1262 n Part XVIII The Digestive System

development; genital and/or urinary defects [hypogonadism]; ear anomalies and/or deafness) (CHD7), and anophthalmiaesophageal-genital syndrome (SOX2).

PRESENTATION
The neonate with EA typically has frothing and bubbling at the mouth and nose after birth as well as episodes of coughing, cyanosis, and respiratory distress. Feeding exacerbates these symptoms, causes regurgitation, and can precipitate aspiration. Aspiration of gastric contents via a distal fistula causes more damaging pneumonitis than aspiration of pharyngeal secretions from the blind upper pouch. The infant with an isolated TEF in the absence of EA (H-type fistula) might come to medical attention later in life with chronic respiratory problems, including refractory bronchospasm and recurrent pneumonias.

DIAGNOSIS
In the setting of early-onset respiratory distress, the inability to pass a nasogastric or orogastric tube in the newborn suggests esophageal atresia. Maternal polyhydramnios might alert the physician to EA. Plain radiography in the evaluation of respiratory distress might reveal a coiled feeding tube in the esophageal pouch and/or an air-distended stomach, indicating the presence of a coexisting TEF (Fig. 311-2). Conversely, pure EA can manifest as an airless scaphoid abdomen. In isolated TEF (H type), an esophagogram with contrast medium injected under pressure can

Chapter 311

Congenital Anomalies
311.1

Esophageal Atresia and Tracheoesophageal Fistula

Seema Khan and Susan R. Orenstein Esophageal atresia (EA) is the most common congenital anomaly of the esophagus, affecting 1/4,000 neonates. Of these, >90% have an associated tracheoesophageal fistula (TEF). In the most common form of EA, the upper esophagus ends in a blind pouch and the TEF is connected to the distal esophagus. The types of EA and TEF and their relative frequencies are shown in Figure 311-1. The exact cause is still unknown; associated features include advanced maternal age, European ethnicity, obesity, low socioeconomic status, and tobacco smoking. This defect has survival rates of >90%, owing largely to improved neonatal intensive care, earlier recognition, and appropriate intervention. Infants weighing <1,500g at birth have the highest risk for mortality. Fifty percent of infants are nonsyndromic without other anomalies, and the rest have associated anomalies, most often associated with the VATER or VACTERL (vertebral, anorectal, [cardiac], tracheal, esophageal, renal, radial, [limb]) syndrome. These syndromes generally are associated with normal intelligence. Despite low concordance among twins and the low incidence of familial cases, genetic factors have a role in the pathogenesis of TEF in some patients as suggested by discrete mutations in syndromic cases: Feingold syndrome (N-MYC), CHARGE syndrome (coloboma of the eye, central nervous system anomalies; heart defects; atresia of the choanae; retardation of growth and/or
A B C D E

Figure 311-2 Tracheoesophageal fistula. Lateral radiograph demonstrating a

nasogastric tube coiled (arrows) in the proximal segment of an atretic esophagus. The distal fistula is suggested by gaseous dilatation of the stomach (S) and small intestine. The arrowhead depicts vertebral fusion, whereas a heart murmur and cardiomegaly suggest the presence of a ventricular septal defect. This patient demonstrated elements of the VATER (vertebral, anorectal, tracheal, esophageal, renal, radial) anomalad. (From Balfe D, Ling D, Siegel M: The esophagus. In Putman CE, Ravin CE, editors: Textbook of diagnostic imaging, Philadelphia, 1988, WB Saunders.)

87%

8%

4%

1%

1%

Figure 311-1 A-E, Diagrams of the 5 most commonly encountered forms of esophageal
atresia and tracheoesophageal fistula, shown in order of frequency.

anastomotic leak, refistulization, and anastomotic stricture. Gastroesophageal reflux disease (GERD), resulting from intrinsic abnormalities of esophageal function, often combined with delayed gastric emptying, contributes to management challenges in many cases. GERD contributes significantly to the respiratory disease (reactive airway disease) that often complicates EA and TEF and also worsens the frequent anastomotic strictures after repair of EA. Many patients have an associated tracheomalacia that improves as the child grows.
BIBLIOGRAPHY
Please visit the Nelson Textbook of Pediatrics website at www.expertconsult. com for the complete bibliography.

311.2

Laryngotracheoesophageal Clefts

Seema Khan and Susan R. Orenstein Laryngotracheoesophageal clefts are uncommon anomalies that result when the septum between the esophagus and trachea fails to develop fully, leading to a common channel defect between the pharyngoesophagus and laryngotracheal lumen, thus making the laryngeal closure incompetent during swallowing or reflux. Other developmental anomalies, such as esophageal atresia and tracheoesophageal fistula, are seen in 20% of patients with clefts. Early in life, the infant presents with stridor, choking, cyanosis, aspiration of feedings, and recurrent chest infections. The diagnosis is difficult and usually requires direct endoscopic visualization of the larynx and esophagus. When contrast radiography is used, material is often seen in the esophagus and trachea. Treatment is surgical repair, which can be complex if the defects are long.

Figure 311-3 H-type fistula (arrow) demonstrated in an infant after barium swallow
on frontal-oblique chest x-ray. The tracheal aspect of the fistula is characteristically superior to the esophageal aspect. Barium is seen to outline the tracheobronchial tree. (From Wyllie R, Hyams JS, editors: Pediatric gastrointestinal and liver disease, ed 3, Philadelphia, 2006, Saunders Elsevier, p 299.)

demonstrate the defect (Fig. 311-3). Alternatively, the orifice may be detected at bronchoscopy or when methylene blue dye injected into the endotracheal tube during endoscopy is observed in the esophagus during forced inspiration.

MANAGEMENT
Initially, maintaining a patent airway and preventing aspiration of secretions are paramount. Prone positioning minimizes movement of gastric secretions into a distal fistula, and eso phageal suctioning minimizes aspiration from a blind pouch. Endotracheal intubation with mechanical ventilation is to be avoided if possible because it can worsen distention of abdominal viscera. Surgical ligation of the TEF and primary end-to-end anastomosis of the esophagus are performed when feasible. In the premature or otherwise complicated infant, a primary closure may be delayed by temporizing with fistula ligation and gastrostomy tube placement. If the gap between the atretic ends of the esophagus is >3-4cm, primary repair cannot be done; options include using gastric, jejunal, or colonic segments interposed as a neo-esophagus. Careful search must be undertaken for the common associated cardiac and other anomalies. Thoracoscopic surgical repair is now considered feasible and associated with favorable long-term outcomes.

OUTCOME
The majority of children with EA and TEF grow up to lead normal lives, but complications are often challenging, particularly during the first 5yr of life. Complications of surgery include

Chapter 311 Congenital Anomalies n 1263.e1

Achildi O, Grewal H: Congenital anomalies of the esophagus, Otolaryngol Clin North Am 40:219244, 2007. Castilloux J, Noble AJ, Faure C: Risk factors for short- and long-term morbidity in children with esophageal atresia, J Pediatr 156:755760, 2010. Keckler SJ, St Peter SD, Valusek PA, et al: VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature, Pediatr Surg Int 23:309313, 2007.

BIBLIOGRAPHY

Shaw-Smith C: Oesophageal atresia, tracheo-oesophageal fistula and the VACTERL association: review of genetics and epidemiology, J Med Genet 43:545554, 2006. Spitz L: Esophageal atresia. Lessons I have learned in a 40-year experience, J Pediatr Surg 41:16351640, 2006.