eMedicine Specialties > Pediatrics: Surgery > General Surgery

Esophageal Atresia With or Without Tracheoesophageal Fistula

Author: Amulya K Saxena, MD, Attending Pediatric Surgeon, Department of Pediatric Surgery, Medical University of Graz, Austria
Coauthor(s): Geoffrey Blair, MD, Clinical Professor of Pediatric General Surgery, Department of Pediatric Surgery, University of British Columbia; Head, British Columbia's Children's Hospital; David E Konkin, MD, Staff Physician, Department of Surgery, Royal Columbian Hospital, University of British Columbia
Contributor Information and Disclosures

Updated: Apr 30, 2008

Introduction

Esophageal atresia refers to a congenitally interrupted esophagus. One or more fistulae may be present between the malformed esophagus and the trachea.

For excellent patient education resources, visit eMedicine's Esophagus, Stomach, and Intestine Center and Procedures Center. Also, see eMedicine's patient education articles Choking and Bronchoscopy.

History of the Procedure

The condition was first described anecdotally in the 17th century. In 1670, Durston described the first case of esophageal atresia in one conjoined twin. In 1696, Gibson provided the first description of esophageal atresia with a distal tracheoesophageal fistula (TEF). In 1862, Hirschsprung (a famous pediatrician from Copenhagen) described 14 cases of esophageal atresia. In 1898, Hoffman attempted primary repair of the defect but was not successful and resorted to the placement of a gastrostomy. 

At the start of the 20th century, surgeons were theorizing about how the lesion could be repaired. In 1939 and 1940, Ladd of Boston and Lever of Minnesota first achieved surgical success in stages; success meant that the affected children survived and skin-lined pharyngogastric conduits were eventually constructed. In 1941, Haight of Michigan successfully repaired esophageal atresia in a 12-day-old baby using a primary single-stage left-sided extrapleural approach. Subsequent to that child's survival and with advances in surgical and anesthetic techniques, esophageal atresia is now regarded as an eminently correctable congenital lesion.

Problem

The lack of esophageal patency prevents swallowing. In addition to preventing normal feeding, this problem may cause infants to aspirate and literally drown in their own saliva, which quickly overflows the upper pouch of the obstructed esophagus. If a TEF is present, fluid (either saliva from above or gastric secretions from below) may flow directly into the tracheobronchial tree.

Frequency

The incidence of esophageal atresia is 1 case in 3000-4500 births. This frequency may be decreasing for unknown reasons.

Internationally, the highest incidence of this disorder is in Finland, where it is 1 case in 2500 births.

Etiology

No human teratogens that cause esophageal atresia are known. Esophageal atresia that occurs in families has been reported. A 2% risk of recurrence is present when a sibling is affected. The occasional association of esophageal atresia with trisomies 21, 13, and 18 further suggests genetic causation. Also, twinning occurs about 6 times more frequently in patients with esophageal atresia than in those without the condition.

Currently, most authorities believe that the development of esophageal atresia has a nongenetic basis. Debate about the embryopathologic process of this condition continues, and little about it is known. The old His theory that lateral infoldings divide the foregut into the esophagus and trachea is attractively simple, but findings from human embryology studies do not support this theory.

In 1984, O'Rahilly proposed that a fixed cephalad point of tracheoesophageal separation is present, with the tracheobronchial and esophageal elements elongating in a caudal direction from this point.¹ This theory does not easily account for esophageal atresia but explains TEF as a deficiency or breakdown of esophageal mucosa, which occurs as the linear growth of the organ exceeds the cellular division of the esophageal epithelium.

In a 1987 report, Kluth eschews the concept that tracheoesophageal septation has a key role in the development of esophageal atresia.² Instead, he bases the embryopathologic process on the faulty development of the early, but already differentiated, trachea and esophagus, in which a dorsal fold comes to lie too far ventrally; thus, the early tracheoesophagus remains undivided. He also suggests that esophageal vascular events, ischemic events, or both may be causes in cases of esophageal atresia without fistula.

