Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve

Journal of Surgical Research

Volumn 142, Issue 1, 2007, Pages 28-31

  Ellison, Jay W ^a   Yagubyan, Marineh ^a   Majumdar, Ramanath ^a   Sarkar, Gobinda ^a   Bolander, Mark E ^a   Atkinson, Elizabeth J ^a   Sarano, Maurice E ^a   Sundt, Thoralf M ^a  

^a Mayo Clinic   (United States)

Author keywords

bicuspid aortic valve (BAV); cardiac surgery; genetics

Indexed keywords

DNA; NOTCH1 RECEPTOR;

AORTA VALVE DISEASE; ARTICLE; BICUSPID AORTIC VALVE; CHROMOSOME 15Q; CHROMOSOME 9Q; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENE; GENE LOCUS; GENETIC LINKAGE; HUMAN; MALE; MICROSATELLITE MARKER; NOTCH1 GENE; PEDIGREE; PRIORITY JOURNAL;

AORTIC VALVE; CARDIOVASCULAR ABNORMALITIES; CHROMOSOMES, HUMAN, PAIR 15; DNA; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MITRAL VALVE; PEDIGREE; RECEPTOR, NOTCH1;

EID: 34547936707     PISSN: 00224804     EISSN: 10958673     Source Type: Journal    
DOI: 10.1016/j.jss.2006.04.040     Document Type: Article

References (18)

1. Roberts W.C. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 26 (1970) 72
2. Passik C.S., Ackermann D.M., Pluth J.R., et al. Temporal changes in the causes of aortic stenosis: A surgical pathological study of 646 cases. Mayo Clin Proc 62 (1987) 119
3. Hahn R.T., Roman M.J., Mogtader A.H., et al. Association of aortic dilation with regurgitant, stenotic, and functionally normal bicuspid aortic valves. J Am Coll Cardiol 19 (1992) 283
4. Nkomo V.T., Enriquez-Sarano M., Ammash N.M., et al. Bicuspid aortic valve associated with aortic dilatation: A community-based study. Arterioscler Thromb Vasc Biol 23 (2003) 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., and Maurer B.J. Familial aortic valve disease: Evidence for a genetic influence?. Eur Heart J 10 (1989) 676
7. Glick B.N., and Roberts W.C. Congenitally bicuspid aortic valve in multiple family members. Am J Cardiol 73 (1994) 400
8. Huntington K., Hunter A.G.W., and Chan K.-L. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 30 (1997) 1809
9. Emanuel R., Withers R., O'Brien K., et al. Congenitally bicuspid aortic valve: Clinicogenetic study of 41 families. Br Heart J 40 (1978) 1402
10. Cripe L., Andelfinger G., Martin L.J., et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol 44 (2004) 138
11. Garg V., Muth A.N., Ransom J.F., et al. Mutations in NOTCH1 cause aortic valve disease. Nature 437 (2005) 270
12. Goh D.L., Han L.F., Judge D.P., et al. Linkage of familial bicuspid aortic valve with aortic aneurysm to chromosome 15q. Am J Hum Genet Suppl 71 (2002) 11 (Abstr)
13. Guo D., Hasham S., Kuang S.Q., et al. Familial thoracic aortic aneurysms and dissections: Genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 103 (2001) 2461
14. Vaughan C.J., Casey M., He J., et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 103 (2001) 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 95 (2005) 292
16. Russo C.R., Mazzetti S., Garatti A., et al. Aortic complications after bicuspid aortic valve replacement: Long-term results. Ann Thorac Surg 74 (2002) S1773
17. Sundt III T.M., Mora B.N., Moon M.R., et al. Options for repair of a bicuspid aortic valve and ascending aortic aneurysm. Ann Thor Surg 69 (2000) 1333
18. 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 128 (2004) 677