Esophageal atresia and tracheoesophageal fistula

Abstract

The term congenital atresia of the esophagus describes a large group of variant malformations that share a defect of the esophageal continuity with or without a fi stula to the trachea or to the bronchi. It is one of the most life-threatening anomalies in a newborn baby and the quality of survival depends on early diagnosis and appropriate therapy. The first successful surgery of a 12-day-old female baby was performed by Cameron Haight at the University of Michigan in 1941. Now an adult, this patient gave birth to a newborn that suffered again from esophageal atresia that was successfully operated on at the same institution by Arnold Coran. The history of surgical therapy of babies with esophageal atresia after Cameron Haight is a story of success starting with survival rates around 50%, but reaching nearly 100% today when associated life-threatening malformations are excluded. The mainstays of this success are appropriate diagnosis and preoperative therapy, reconstruction of the esophageal continuity with closure of an existing fi stula, or esoph-ageal replacement if necessary. The incidence of an esophageal atresia with or without a fi stula is approximately 1 in 3,000 to 4,500 births with a slight preponderance of males in the ratio of 3:2. Most cases occur sporadically. The high number of associated anomalies points to a very early disturbance of the developing embryo. A number of risk factors such as environmental teratogens are discussed in the literature including exposure to thalidomide, contraceptive pills, hormones, and endocrine diseases of the mother. Additionally, there is ample evidence that the anomaly can be genetically determined in some cases: fi rst, chromosomal anomalies occur in 6-10% of all cases including Trisomy 13 and 18; second, a large number of different syndromes have been reported in association with esophageal atresia; and finally the recurrence risk in a second child of parents with one affected child is around 0.5-2.0%, and the risk for a newborn born from an affected parent is around 3.0-4.0%. However, since most of the esophageal atresia occur sporadically, there is most likely a heterogeneous and multifactorial pathogenesis involving different or multiple genes and signaling pathways. © 2009 Springer Berlin Heidelberg.