Esophageal atresia and tracheoesophageal fistula (TEF) have a prevalence of 1 in 3000 live births. The male-to-female ratio is equal. Infants with these conditions are often premature, and polyhydramnios is commonly diagnosed prenatally.
Esophageal atresia and TEF are classified based on the presence of atresia and the relation of the fistula location to the atresia. Older classification methods have been replaced with anatomical descriptions (Figure 35–1). The incidence of these two conditions is found in Table 35–1.
Types of esophageal atresia and tracheoesophageal fistula. (A) Type 1, esophageal atresia with distal tracheoesophageal fistula; (B) Type 2, esophageal atresia without tracheoesophageal fistula; (C) Type 3, tracheoesophageal fistula without esophageal atresia; (D) Type 4, esophageal atresia with proximal and distal tracheoesophageal fistula; and (E) Type 5, esophageal atresia with proximal tracheoesophageal fistula.
Table 35–1. Incidence of Esophageal Atresia and Tracheoesophageal Fistula (TEF). ||Download (.pdf)
Table 35–1. Incidence of Esophageal Atresia and Tracheoesophageal Fistula (TEF).
|Atresia with distal TEF||85.4%|
|Atresia without TEF||7.3%|
|TEF without atresia||2.8%|
|Atresia with proximal and distal TEF||2.1%|
|Atresia with proximal TEF||<1.0%|
Types of esophageal atresia and tracheoesophageal fistula: (A) Type 1, esophageal atresia with distal tracheoesophageal fistula; (B) Type 2, esophageal atresia without tracheoesophageal fistula; (C) Type 3, TEF without esophageal atresia; (D) Type 4, esophageal atresia with proximal and distal tracheoesophageal fistula; and (E) Type 5, esophageal atresia with proximal tracheoesophageal fistula.
Esophageal atresia with a distal TEF is the most common anomaly, comprising 85.4% cases. The lower esophageal segment begins as a fistula that arises from the distal trachea near the carina. The proximal esophageal pouch is found as a blind-ending segment near the thoracic inlet. The blood supply to the superior esophageal segment is via the thyrocervical trunk, whereas branches of the gastric arteries supply the distal esophageal segment.
Isolated esophageal atresia comprises 7.3% of cases. The lower pouch is usually only 1–2 cm above the diaphragm, whereas the upper pouch ends near the thoracic inlet, creating a long gap between the two ends that can complicate repair. This anomaly does not allow amniotic fluid to pass to the remainder of the developing gut, explaining the finding of polyhydraminos prenatally. However, esophageal atresia with a relatively narrow distal TEF can produce similar findings.
Isolated trasheoesophageal fistula is the third most common anomaly, comprising 2.8% of cases. The location of the fistula is variable, occurring between the cricoid cartilage and carina. More than one fistula can occur. The fistula angles downward from the trachea to the esophagus.
Esophageal atresia with proximal and distal TEF is less common and comprises 2.1% of cases.
Esophageal atresia with proximal TEF is the least commonly encountered anomaly, comprising <1% of cases. The fistula angles downward from the trachea to the esophagus. The space between the two esophageal ends is pronounced.
By the 26th day of embryologic development, the dorsal foregut has separated from the ventral trachea. A primary mechanism of esophageal atresia develops by an unknown etiology. Animal models demonstrate a branch of a tracheal trifurcation growing caudally, which connects to the stomach, creating the fistula. Esophageal atresia and tracheoesophageal fistula, seen in association with other embryologic abnormalities, is referred to by the acronym VACTERL (vertebral, anal, cardiac, tracheoesophageal, renal, and limb abnormalities). Patients with esophageal atresia and tracheoesohpageal fistula have approximately a 50% chance of having one of these associated anomalies, prompting the physician to rule out these other processes. Cardiac anomalies are the most commonly associated defects.
The esophagus of patients with esophageal atresia and TEF has a decreased number of Auerbach plexuses, explaining the neuronal element of altered esophageal motor function and partly explaining the chronic nature of dysmotility seen with these patients.
Pulmonary development may be impeded via two pathways. Firstly, direct pressure on the trachea by a distended proximal esophagus can contribute to tracheomalacia. Secondly, a fistula drains amniotic fluid out of the pulmonary tree. This fluid pressure has been implicated in playing a part in the parenchymal lung development.
