibitors. Ann. Thorac. Surg. 2012; 93(2): 457-463.
39. Forteza A., Vera F., Centeno J. et al.: Preservation of the bicuspid aortic valve associated with aneurysms of the aortic root and ascending aorta. Rev. Esp. Cardiol. 2013; 66(8): 644-648.
40. Sabet H.Y., Edwards W.D., Tazelaar H.D., Daly R.C.: 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(1): 14-26.
41. Foffa I., Ait Alì L., Panesi P. et al.: Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve. BMC Med. Genet. 2013; 14: 44.
42. Sverdlov A.L., Ngo D.T., Chapman M.J. et al.: Pathogenesis of aortic stenosis: not just a matter of wear and tear. Am. J. Cardiovasc. Dis. 2011; 1(2): 185-199.
43. Laforest B., Andelfinger G., Nemer M.: Loss of Gata5 in mice leads to bicuspid aortic valve. J. Clin. Invest. 2011; 121(7): 2876-2887.
44. Chan K.L., Stinson W.A., Veinot J.P.: Reliability of transthoracic echocardiography in the assessment of aortic valve morphology: pathological correlation in 178 patients. Can. J. Cardiol. 1999; 15(1): 48-52.
45. Fernández B., Durán A.C., Fernández-Gallego T. et al.: Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities. J. Am. Coll. Cardiol. 2009; 54(24): 2312-2318.
46. Calloway T.J., Martin L.J., Zhang X. et al.: Risk factors for aortic valve disease in bicuspid aortic valve: a family-based study. Am. J. Med. Genet. A 2011; 155A(5): 1015-1020.
47. Girdauskas E., Disha K., Borger M.A., Kuntze T.: Relation of bicuspid aortic valve morphology to the dilatation pattern of the proximal aorta: focus on the transvalvular flow. Cardiol. Res Pract. 2012; 2012:478259.
48. Barker A.J., 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(4): 457-466.
49. Padang R., Bagnall R.D., Richmond D.R. et al.: Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. J. Mol. Cell. Cardiol. 2012; 53(2): 277-281.
50. Thomas P.S., Sridurongrit S., Ruiz-Lozano P., Kaartinen V.: Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development. PLoS One 2012; 7(4): e35539.
51. 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(4): 895-899.
52. Baron M.: An overview of the Notch signalling pathway. Semin. Cell Dev. Biol. 2003; 14(2): 113-119.
53. Iso T., Hamamori Y., Kedes L.: Notch signaling in vascular development. Arterioscler. Thromb Vasc. Biol. 2003; 23(4): 543-553.
54. Acharya A., Hans C.P., Koenig S.N. et al.: Inhibitory role of Notch1 in calcific aortic valve disease. PLoS One 2011; 6(11): e27743.
55. Abdulkareem N., Smelt J., Jahangiri M.: Bicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapy. Interact. Cardiovasc. Thorac. Surg. 2013; 17(3): 554-559.
56. Zegdi R., Ciobotaru V., Huerre C. et al.: Detecting aortic valve bicuspidy in patients with severe aortic valve stenosis: high diagnostic accuracy of colour Doppler transoesophageal echocardiography. Interact. Cardiovasc. Thorac. Surg. 2013; 16(1): 16-20.
57. Espinal M., Fuisz A.R., Nanda N.C. et al.: Sensitivity and specificity of transesophageal echocardiography for determination of aortic valve morphology. Am. Heart J. 2000; 139(6): 1071-1076.
58. Malaisrie S.C., Carr J., Mikati I. et al.: Cardiac magnetic resonance imaging is more diagnostic than 2-dimensional echocardiography in determining the presence of bicuspid aortic valve. J. Thorac. Cardiovasc. Surg. 2012; 144(2): 370-376.
59. Piccoli G., Slavich G., Gianfagna P., Gasparini D.: Cardiovascular flashlight Cleft bicuspid aortic valve: the Achilles’ heel of echocardiography? Eur. Heart J. 2010; 31(17): 2140.
60. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease:
executive summary. 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.
61. Demir M.: Left ventricular systolic and diastolic function in subjects with a bicuspid aortic valve without significant valvular dysfunction. Exp. Clin. Cardiol. 2013; 18(1): e1-4.
62. 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(3): 397-404.
63. Beroukhim R.S., Kruzick T.L., Taylor A.L. et al.: Progression of aortic dilation in children with a functionally normal bicuspid aortic valve. Am. J. Cardiol. 2006; 98(6): 828-830.
