DESCRIPTION

• Esophageal atresia (EA) is a congenital condition of incomplete formation of the esophagus. In most cases, the atretic (blind-ending) esophagus is associated with an aberrant distal fistula to the trachea (tracheoesophageal fistula [TEF]).
• Five types are described:
  • Pure EA without TEF (gross type A, 8–10%).
  • EA with proximal TEF (gross type B, 1–2%)
  • EA with distal TEF is the most common (gross type C, 85%)
  • EA with dual TEFs (proximal and distal TEFs) (gross type C, 1%)
  • Pure TEF without EA (“H type fistula,” gross type E, 3–4%)

EPIDEMIOLOGY

• The prevalence of EA-TEF is 1 in 3,500 to 4,000 live births. This frequency appears to be consistent worldwide.
• Slight male predominance (1.2:1)

ETIOLOGY

• The foregut diverticulum separates into the trachea and esophagus by 5th week of gestation; thus, factors leading to EA-TEF are present prior to week 5.
• In EA-TEF, it is postulated that the lateral folds that fuse to separate the trachea and esophagus fail to form.

RISK FACTORS

• Many maternal exposures have been postulated to contribute, but none are well established.
• Maternal diabetes (nongestational) during 1st trimester, older age, maternal diethylstilbestrol (DES) exposure, horticultural work, alcohol, and smoking have all been implicated.

COMMONLY ASSOCIATED CONDITIONS

• Up to 50% are associated with another anomaly.
• Congenital heart disease is most common (found in 13–55% of EA-TEF babies)
• VACTERL (vertebral defects, anal atresia, cardiac defects, TEF, radial or renal anomalies, and limb anomalies)
  • EA-TEF is associated with the VACTERL sequence of congenital anomalies.
  • 10–25% of EA-TEF infants
• Chromosomal anomalies (especially trisomy 21 and 18)
• CHARGE (coloboma, heart disease, choanal atresia, retarded growth, genital hypoplasia, and ear anomalies with deafness) syndrome
• Feingold syndrome (familial form of EA-TEF; duodenal atresia, digit abnormalities, microcephaly)
• DiGeorge syndrome

HISTORY

• Prenatal ultrasound may demonstrate features suggestive of EA-TEF such as absence of a stomach bubble, a dilated proximal pouch, or polyhydramnios.
  • Only a minority of patients are prenatally identified (9–24%), and the positive predictive value is low (50% of suspected prenatal scans prove to have EA-TEF).
  • Prenatal diagnosis is most common in cases of pure EA without TEF.
• In patients without a prenatal suspicion of EA-TEF, the diagnosis is usually first entertained when a newborn has excessive secretions and repeated bouts of choking and spitting up during attempts at feeding.
• In patients with an H-type fistula, the diagnosis may be delayed. These patients can present with recurrent respiratory infections or aspiration events later in childhood.

PHYSICAL EXAM

• Infants with EA-TEF are frequently normal in physical appearance.
• Respiratory auscultation may reveal crackles or other signs of aspiration.
• Failure of passage of a stiff 10F or 12F nasogastric tube beyond 10 to 12 cm is the major diagnostic test.
• Exam should focus on evidence of VACTERL anomalies.
  • Careful cardiac auscultation
  • Documentation of patent anus
  • Examination of limbs for skeletal abnormalities (absent radii or thumbs)
• Observation of other congenital anomalies consistent with genetic syndromes

DIFFERENTIAL DIAGNOSIS

• Congenital esophageal stricture
• Severe gastroesophageal reflux disease (GERD)
• Vascular ring
• Tracheal bronchus (H-type fistula)
• Laryngotracheoesophageal cleft (H-type fistula)
• Iatrogenic esophageal perforation, particularly in very low-birth-weight (VLBW) infants (appearance of Replogle tip in mediastinum on chest radiograph [CXR] may look similar to esophageal pouch)

DIAGNOSTIC TESTS & INTERPRETATION

GENERAL MEASURES

Preoperative management

• Strict NPO (nil per os; nothing by mouth) until surgical correction is undertaken
• Maintain a Replogle tube in the proximal pouch on continuous suction to decrease aspiration from pooled secretions.
• Initiate acid suppression therapy.
• Maintain head of bed (HOB) elevated to 45 degrees.

ADDITIONAL THERAPIES

Complete workup for VACTERL anomalies as described above. Patient may need referral to geneticist in nonisolated cases.