Cisera CA, Connelly PR, Marmureanu AR, et al. Esophageal atresia with thracheoesophageal fistula: suggested mechanism in faulty organogenesis. J Pediatr Surg
(Animal model demonstrating a primary atresia of the esophagus with a secondary phenomenon of tracheoesophageal fistula development.)
Patients are often asymptomatic at birth. They can present with excessive drooling because of an inability to swallow. Upon feeding, the infant may cough, choke, regurgitate, or become cyanotic. The prevention of saliva from traveling to the stomach leads to aspiration, which can present as respiratory distress, atelectasis, and pneumonia.
Patients with the rare TEF without esophageal atresia are often diagnosed at a later stage because of a less pronounced symptom complex. Presentation can be subtle, with chronic upper respiratory symptoms and choking, repeated pneumonias, or asthmatic symptoms.
Patients with a distal TEF can have gastric distension resulting from the passage of air from the trachea to the distal esophagus. This situation may result in either gastric reflux into the trachea, causing chemical tracheobronchitis, or compromised respiratory status by abdominal distension and pulmonary compression.
Esophageal Catheter and Esophagram
Gentle placement of a catheter into the esophagus that will not pass into the stomach is often the first study suggestive of esophageal atresia. The catheter position should be noted on a plain radiograph. A standard barium swallow is not recommended because of possible spillage into the pulmonary tree. An esophagram may be useful in diagnosing an isolated TEF in an older child.
An abdominal radiograph can suggest which type of anomaly is present. In patients with a fistula connecting the distal esophagus, x-rays show gas in the stomach and small bowel. A gasless abdomen suggests either esophageal atresia without a TEF or a proximal fistula.
Bronchoscopy and Esophagoscopy
With high clinical suspicion and a negative barium study, isolated tracheoesophageal fistulas can be demonstrated with concurrent bronchoscopy and esophagoscopy. Isolated TEF usually presents in an older child.
An echocardiogram should be performed for two reasons: (1) to rule out the presence of cardiac anomalies and (2) to determine the side of the aortic arch. A left thoracotomy can be considered for a right-sided aortic arch, although some pediatric surgeons still prefer a right thoracotomy even in the presence of a right aortic arch.
An abdominal ultrasound is performed to image the kidneys to rule out renal anomalies as part of the VACTERL association.
Prenatal sonography can suggest esophageal atresia with the findings of polyhydramnios and no visible stomach. Because of the association of VACTERL, any findings suggestive of these anomalies should promote an evaluation for esophageal atresia and tracheoesophageal fistula. Prenatal MRI may be helpful to further delineate anomalies.
Langer JC, Hussain H, Khan A, et al. Prenatal diagnosis of esophageal atresia using sonography and magnetic resonance imaging. J Pediatr Surg
(MRI increases the accuracy of diagnosis of patients suspected of having esophageal atresia on prenatal ultrasound.)
Laryngotracheoesophageal cleft is a rare defect related to esophageal atresia and tracheoesophageal fistula. It occurs in the midline between the trachea and the esophagus. The defect can be minimal, or it can extend down past the carina. Symptoms range from chronic cough to respiratory distress. The diagnosis is made by rigid bronchoscopy. Severe cases require operative repair involving a right anterolateral cervical approach with lateral pharyngotomy to expose the defect.
Esophageal stenosis is a rare congenital anomaly. Anatomically, there can be tracheal elements in the wall of the esophagus or a mucosal web. Patients present later in life with difficulty swallowing solids. The diagnosis is made by barium swallow and esophagoscopy. Dilatation is effective for patients with cartilaginous remnants.
Congenital tracheal stenosis is a rare disease ranging from an isolated defect to pulmonary agenesis. It is often fatal. The diagnosis is made by bronchoscopy. Individual reports of successful segmental resection or alternative grafts have been noted.