64. 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(2): 292-294.
65. La Canna G., Ficarra E., Tsagalau E. et al.: Progression rate of ascending aortic dilation in patients with normally functioning bicuspid and tricuspid aortic valves. Am. J. Cardiol. 2006; 98(2): 249-253.
66. Keane M.G., Wiegers S.E., Plappert T. et al.: Bicuspid aortic valves are associated with aortic dilatation out of proportion to coexistent valvular lesions. Circulation 2000; 102(19 Suppl. 3): III35-9.
67. Michelena H.I., Khanna A.D., Mahoney D. et al.: Incidence of aortic complications in patients with bicuspid aortic valves. JAMA 2011; 306(10): 1104-1112.
68. Hinton R.B.: Bicuspid aortic valve and thoracic aortic aneurysm: three patient populations, two disease phenotypes, and one shared genotype. Cardiol. Res Pract. 2012; 2012:926975.
69. Robicsek F., Thubrikar M.J., Cook J.W., Fowler B.: The congenitally bicuspid aortic valve: how does it function? Why does it fail? Ann. Thorac. Surg. 2004; 77(1): 177-185.
70. Della Corte A., Bancone C., Conti C.A. et al.: Restricted cusp motion in right-left type of bicuspid aortic valves: a new risk marker for aortopathy. J. Thorac. Cardiovasc. Surg. 2012; 144(2): 360-369, 369.e1.
71. Hope M.D., Hope T.A., Crook S.E. et al.: 4D flow CMR in assessment of valve-related ascending aortic disease. JACC Cardiovasc. Imaging 2011; 4(7): 781-787.
72. den Reijer P.M., Sallee D. 3rd, van der Velden P et al.: Hemodynamic predictors of aortic dilatation in bicuspid aortic valve by velocity-encoded cardiovascular magnetic resonance. J. Cardiovasc. Magn. Reson. 2010 Jan 13; 12:4.
73. Hope M.D., Wrenn J., Sigovan M. et al.: Imaging biomarkers of aortic disease: increased growth rates with eccentric systolic flow. J. Am. Coll. Cardiol. 2012; 60(4): 356-357.
74. Fazel S.S., Mallidi H.R., Lee R.S. et al.: The aortopathy of bicuspid aortic valve disease has distinctive patterns and usually involves the transverse aortic arch. J. Thorac. Cardiovasc. Surg. 2008; 135(4): 901-907, 907.e1-2.
75. Tadros T.M., Klein M.D., Shapira O.M.: Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119(6): 880-890.
76. Bonderman D., Gharehbaghi-Schnell E., Wollenek G. et al.: Mechanisms underlying aortic dilatation in congenital aortic valve malformation. Circulation 1999; 99(16): 2138-2143.
77. Gurvitz M., Chang R.K., Drant S., Allada V.: Frequency of aortic root dilation in children with a bicuspid aortic valve. Am. J. Cardiol. 2004; 94(10): 1337-1340.
78. Holmes K.W., Lehmann C.U., Dalal D. et al.: Progressive dilation of the ascending aorta in children with isolated bicuspid aortic valve. Am. J. Cardiol. 2007; 99(7): 978-983.
79. Fernandes S., Khairy P., Graham D.A. et al.: Bicuspid aortic valve and associated aortic dilation in the young. Heart 2012; 98(13): 1014-1019.
80. Russo C.F., Mazzetti S., Garatti A. et al.: Aortic complications after bicuspid aortic valve replacement: long-term results. Ann. Thorac. Surg. 2002; 74(5): S1773-1776; discussion S1792-1799.
81. Borger M.A., 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(5): 677-683.
82. Novaro G.M., Tiong I.Y., Pearce G.L. et al.: Features and predictors of ascending aortic dilatation in association with a congenital bicuspid aortic valve. Am. J. Cardiol. 2003; 92(1): 99-101.
83. Fedak P.W., de Sa M.P., Verma S. et al.: Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. J. Thorac. Cardiovasc. Surg. 2003; 126(3): 797-806.
84. Kutty S., Kaul S., Danford C.J., Danford D.A.: Main pulmonary artery dilation in association with congenital bicuspid aortic valve in the absence of pulmonary valve abnormality. Heart 2010; 96(21): 1756-1761.