In 2003, Spilde et al reported esophageal atresia-TEF formations in the embryos of rat models of Adriamycin-induced teratogenesis.³ Specific absences of certain fibroblast growth factor (FGF) elements have been reported, specifically FGF1 and the IIIb splice variant of the FGF2R receptor.⁴ These specific FGF-signaling absences are postulated to allow the nonbranching development of the fistulous tract from the foregut, which then establishes continuity with the developing stomach.

In 2001, Orford et al postulated that the ectopic, ventrally displaced location of the notochord in an embryo at 21 days' gestation can lead to a disruption of the gene locus, sonic hedgehog-signaled apoptosis in the developing foregut, and variants of esophageal atresia.⁵ This situation may be due to various early gestation teratogenic influences such as twinning, toxin exposure, or possible abortion. More studies are required.

Pathophysiology

The variants of esophageal atresia have been described using many anatomic classification systems. To avoid ambiguity, the clinician should use a narrative description. Nevertheless, Gross of Boston described the classification system that is most often cited (see  Media file 1).⁶ According to this system, the types of esophageal atresia and the approximate incidence in all infants born with esophageal anomalies is as follows:

• Type A - Esophageal atresia without fistula or so-called pure esophageal atresia (10%)
• Type B - Esophageal atresia with proximal TEF (<1%)
• Type C - Esophageal atresia with distal TEF (85%)
• Type D - Esophageal atresia with proximal and distal TEFs (<1%)
• Type E - TEF without esophageal atresia or so-called H-type fistula (4%)
• Type F - Congenital esophageal stenosis (<1%) (This is not discussed in this article.)

A fetus with esophageal atresia cannot effectively swallow amniotic fluid, especially when TEF is absent. In a fetus with esophageal atresia and a distal TEF, some amniotic fluid presumably flows through the trachea and down the fistula to the gut. Polyhydramnios may be the result of this change in the recycling of amniotic fluid through the fetus. Polyhydramnios, in turn, may lead to premature labor. The fetus also appears to derive some nutritional benefit from the ingestion of amniotic fluid; thus, fetuses with esophageal atresia may be small for their gestational age.

The neonate with esophageal atresia cannot swallow and drools copious amounts of saliva. Aspiration of saliva or milk, if the baby is allowed to suckle, can lead to an aspiration pneumonitis. In a baby with esophageal atresia and a distal TEF, the lungs may be exposed to gastric secretions. Also, air from the trachea can pass down the distal fistula when the baby cries, strains, or receives ventilation. This condition can lead to an acute gastric perforation, which is often lethal. Prerepair esophageal manometric studies have revealed that the distal esophagus in esophageal atresia is essentially dysmotile, with poor or absent propagating peristaltic waves. This condition results in variable degrees of dysphagia after the repair and contributes to gastroesophageal reflux.

The trachea is also affected by the disordered embryogenesis in esophageal atresia. The membranous part of the trachea, the pars membranacea, is often wide and imparts a cross-sectional D shape to the trachea, as opposed to the usual C shape. These changes cause secondary anteroposterior structural weakening of the trachea, or tracheomalacia. This weakening can result in a sonorous cough as the intrathoracic trachea resonates and partially collapses with forceful expiration. Secretions can be difficult to clear and may lead to frequent pneumonias. Also, the trachea can partially collapse during feeding, after repair, or with episodes of gastroesophageal reflux; this partial collapse can lead to ineffective respiration; hypoxia; and, somewhat inexplicably, apnea.

Presentation

A mother who is carrying a fetus with esophageal atresia may have polyhydramnios, which occurs with approximately 33% of mothers with fetuses with esophageal atresia and distal TEF and with virtually 100% of mothers with fetuses with esophageal atresia without fistula. Characteristically, the neonate born with esophageal atresia drools and has substantial mucus, with excessive oral secretions. If suckling at the breast or bottle is allowed, the baby appears to choke and may have difficulty maintaining an airway. Significant respiratory distress may result. In the delivery room, the affected infant may have the sonorous seal-bark cough that indicates concomitant tracheomalacia. If an oral tube is placed to suction the stomach, as it is in some delivery rooms, it characteristically becomes blocked 10-11 cm from the lips.