Pretreatment Risk Evaluation
The Waterson classification has been used as a risk evaluation to predict the outcome and determine the surgical timing. Historically, patients in Category A, which is defined as birth weight >5.5 pounds, receive prompt surgical correction. A patient in Category B, with a birth weight of 4.0–5.5 pounds or an infant who presents with pneumonia and congenital anomaly, generally has short-term delay of surgical intervention. Patients receive a gastrostomy and are stabilized before surgical repair. Very ill infants with significant respiratory compromise due to a wide-open fistula may require ligation of the fistula, stabilization, and then subsequent esophageal reconstruction. A Category C classification, which is characterized by a patient birth weight of <4.0 pounds or an infant who presents with severe pneumonia and congenital anomaly, classically receives a staged repair. Infants traditionally had improved outcomes with a staged procedure. However, the addition of total parenteral nutrition to maintain the newborn's nutritional status and the fact that newborn mortality is attributed mostly to associated congenital anomalies have allowed patients in Category C to be treated with a delayed primary closure. In addition, low birth weight may not be an absolute contraindication to early repair. Currently, most children, with the exception of the most ill infants, undergo complete repair; although, increasingly smaller and more ill patients are undergoing complete repair in one stage.
Before surgery, patients are kept in a head-up position with an oroesophageal tube for continuous suction and frequent pharyngeal aspiration. Broad-spectrum antibiotics are instituted, such as ampicillin and gentamicin. Parenteral nutrition is started if repair is delayed. Associated VACTERL anomalies are ruled out. In patients with a distal fistula, a gastrostomy tube for decompression may be necessary if patients present with severe abdominal distension and respiratory compromise.
Operative repair is performed through one of two approaches, either a thorocotomy or thoracoscopic approach. In an open repair, a right posterior lateral thoracotomy at the fourth intercostal space is created. A left-sided approach, which is an exception, is often used for an anomalous right-sided aortic arch. The procedure is usually performed extrapleurally. The dissection proceeds posteriorly, with the lung reflected anteriorly. The azygos vein overlies the fistula and is either reflected superiorly or divided. The vagus is identified lying over the two esophageal segments. The fistula is divided and the trachea is closed with interrupted nonabsorbable sutures followed by coverage with adjacent tissue. The proximal esophagus is dissected freely up to the thoracic inlet to provide adequate length.
Care must be taken when dissecting the esophagus from the membranous portion of the trachea, since the two structures are usually adherent. Single-layer, full-thickness interrupted sutures create the anastomosis. A drainage catheter is placed in the retropleural space. Difficult repairs that are due to a long gap between the proximal and distal esophageal ends have been approached by serial stretching of the proximal segment with twice-daily bougie catheter dilations. Intraoperatively, either proximal circumferential or proximal spiral esophagomyotomies can provide the extra length needed. If insufficient length to perform the anastomosis is encountered, a staged repair with a cervical esophagotomy with serial stretching followed by anastomotic construction can be performed. Another method of repairing a long-gap esophageal atresia is lengthening the esophageal ends by placing sutures on the ends of the esophagus, exteriorizing them, and then putting them on tension. The anastomosis is then completed within 10 days.
Alternately, an esophageal replacement can be performed with a colon interposition or gastric tube graft. If a long-gap atresia is expected, particularly with isolated esophageal atresia, then a gastrostomy should be performed initially, with a subsequent esophageal reconstruction or replacement.
Increasingly, repair of esophageal atresia and TEF is being repaired using a thoracoscopic technique. The thoracotomy approach is noted to have significant complications such as scoliosis, chest wall deformity, rib fusion, and thoracic nerve damage. The thoracoscopic approach uses three small incisions which are 3–5 mm in size thus decreasing or eliminating these significant complications of the open procedure.
A thoracoscopic repair usually uses a transpleural approach although extrapleural has been used. Anesthesia obtains left mainstem intubation. The patient is positioned with right side up and slightly prone. Three ports are placed using either 3 or 5 mm sized ports. With left-sided intubation and ventilation, the right lung is collapsed with insufflation of carbon dioxide. The azygous vein is identified and acts as a marker for the inferior pouch (Figure 35–2). Subsequently, the azygous vein is usually divided. The upper pouch is identified with the help of anesthesia by gently moving a suction catheter. With the same care as in the open approach, the fistula and the distal esophageal segment is identified and dissected free circumferentially. The fistula is closed either using a clip or ligation technique. The upper pouch is then dissected carefully until the inferior pouch and proximal pouch can be approximated without undue tension. A single-layer hand-sewen anastomosis is performed. Prior to closure of the anterior anastomosis, a small caliber nasograstric tube is passed under visualization from the nose through the anastomosis site and into the distal esophagus. The nasogastric tube may be left in place for possible tube feeding. Finally, a chest tube is placed through one of the port sites under visualization. The lung is allowed to inflate. The ports are then removed and the remaining two incisions are approximated and sutured closed.