85. Paes Leme M.: Molecular evaluation of the great vessels of patients with bicuspid aortic Valle disease. Rev. Bras. Cir. Cardiovasc. 2003; 18: 148-156.
86. de Sa M., Moshkovitz Y., Butany J., David T.E.: 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(4): 588-594.
87. Losenno K.L., Goodman R.L., Chu M.W.: Bicuspid aortic valve disease and ascending aortic aneurysms: gaps in knowledge. Cardiol. Res Pract. 2012; 2012: 145202.
88. Wilton E., Bland M., Thompson M., Jahangiri M.: Matrix metalloproteinase expression in the ascending aorta and aortic valve. Interact. Cardiovasc. Thorac. Surg. 2008; 7(1): 37-40.
89. LeMaire S.A., Wang X., Wilks J.A. et al.: Matrix metalloproteinases in ascending aortic aneurysms: bicuspid versus trileaflet aortic valves. J. Surg. Res. 2005; 123(1): 40-48.
90. Abaci O., Kocas C., Kilickesmez K.O. et al.: Matrix metalloproteinase-2 and -9 levels in patients with dilated ascending aorta and bicuspid aortic valve. Echocardiography 2013; 30(2): 121-126.
91. Wågsäter D., Paloschi V., Hanemaaijer R. et al.: Impaired collagen biosynthesis and cross-linking in aorta of patients with bicuspid aortic valve. J. Am. Heart Assoc. 2013 Feb 14; 2(1): e000034
92. Nataatmadja M., West J., Prabowo S., West M.: Angiotensin II Receptor Antagonism Reduces Transforming Growth Factor Beta and Smad Signaling in Thoracic Aortic Aneurysm. Ochsner J. 2013 Spring; 13(1): 42-48.
93. Heldin C.H., Miyazono K., ten Dijke P.: TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature 1997; 390(6659): 465-471.
94. Alegret J.M., Ligero C., Vernis J.M. et al.: Factors related to the need for surgery after the diagnosis of bicuspid aortic valve: one center´s experience under a conservative approach. Int. J. Med. Sci. 2013; 10(2): 176-182.
95. Ladouceur M., Fermanian C., Lupoglazoff J.M. et al.: Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. Am. J. Cardiol. 2007; 99(3): 406-409.
96. Habashi J.P., Judge D.P., Holm T.M. et al.: Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312(5770): 117-121.
97. Selamet Tierney E.S., Feingold B., Printz B.F. et al.: Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J. Pediatr. 2007; 150(1): 77-82.
98. Radonic T., de Witte P., Baars M.J. et al.; COMPARE study group. Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial. Trials 2010 Jan 12; 11:3.
99. Hamilton Health Sciences Corporation, “Beta blockers and angiotensin receptor blockers in bicuspid aortic valve disease aortopathy (BAV Study),” in ClinicalTrials.Gov, National Library of Medicine (US), Bethesda, Md, USA, 2000.
100. Otto C.M.: Calcification of bicuspid aortic valves. Heart 2002; 88(4): 321-322.
101. 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(4): 322-327.
102. Mautner G.C., Mautner S.L., Cannon R.O. 3rd et al.: Clinical factors useful in predicting aortic valve structure in patients > 40 years of age with isolated valvular aortic stenosis. Am. J. Cardiol. 1993; 72(2): 194-198.
103. Leung M.P., McKay R., Smith A. et al.: Critical aortic stenosis in early infancy. Anatomic and echocardiographic substrates of successful open valvotomy. J. Thorac. Cardiovasc. Surg. 1991; 101(3): 526-535.
104. Yotsumoto G., Moriyama Y., Toyohira H. et al.: Congenital bicuspid aortic valve: analysis of 63 surgical cases. J. Heart Valve Dis. 1998; 7(5): 500-503.
105. Mishima T., Yamamoto K., Sugimoto T. et al.: Severe aortic regurgitation resulting from a downward displacement of anterior aortic annulus and fibrous strands in the bicuspid aortic valve. Ann. Thorac. Cardiovasc. Surg. 2010; 16(1): 57-59.
106. Tzemos N., Therrien J., Yip J. et al.: Outcomes in adults with bicuspid aortic valves. JAMA. 2008 Sep 17; 300(11):1317-25.
107. Lamas C.C., Eykyn S.J.: Bicuspid aortic valve – A silent danger: analysis of 50 cases of infective endocarditis. Clin. Infect Dis. 2000; 30(2): 336-341