Anatomy in Patients with 22q11 Deletion and Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals
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Abstract
We performed a retrospective analysis of patients with and without 22q11 deletion undergoing surgery for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals between January 2004 and August 2009 at our institutions. Information was collected on collateral origin, arch sidedness, presence of central pulmonary arteries, and presence of an aberrant subclavian vessel. While patients with 22q11 deletion were more likely to have collateral origin from brachiocephalic vessels, patients without 22q11 deletion were more likely to have collateral origin from the descending aorta. There was no significant difference in arch sidedness or the presence of central pulmonary arteries. Patients with 22q11 deletion were more likely to have an aberrant subclavian artery (15/46 vs 5/54, p < 0.05), whether a left or right arch was present. Nine of the fifteen 22q11 deletion patients had a collateral originating from an aberrant subclavian artery. In time, genomic and embryologic research may help determine the exact mechanisms by which 22q11 deletion contributes to the development of congenital heart disease such as pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals.
- L. A. Jerome and V. E. Papaioannou, “DiGeorge Syn-drome Phenotype in Mice Mutant for the T-Box Gene, Tbx1,” Nature Genetics, Vol. 27, No. 3, 2001, pp. 286-291. doi:10.1038/85845
- A. Baldini, “DiGeorge Syndrome: An Update,” Current Opinion in Cardiology, Vol. 19, No. 3, 2004, pp. 201-204. doi:10.1097/00001573-200405000-00002
- A. Baldini, “Dissecting Contiguous Gene Defects: TBX1,” Current Opinion in Genetics & Development, Vol. 15, No. 3, 2005, pp 279-284. doi:10.1016/j.gde.2005.03.001
- E. A. Lindsay, F. Vitelli, et al, “Tbx1 Haploinsufficieny in the DiGeorge Syndrome Region Causes Aortic Arch Defects in Mice,” Nature, Vol. 410, No. 6824, 2001, pp. 97-101. doi:10.1038/35065105
- T. Hu, H. Yamagishi, et al. “Tbx1 Regulates Fibroblast Growth Factors in the Anterior Heart Field through a Rein Forcing Autoregulatory Loop Involving Forkhead Transcrition Factors,” Development, Vol. 131, No. 21, 2004, pp. 5491-502. doi:10.1242/dev.01399
- R. G. Kelly and V. E. Papaioannou, “Visualization of Outflow Tract Development in the Absence of Tbx1 Using an FgF10 Enhancer Trap Transgene,” Developmental Dynamics, Vol. 236, No. 3, 2007, pp. 821-828. doi:10.1002/dvdy.21063
- F. Vitelli, M. Morishima, et al, “Tbx1 Mutation Causes Multiple Cardiovascular Defects and Disrupts Neural Crest and Cranial Nerve Migratory Pathways,” Human Molecular Genetics, Vol. 11, No. 8, 2002, pp. 915-922. doi:10.1093/hmg/11.8.915
- H. Xu, M. Morishima, et al, “Tbx1 has a Dual Role in the Morphogenesis of the Cardiac Outflow Tract,” Develop-ment, Vol. 131, No. 13, 2004, pp. 3217-3227. doi:10.1242/dev.01174
- Z. Zhang, T. Huynh, et al, “Mesodermal Expression of Tbx1 is Necessary and Sufficient for Pharyngeal Arch and Cardiac Outflow Tract Development,” Development Vol. 133, No. 18, 2006, pp. 3587-3595. doi:10.1242/dev.02539
- K. Momma, C. Kondo, et al, “Tetralogy of Fallot with Pulmonary Atresia Associated with Chromosome 22q11 Deletion,” Journal of the American College of Cardiology, Vol. 27, No. 1, 1996, pp. 198-202. doi:10.1016/0735-1097(95)00415-7
- M. Chessa, G. Butera, et al, “Relation of Genotype 22q11 Deletion to Phenotype of Pulmonary Vessels in Tetralogy of Fallot and Pulmonary Atresia-Ventricular Septal De-fect,” Heart, Vol. 79, No. 2, 1998, pp. 186-190.
- D. B. McElhinney, B. J. Clark, et al, “Association of Chromosome 22q11 Deletion with Isolated Anomalies of Aortic Arch Laterality and Branching,” Journal of the American College of Cardiology, Vol. 37, No. 8, 2001, pp. 2114-2119. doi:10.1016/S0735-1097(01)01286-4