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22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
Approximately 60-80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B), conoventricular and/or atrial septal defects, and aor …
Approximately 60-80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, t …
One-stage repair of interrupted aortic arch, ventricular septal defect, and subaortic obstruction in the neonate: a novel approach.
Luciani GB, Ackerman RJ, Chang AC, Wells WJ, Starnes VA. Luciani GB, et al. J Thorac Cardiovasc Surg. 1996 Feb;111(2):348-58. doi: 10.1016/s0022-5223(96)70444-0. J Thorac Cardiovasc Surg. 1996. PMID: 8583808 Free article.
METHODS AND RESULTS: A new operative approach was used in nine neonates (2.1 to 3.9 kg) who underwent one-stage repair of interrupted aortic arch (type B, eight patients; type C, one patient), ventricular septal defect, and severe subaortic sten …
METHODS AND RESULTS: A new operative approach was used in nine neonates (2.1 to 3.9 kg) who underwent one-stage repair of interrupted …
Surgical management of aortopulmonary window associated with interrupted aortic arch: a Congenital Heart Surgeons Society study.
Konstantinov IE, Karamlou T, Williams WG, Quaegebeur JM, del Nido PJ, Spray TL, Caldarone CA, Blackstone EH, McCrindle BW; Congenital Heart Surgeons Society. Konstantinov IE, et al. J Thorac Cardiovasc Surg. 2006 May;131(5):1136-1141.e2. doi: 10.1016/j.jtcvs.2005.03.051. J Thorac Cardiovasc Surg. 2006. PMID: 16678601 Free article.
Reintervention for arch obstruction was more likely for those with interrupted aortic arch type B (P = .08) and for those with higher weight at initial repair (P = .003). ...
Reintervention for arch obstruction was more likely for those with interrupted aortic arch type B (P = .0 …
Hypoparathyroidism in conotruncal heart defects.
Koch A, Hofbeck M, Buheitel G, Dörr HG, Rauch A, Rauch R, Singer H. Koch A, et al. Eur J Pediatr. 2002 Apr;161(4):208-11. doi: 10.1007/s004310100818. Eur J Pediatr. 2002. PMID: 12014387
In Group I, complete hypoparathyroidism with low parathyroid hormone and hypocalcaemia occurred in seven patients; 5 patients had bilateral anomalies of the right and the left 4th aortic arch derivates. In addition to an interrupted aortic arch type …
In Group I, complete hypoparathyroidism with low parathyroid hormone and hypocalcaemia occurred in seven patients; 5 patients had bilateral …
Balloon dilation angioplasty of postoperative aortic obstructions.
Saul JP, Keane JF, Fellows KE, Lock JE. Saul JP, et al. Am J Cardiol. 1987 Apr 15;59(9):943-8. doi: 10.1016/0002-9149(87)91130-1. Am J Cardiol. 1987. PMID: 2952000
Previous operations included end-to-end anastomosis (n = 10), subclavian flap angioplasty (n = 7) and patch angioplasty (n = 3) for aortic coarctation, end-to-end anastomosis for interrupted aortic arch type B (n = 4) and aortic arch reconstruct …
Previous operations included end-to-end anastomosis (n = 10), subclavian flap angioplasty (n = 7) and patch angioplasty (n = 3) for aortic c …
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.
Goldmuntz E, Driscoll DA, Emanuel BS, McDonald-McGinn D, Mei M, Zackai E, Mitchell LE. Goldmuntz E, et al. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):125-9. doi: 10.1002/bdra.20501. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 18770859 Free PMC article.
Cardiovascular anomalies, including tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, perimembranous ventricular septal defects, and aortic arch anomalies, occur in approximately 75% of individuals with a 22q11.2 deletion. …
Cardiovascular anomalies, including tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B …
Maternal injuries during the periconceptional period and the risk of birth defects, National Birth Defects Prevention Study, 1997-2005.
Tinker SC, Reefhuis J, Dellinger AM, Jamieson DJ. Tinker SC, et al. Paediatr Perinat Epidemiol. 2011 Sep;25(5):487-96. doi: 10.1111/j.1365-3016.2011.01215.x. Epub 2011 Jul 21. Paediatr Perinat Epidemiol. 2011. PMID: 21819430
We used logistic regression to estimate adjusted odds ratios (AORs) and 95% confidence intervals (CI). Periconceptional injuries were associated with interrupted aortic arch type B [AOR = 5.2, 95% CI 1.2, 23.2]; atrioventricular septal defect [A …
We used logistic regression to estimate adjusted odds ratios (AORs) and 95% confidence intervals (CI). Periconceptional injuries were associ …
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM. Botto LD, et al. Pediatrics. 2003 Jul;112(1 Pt 1):101-7. doi: 10.1542/peds.112.1.101. Pediatrics. 2003. PMID: 12837874
Overall, the deletion contributed to at least 1 of every 68 cases of major heart defects identified in the total birth cohort and, in particular, to 1 of every 2 cases diagnosed with interrupted aortic arch type B, 1 of every 5 with truncus arte …
Overall, the deletion contributed to at least 1 of every 68 cases of major heart defects identified in the total birth cohort and, in partic …