SURGERY/OTHER PROCEDURES

• Surgical repair is required for all forms of EA-TEF.
• Repair of type C EA-TEF is performed as early as feasible in the newborn period to avoid ongoing lung damage from repeated aspiration events.
• Rigid bronchoscopy at the time of EA-TEF repair is usually performed by pediatric surgery to carefully assess the airway anatomy and assist with optimal placement of the endotracheal tube.
• Repair via thoracotomy (85%) or thoracoscopy (15%) is at the surgeon’s discretion.
• The fistula is ligated by sutures or clips; the proximal esophageal pouch is mobilized and the esophagus brought together with a sutured anastomosis.
• Extremely premature, low-birth-weight, or ill infants should undergo early thoracotomy with fistula ligation plus laparotomy with gastrostomy tube placement. Definitive esophageal reconstruction can be done at a later date when the infant is larger or more stable.
• Patients with type A or B defects have long-gap atresia, meaning that the esophageal ends are separated by three or more vertebral bodies and cannot be reconstructed in the neonatal period. After gastrostomy tube placement for enteral nutrition, options include the following:
  • Spontaneous growth and delayed esophageal anastomosis at 1 to 4 months of age (first line)
  • Esophageal growth induction (Foker) using traction sutures
  • Esophageal replacement (stomach, colon, or small intestine)
• Chest tube placement is standard in most cases and is often maintained on water seal until the anastomosis has healed.
• Some surgeons place a transanastomotic nasogastric tube to facilitate enteral feeding.
• Postoperative paralysis and prolonged intubation are sometimes employed to reduce tension on the repair, but there is no strong evidence in favor of this practice.
• Pure H-type TEF can usually be repaired through a right cervical incision, avoiding entry into the chest.

FOLLOW-UP RECOMMENDATIONS

• EA-TEF patients require long-term follow-up for GERD, dysphagia, and esophageal motility issues.
• The role of surveillance endoscopy is undefined but generally recommended every 3 to 5 years to evaluate for silent GERD and esophagitis. There is an increased risk for Barrett and esophageal cancer in adulthood.

DIET

• There are no consensus guidelines on oral feeding.
• Early engagement of speech pathology for any feeding concerns may be beneficial.
• As infants and toddlers transition to solid food, dysphagia may become apparent and be related to esophageal stricture and/or GERD.

PATIENT EDUCATION

• Parents of EA-TEF patients may be informed that asthma, bronchitis, and pneumonia are common and may continue into adolescence.
• Esophageal dysmotility and GERD may persist throughout life.
• Adults with history of EA-TEF repair report very good quality of life, although some neurocognitive deficits have been noted in those patients with severe associated anomalies.

PROGNOSIS

• Survival depends predominantly on birth weight and the presence or absence of cardiac anomalies.
• Overall survival is approximately 95%.
• Survival of babies >1.5 kg without cardiac anomalies is 98%.

COMPLICATIONS

• Esophageal leak (20%)
  • Early complication of EA-TEF repair
  • Seen on contrast esophagram
  • Will usually resolve in 7 to 21 days with nonoperative management (IV antibiotics, NPO, total parenteral nutrition [TPN], and chest tube drainage of any collection)
  • Predisposes to the subsequent development of esophageal stricture and recurrent TEF
• Esophageal stricture (15–40%)
  • Most common surgical complication of EA-TEF repair
  • Symptoms include coughing and choking during feeds.
  • An esophagram is diagnostic.
  • Transanastomotic feeding tubes may increase the risk for stricture formation.
  • Serial esophageal dilations are the mainstay therapy. Refractory cases may require intralesional steroids or stricture resection.
  • Acid suppression may improve response to dilation, and fundoplication may be required in refractory cases.
• Tracheomalacia (8–15%)
  • Usually at 2 to 3 months of age with stridor, barking cough, and/or recurrent pneumonias secondary to poor mucociliary clearance
  • Diagnosis established by anterior and posterior wall coaptation during spontaneous respiration by rigid bronchoscopy.
  • Most children will outgrow tracheomalacia with positive pressure and supportive care.
  • A minority will have “death spells” that may mandate a surgical aortopexy and/or posterior tracheopexy to reduce the severity of symptoms.
• GERD (25–50%)
  • Very common in EA-TEF patients due to disordered esophageal motility and anatomic alteration of the lower esophageal sphincter (LES).
  • Unlike typical GERD in non-EA patients, reflux does not improve with age.
  • 15–25% of TEF patients eventually require fundoplication.
  • Predisposes the patient to Barrett esophagus, and recent data suggest that the lifetime risk of esophageal carcinoma may be 50 times higher than average
• Recurrent TEF (5%) is a difficult problem requiring operative correction. To minimize a second recurrence, surgeons advocate for repair using a flap of vascular tissue or performing a posterior tracheopexy to align the tracheal suture line with the spine.
• As most complications of EA-TEF present with choking, coughing, and cyanosis, it can be difficult to distinguish between potential etiologies. A strategy of esophagram and/or bronchoscopy is needed to determine the appropriate treatment plan.

ICD 10

• Q39.1 Atresia of esophagus with tracheoesophageal fistula
• Q39.2 Congenital tracheo-esophageal fistula without atresia
• Q39.0 Atresia of esophagus without fistula