Vertebral defects, anorectal malformations, cardiovascular defects, tracheoesophageal defects, renal anomalies, and limb deformities (VACTERL) are associated anomalies that should be readily apparent upon physical examination. If any of these anomalies are present, the presence of the others must be assessed. The VACTERL syndrome occurs when 3 or more of the associated anomalies are present. This syndrome occurs in approximately 25% of all patients with esophageal atresia. Anomalies in this syndrome include the following:

• Vertebral defects - Multiple or single hemivertebrae, scoliosis, rib deformities
• Anorectal malformations -Imperforate anus of all varieties, cloacal deformities
• Cardiovascular defects -Ventricular septal defect (most common), tetralogy of Fallot, patent ductus arteriosus, atrial septal defects, atrioventricular canal defects, aortic coarctation, right-sided aortic arch, single umbilical artery
• Tracheoesophageal defects - Esophageal atresia
• Renal anomalies - Renal agenesis including Potter syndrome, bilateral renal agenesis or dysplasia, horseshoe kidney, polycystic kidneys, urethral atresia, ureteral malformations
• Limb deformities - Radial dysplasia, absent radius, radial-ray deformities, syndactyly, polydactyly, lower-limb tibial deformities

Other associated conditions include coloboma, heart defects, atresia choanae, developmental retardation, genital hypoplasia, and ear deformities (CHARGE).

The following anomalies also occur with increased frequency in esophageal atresia

• Neurologic defects -Neural tube defects, hydrocephalus, tethered cord, holoprosencephaly
• GI defects -Duodenal atresia, ileal atresia, hypertrophic pyloric stenosis, omphalocele, malrotation, Meckel diverticulum
• Pulmonary defects - Unilateral pulmonary agenesis, diaphragmatic hernia 
• Genitalia defects - Undescended testicles, ambiguous genitalia, hypospadias

Also, trisomies 13, 21, or 18 and Fanconi syndrome may be present. The overall incidence of associated anomalies is approximately 50%. Cardiovascular anomalies occur in 35% of cases, genitourinary anomalies occur in 20% of cases, and associated gastrointestinal anomalies occur in approximately 20% of cases. A tethered cord is usually detectable with ultrasonography in the newborn period or later in life with MRI (or less desirably with CT scanning) if findings are equivocal.

Indications

The indication and timing of surgical repair may be determined by using the Waterston, Spitz, or Poenaru prognostic classification system.

In 1962, Waterston developed a prognostic classification system for esophageal atresia that is still used today.⁷ Category A includes patients who weigh more than 5.5 lb (2.5 kg) at birth and who are otherwise well; category B includes patients who weigh 4-5.5 lb (1.8-2.5 kg) and are well or who have higher birth weights, moderate pneumonia, and congenital anomalies; and category C includes patients who weigh less than 4 lb (1.8 kg) or have higher birth weights, severe pneumonia, and severe congenital anomalies. Management strategies are as follows:

• Category A - Immediate primary repair
• Category B - Delayed repair
• Category C - Staged repair

In 1994, after analyzing findings in 387 patients, Spitz et al recognized that the presence or absence of cardiac disease is a proven major prognostic factor.⁸ Spitz et al suggested the following groups, which are analogous to those in the Waterston classification system:

• Group I - Birth weight more than 1.5 kg and no major cardiac disease
• Group II - Birth weight less than 1.5 kg or major cardiac disease
• Group III - Birth weight less than 1.5 kg and major cardiac disease

In 1993, Poenaru proposed a simpler, 2-group classification system based on logistic regression analysis findings in 95 patients.⁹ Note that birth weight is not a factor. Class I includes patients who are low risk and do not meet criteria in class II, and class II includes patients who are high risk and ventilator-dependent or who have life-threatening anomalies, regardless of pulmonary status.

