How to cite this article: Hor KN, Border WL, Cripe LH, Benson DW, Hinton RB. 2008. The presence of bicuspid aortic valve does not predict ventricular septal defect type. Am J Med Genet Part A 146A:3202–3205.
The presence of bicuspid aortic valve does not predict ventricular septal defect type†
Version of Record online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3202–3205, 15 December 2008
How to Cite
Hor, K. N., Border, W. L., Cripe, L. H., Benson, D. W. and Hinton, R. B. (2008), The presence of bicuspid aortic valve does not predict ventricular septal defect type. Am. J. Med. Genet., 146A: 3202–3205. doi: 10.1002/ajmg.a.32609
- Issue online: 21 NOV 2008
- Version of Record online: 14 NOV 2008
- Manuscript Accepted: 17 SEP 2008
- Manuscript Received: 8 NOV 2007
- National Institutes of Health. Grant Numbers: HL069712, HL074728, HD43005, HL085122
- cardiac development;
- congenital heart disease
Previous studies have identified an increased incidence of bicuspid aortic valve (BAV) in patients with ventricular septal defect (VSD). Because endocardial cushion remodeling contributes to both the formation of semilunar valves and ventricular septation, we hypothesized that examination of humans with BAV and VSD would identify a specific VSD type. We evaluated VSD type in pediatric patients diagnosed with BAV and VSD (n = 82) and compared findings to patients diagnosed with VSD and normal aortic valve morphology (n = 429). VSD type was described as conoventricular, muscular, inlet or conoseptal using a clinical taxonomy. Based on the contribution of the outflow tract endocardial cushions to the membranous ventricular septum, we expected patients with BAV to have conoventricular VSD. In both patient groups, conoventricular VSD was most common; however, the prevalence was not significantly different when BAV patients were compared to those with normal aortic valve morphology (67% vs. 57%, P = 0.11). The primary finding of this study is that despite a developmental link between semilunar valve formation and ventricular septation during cardiogenesis, there is no clear association between BAV and VSD type. This may be due to phenotypic and genetic heterogeneity of BAV and VSD, other modifying factors as manifested by differences in associated CVM, as well as limitations of the clinical taxonomy of VSD. © 2008 Wiley-Liss, Inc.