Absence of TGFBR1 and TGFBR2 Mutations in Patients With Bicuspid Aortic Valve and Aortic Dilation

American Journal of Cardiology

Volumn 102, Issue 5, 2008, Pages 629-631

  Arrington, Cammon B ^a   Sower, C Todd ^a   Chuckwuk, Naomi ^a   Stevens, Jeff ^a   Leppert, Mark F ^a   Yetman, Anji T ^a   Bowles, Neil E ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BICUSPID AORTIC VALVE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; INTRON; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1 GENE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2 GENE;

ADOLESCENT; ADULT; AORTA, THORACIC; AORTIC VALVE; CHILD; CHILD, PRESCHOOL; DILATATION, PATHOLOGIC; DNA; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA;

EID: 51749096139     PISSN: 00029149     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.amjcard.2008.04.044     Document Type: Article

References (13)

1. National Center for Biotechnology Information. Online Mendelian Inheritance in Man #109730: aortic valve disease. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109730 Accessed February 21, 2008
2. Roberts W.C. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 26 (1970) 72-83
3. Garg V., Muth A.N., Ransom J.F., Schluterman M.K., Barnes R., King I.N., Grossfeld P.D., and Srivastava D. Mutations in NOTCH1 cause aortic valve disease. Nature 437 (2005) 270-274
4. McKellar S.H., Tester D.J., Yagubyan M., Majumdar R., Ackerman M.J., and Sundt III T.M. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg 134 (2007) 290-296
5. Loeys B.L., Chen J., Neptune E.R., Judge D.P., Podowski M., Holm T., Meyers J., Leitch C.C., Katsanis N., Sharifi N., et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37 (2005) 275-281
6. Loscalzo M.L., Goh D.L., Loeys B., Kent K.C., Spevak P.J., and Dietz H.C. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A 143 (2007) 1960-1967
7. Wittwer C.T., Reed G.H., Gundry C.N., Vandersteen J.G., and Pryor R.J. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 49 (2003) 853-860
8. Reed G.H., and Wittwer C.T. Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin Chem 50 (2004) 1748-1754
9. Liew M., Pryor R., Palais R., Meadows C., Erali M., Lyon E., and Wittwer C. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem 50 (2004) 1156-1164
10. Palais R.A., Liew M.A., and Wittwer C.T. Quantitative heteroduplex analysis for single nucleotide polymorphism genotyping. Anal Biochem 346 (2005) 167-175
11. Daubeney P.E., Blackstone E.H., Weintraub R.G., Slavik Z., Scanlon J., and Webber S.A. Relationship of the dimension of cardiac structures to body size: an echocardiographic study in normal infants and children. Cardiol Young 9 (1999) 402-410
12. Hanseus K., Bjorkhem G., and Lundstrom N.R. Dimensions of cardiac chambers and great vessels by cross-sectional echocardiography in infants and children. Pediatr Cardiol 9 (1988) 7-15
13. Armstrong E.J., and Bischoff J. Heart valve development: endothelial cell signaling and differentiation. Circ Res 95 (2004) 459-470