Abstract
Duodenal atresia is associated with a wide variety of congenital malformations. Trisomy 21 occurs in approximately one-thirds of infants with duodenal atresia. Congenital heart disease in patients with trisomy 21 and duodenal atresia is well known. However, the frequency and spectrum of congenital heart defects in infants with duodenal atresia and a normal karyotype has not been outlined in the literature. Therefore, we conducted a retrospective chart review to clarify our knowledge about this population. Retrospective review of the medical record was performed on patients with duodenal atresia/stenosis from January 1995 to September 2007. Demographic data included birth weight and gestational age. Variables of interest included cardiac defects and karyotype. Surgical repair for duodenal and cardiac malformations were reviewed. Ninety-four patients with duodenal atresia/stenosis were identified. Average gestational age was 36 weeks and birth weight was 2,536 g. Trisomy 21 was identified in 39 (41%) patients. Overall, 37 patients (39.3%) had a congenital heart defect. Defects were identified in 24 (61.5%) patients with trisomy 21, when compared to 13 (23.6%) patients with a normal karyotype. Of the patients with congenital heart defects and trisomy 21, 11 (28.2%) required operative repair compared to the 6 (10.9%) patients with a defect and normal karyotype. Therefore, in patients with duodenal atresia, the presence of trisomy 21 carries a relative risk of 2.61 for congenital heart defects, and relative risk of 2.59 for open heart surgery. In patients with duodenal atresia, the presence of trisomy 21 carries a 2.5-fold increased risk of cardiac defect and the same increased risk for repairing a cardiac defect.
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Millar AJW, Rode H, Cywes S (2005) Intestinal atresia and stenosis. In: Ashcraft K, Holcomb GW 3rd, Murphy JP (eds) Pediatric Surgery, 4th edn. Elsevier Saunders, Phildelphia, pp 416–434
Fonkalsrud EW, deLorimier AA, Hays DM (1969) Congenital atresia and stenosis of the duodenum: a review compiled from the members of the surgical section of the American Academy of Pediatrics. Pediatrics 43:79
Kallen B, Mastroiacovo P, Robert E (1996) Major congenital malformations in Down’s syndrome. Am J Med Genet 65:160–166. doi:10.1002/(SICI)1096-8628(19961016)65:2<160::AID-AJMG16>3.0.CO;2-O
Dalla Vecchia LK, Grosfeld JL, West KW, Rescola FJ, Scherer LR, Engum SA (1998) Intestinal atresia and stenosis. A 25-year experience with 277 cases. Arch Surg 133:490–497. doi:10.1001/archsurg.133.5.490
Kimble RM, Harding J, Kolbe A (1997) Additional congenital anomalies in babies with gut atresia or stenosis: when to investigate, and which investigation. Pediatr Surg Int 12:565–570. doi:10.1007/BF01371900
Stoll C, Alembik Y, Dott B, Roth MP (1998) Study of Down syndrome in 238, 942 consecutive births. Ann Genet 41:44–51
Bailey PV, Tracy TF Jr, Connors RH, Mooney DP, Lewis E, Weber TR (1993) Congenital duodenal obstruction: a 32-year review. J Pediatr Surg 28:92–95. doi:10.1016/S0022-3468(05)80364-1
Greenwood RD (1976) Patterns of gastrointestinal and cardiac malformations. J Pediatr Surg 11:1023. doi:10.1016/S0022-3468(76)80084-X
Park SC, Mathews RA, Zuberbuhler JR, Rowe RD, Neches WH, Lenox CC (1977) Down syndrome with congenital heart malformation. Am J Dis Child 131:29–33
Barlow GM, Chen XN, Shi ZY, Lyons GE, Kurnit DM, Celle L et al (2001) Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet Med 3:91–101. doi:10.1097/00125817-200103000-00002
Moe DG, Guntheroth WG (1987) Spontaneous closure of uncomplicated ventricular septal defect. Am J Cardiol 60:674–678. doi:10.1016/0002-9149(87)90380-8
Mehta AV, Chidambaram B (1992) Ventricular septal defect in the first year of life. Am J Cardiol 70:364–366. doi:10.1016/0002-9149(92)90620-E
Radzik D, Davignon A, van Doesburg N, Fournier A, Marchand T, Ducharme G (1993) Predictive factors for spontaneous closure of atrial septal defects diagnosed in the first 3 months of life. J Am Coll Cardiol 22:851–853
Helgason H, Jonsdottir G (1999) Spontaneous closure of atrial septal defects. Pediatr Cardiol 20:195–199. doi:10.1007/s002469900439
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Keckler, S.J., Peter, S.D.S., Spilde, T.L. et al. The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia. Pediatr Surg Int 24, 921–923 (2008). https://doi.org/10.1007/s00383-008-2185-x
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DOI: https://doi.org/10.1007/s00383-008-2185-x