Journal of Surgical Research
Volume 142, Issue 1 , Pages 28-31 , September 2007

Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve

  • Jay W. Ellison, M.D., Ph.D.

      Affiliations

    • Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota
    • ,
  • Marineh Yagubyan, M.D.

      Affiliations

    • Department of Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
    • ,
  • Ramanath Majumdar, Ph.D.

      Affiliations

    • Division of Cardiovascular Surgery, Department of Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
    • ,
  • Gobinda Sarkar, Ph.D.

      Affiliations

    • Department of Orthopedic Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
    • ,
  • Mark E. Bolander, M.D.

      Affiliations

    • Department of Orthopedic Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
    • ,
  • Elizabeth J. Atkinson, M.S.

      Affiliations

    • Department of Biostatistics, Mayo Clinic College of Medicine, Rochester, Minnesota
    • ,
  • Maurice E. Sarano, M.D.

      Affiliations

    • Division of Cardiology, Department of Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota
    • ,
  • Thoralf M. Sundt, M.D.

      Affiliations

    • Division of Cardiovascular Surgery, Department of Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
    • Corresponding Author InformationTo whom correspondence and reprint requests should be addressed at Mayo Clinic College of Medicine, Division of Cardiovascular Surgery, 200 First St. SW, Rochester, MN 55905.

Received 28 March 2006

References 

  1. Roberts WC. The congenitally bicuspid aortic valve (A study of 85 autopsy cases). Am J Cardiol. 1970;26:72
  2. Passik CS, Ackermann DM, Pluth JR, et al. Temporal changes in the causes of aortic stenosis: A surgical pathological study of 646 cases. Mayo Clin Proc. 1987;62:119
  3. Hahn RT, Roman MJ, Mogtader AH, et al. Association of aortic dilation with regurgitant, stenotic, and functionally normal bicuspid aortic valves. J Am Coll Cardiol. 1992;19:283
  4. Nkomo VT, Enriquez-Sarano M, Ammash NM, et al. Bicuspid aortic valve associated with aortic dilatation: A community-based study. Arterioscler Thromb Vasc Biol. 2003;23:351
  5. Yasuda H, Nakatani S, Stugaard M, et al. Failure to prevent progressive dilation of ascending aorta by aortic valve replacement in patients with bicuspid aortic valve: Comparison with tricuspid aortic valve. Circulation Suppl 1:II291.
  6. McDonald K, Maurer BJ. Familial aortic valve disease: Evidence for a genetic influence?. Eur Heart J. 1989;10:676
  7. Glick BN, Roberts WC. Congenitally bicuspid aortic valve in multiple family members. Am J Cardiol. 1994;73:400
  8. Huntington K, Hunter AGW, Chan K-L. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol. 1997;30:1809
  9. Emanuel R, Withers R, O’Brien K, et al. Congenitally bicuspid aortic valve: Clinicogenetic study of 41 families. Br Heart J. 1978;40:1402
  10. Cripe L, Andelfinger G, Martin LJ, et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol. 2004;44:138
  11. Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature. 2005;437:270
  12. Goh DL, Han LF, Judge DP, et al. Linkage of familial bicuspid aortic valve with aortic aneurysm to chromosome 15q. Am J Hum Genet Suppl. 2002;71:11;(Abstr)
  13. Guo D, Hasham S, Kuang SQ, et al. Familial thoracic aortic aneurysms and dissections: Genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 2001;103:2461
  14. Vaughan CJ, Casey M, He J, et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001;103:2469
  15. 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
  16. Russo CR, Mazzetti S, Garatti A, et al. Aortic complications after bicuspid aortic valve replacement: Long-term results. Ann Thorac Surg. 2002;74:S1773
  17. Sundt TM, Mora BN, Moon MR, et al. Options for repair of a bicuspid aortic valve and ascending aortic aneurysm. Ann Thor Surg. 2000;69:1333
  18. 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;128:677

PII: S0022-4804(06)00593-2

doi: 10.1016/j.jss.2006.04.040

Journal of Surgical Research
Volume 142, Issue 1 , Pages 28-31 , September 2007

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