In 1989, Randolph et al refined the Waterston classification and reported a clinically helpful system that used a patient's physiologic status to determine the surgical management (ie, immediate repair, delayed primary repair, or staged repair).¹⁰ Weight, gestational age, and pulmonary condition were not considered. If the patient's physiologic parameters were good, they were managed with immediate repair. Staged repairs were used for infants who were severe compromised infants, especially those with severe cardiac anomalies. In this group, the survival rate was 77%, and the overall survival was 90%.

The above prognostic groupings can allow for the stratification of high-risk patients with esophageal atresia in planning for delayed repair, staged repair, or both; low-risk babies can usually undergo early (first 24-48 h) primary single-stage repair. For instance, a 2-kg baby with esophageal atresia and distal tracheoesophageal fistula (TEF) who also has tetralogy of Fallot is in Waterston category C, Spitz group II, and Poenaru class II; in this patient, delayed or staged repair may be best.

These classification systems help physicians to compare results in an organized and meaningful way. When comparing the 3 prognostic classification systems, the Spitz classification appears to have the most applicability in current practice.¹¹ Ductal-dependent cardiac lesions still seem to significantly affect the survival of children born with esophageal atresia.

Relevant Anatomy

Management plans for a delayed repair of the esophageal atresia may include placing a 10F Replogle double-lumen tube through the mouth or nose well into the upper pouch to provide continuous suction of pooled secretions from the proximal portion of the atretic esophagus. The baby may be positioned in the 45° sitting position. Prophylactic broad-spectrum antibiotics such as ampicillin and gentamicin may be used. General supportive care and total parenteral nutrition are needed.

With careful bedside attendance, these measures may permit a delay of days to perhaps weeks. Some have described cases in which the baby was discharged home with a Replogle tube in situ while waiting for staged repair of an esophageal atresia. However, deaths have been reported in infants in whom the tube did not maintain an empty upper pouch. A gastrostomy, distal tracheoesophageal fistula (TEF) ligation, or cervical esophagostomy may permit longer delays in the esophageal atresia repair. However, each intrusion carries a price.

A gastrostomy may be created if no distal TEF is present. In such cases, the stomach is small, and laparotomy is required. In all cases of esophageal atresia in which a gastrostomy is created, care should be taken to place it near the lesser curve to avoid damaging the greater curve, which can be used in the formation of an esophageal substitute. When a baby is ventilated with high pressures, the gastrostomy may offer a route of decreased resistance, causing the ventilation gases to flow through the distal fistula and out the gastrostomy site. This condition may complicate the use of ventilation.

In cases such as those above or in cases in which a distal fistula continues to cause lung soiling, consider distal TEF ligation. This ligation is performed by means of a right-sided thoracotomy, ideally performed via an extrapleural approach. The fistula may be clipped or simply ligated. If it is ligated and divided, subsequent staged repair of the esophageal atresia may be difficult because the distal esophageal segment tends to retract inferiorly to a substantial degree when it is detached from its tracheal mooring. However, simple fistula ligation may allow subsequent reopening of the fistula. Division of the fistula and attempts to anchor it at the mid chest with sutures are usually unsuccessful.

A cervical esophagostomy or spit fistula may be constructed in the right or left side of the neck, depending on the choice for subsequent esophageal substitution. It allows drainage of the upper pouch and precludes aspiration from the upper pouch. Sham feeding may be commenced in cases in which a long delay to repair is anticipated. This feeding may prevent subsequent oral aversion, which is a real problem in babies who have not been fed by mouth in their early weeks to months of life. However, cervical esophagostomy usually dooms the child to some form of esophageal substitution.

Please see Preoperative details for a discussion of aortic arch position and surgery.

Contraindications

Potter syndrome is bilateral renal agenesis and has a 100% mortality rate; therefore, repair of esophageal atresia is contraindicated.

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