Three small incisions for the three ports (3–5 mm) are made as indicated by points A, B, and C on the patient. The azygous vein is identified and marks the location of the inferior pouch of the esophageal atresia.
Bax KM, van Der Zee DC. Feasibility of thoracoscopic repair of esophageal atresia with distal fistula. J Pediatr Surg
(Case series report on thoracoscopic repair examining outcomes in addition to complications of anastomotic leak and stenosis.)
Foker JE, Linden BC, Boyle EM Jr, Marquardt C. Development of a true primary repair for the full spectrum of esophageal atresia. Ann Surg
(Case series report on elongation of esophageal ends using traction with sutures.)
Holcomb GW III, Rothenberg SS, Bax KMA, et al. Thoracoscopic repair of esophageal atresia and tracheoesophageal fistula: a multi-institutional analysis. Ann Surg. 2005;242:422–428.
Kimura K, Nishijima E, Tsugawa C, et al. Multistaged extrathoracic esophageal elongation procedure for long-gap esophageal atresia: experience with 12 patients. J Pediatr Surg
(Case series with follow-up of a multistaged procedure for repair of long-gap esophageal atresia.)
Lugo B, Malhotra A, Guner Y, Nguyen T, Ford H, Nguyen NX. Thoracoscopic versus open repair of tracheoesophageal fistula and esophageal atresia. J Laparoendosc Adv Surg Tech A
MacKinlay GA. Esophageal atresia surgery in the 21st century. Semin Pediatr Surg
Tsao K, Lee H. Extrapleural thoracoscopic repair of esophageal atresia with tracheoesophageal fistula. Pediatr Surg Int
Anastomotic leak occurs in 10–20% of patients. In a multi-institutional study, anastomotic leak occurred in 10–20% of patients who underwent open repair compared to 7.6% of patients who underwent thoracoscopic repair. Most reports implicate anastomotic tension and esophagomyotomy as factors increasing the chance for leak. This condition can be diagnosed with saliva in the postoperative chest tube aspirate. Barium swallow diagnoses the location and the extent of the leak. Most small leaks close spontaneously with nonoperative management.
Anastomotic stricture presents in approximately 25% of open repair versus 4% in thoracoscopic repair. Patients can present with aspiration, malnutrition, and food obstruction. Strictures are diagnosed by barium swallow and usually treated successfully with one or more esophageal dilations. Occasionally, a segmental esophageal resection is required for refractory strictures.
Gastroesophageal Reflux Disease (GERD)
Gastroesophageal reflux can contribute to anastomotic stricture. It occurs in about 50% of patients. Intrinsic poor esophageal motility allows for the reflux of gastric acids, leading to aspiration, esophagitis, and scarring. The diagnosis is made by 24-hour esophageal pH monitoring. The treatment is aggressive medical therapy; however, about 30% of patients require antireflux fundoplication.
Tracheomalacia is diagnosed by bronchoscopy and is performed at the time of surgical intervention. Some studies report a 25% incidence. This disorder can result from poor development of the cartilaginous rings at the level of the fistula. It should be suspected in any patient with respiratory symptoms. Mild cases usually improve by age 1 or 2; however, severe cases may be treated with aortopexy.
Dutta HK, Gover VP, Dwivedi SN, Bhatnagar V. Manometric evaluation of postoperative patients of esophageal atresia and tracheoesophageal fistula. Eur J Pediatr Surg
(Manometry of patients who receive repair for the esophageal atresia and tracheoesophageal fistula demonstrating altered pressure and contractility profile of the esophagus.)
Esophageal atresia is lethal if not corrected. Patients with the VACTERL association have a poorer prognosis owing to the presence of the other anomalies. In fact, the mortality risk is greater for the associated anomalies than for esophageal atresia and tracheoesohageal fistula. The current survival rate of postsurgical repair is reported to be >90%.
Driver CP, Shankar KR, Jones MO, et al. Phenotypic presentation and outcome of esophageal atresia in the era of the Spitz classification. J Pediatr Surg
(Cohort study over a 12-year period. Patients with increasing incidence of cardiac anomalies.)