Description

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

Epidemiology

• The prevalence of EA-TEF is 1 in 2,500 to 4,000 live births. This frequency appears to be consistent worldwide.
• Slight male predominance (1.2:1)

Risk Factors

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

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.
• Disruption of signalling in the Wnt and Bmp pathways has been implicated in this chain of development. This theory remains controversial, and the exact nature of the defect is unresolved.

Commonly Associated Conditions

• Up to 50% are associated with another anomaly.
• Congenital heart disease is most common (found in 27% 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
• Trisomy 13
• Trisomy 18
• Trisomy 21
• CHARGE (coloboma, heart disease, choanal atresia, retarded growth, genital hypoplasia, and ear anomalies with deafness) syndrome
• Feingold syndrome
• 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 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, diagnosis may be delayed. These patients often present with recurrent respiratory infections or aspiration events later in childhood.

Physical Exam

• Infants with EA-TEF are frequently normal in physical appearance.
• Failure of passage of a stiff 10F or 12F nasogastric tube at 10 to 12 cm is the major diagnostic test.
• Exam should focus on evidence of VACTERL anomalies.
• Careful cardiac auscultation
• Respiratory auscultation may reveal crackles or other signs of aspiration.
• 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 VLBW infants (Appearance of Replogle tip in mediastinum on chest radiograph may look similar to esophageal pouch.)

Diagnostic Tests and Interpretation

• There are no specific laboratory findings associated with EA-TEF.
• Underlying pathology may lead to expected laboratory findings (e.g., electrolyte derangement with severe renal anomalies).
• Chest/abdominal radiograph: first recommended test
  • Nasogatric tube coiled in the proximal pouch in the upper chest or neck
  • Bowel gas present distally (type C)
  • No bowel gas with pure atresia (type A)
  • Possible vertebral and rib anomalies
  • Rule out “double bubble” of coincident duodenal atresia.
• Additional required imaging studies include a renal ultrasound, echocardiogram, and spinal ultrasound to rule out other VACTERL anomalies.
• Limb radiographs are indicated if abnormalities are seen on physical exam.
• Echocardiogram is crucial for operative planning as well as to assess for cardiac defects.
  • Ask the cardiologist to comment specifically on the sidedness of the aortic arch.
  • An anomalous right-sided arch may prompt the surgeon to explore the chest through a left thoracotomy rather than the usual right thoracotomy or thoracoscopy.
• Esophagram
  • For a suspected H-type fistula: Prone pressure esophagram may demonstrate the communication between the trachea and esophagus; however, the finding can be subtle and repeated studies may be necessary.
  • Esophagram is otherwise contraindicated in patients with EA-TEF because of high risk of aspiration.

General Measures

Preoperative management

• Strict NPO until surgical correction is undertaken
• Maintain a Replogle suction tube in the proximal pouch 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

Diagnostic Procedures/Other

• Surgical repair is required for all forms of EA-TEF.
• Repair is performed as early as feasible in the newborn period to avoid ongoing lung damage from repeated aspiration events.
• Extremely premature or ill infants can undergo fistula ligation and gastrostomy tube placement without esophageal repair. The esophagus can be reconstructed at a later date when the infant is more stable.
• Bronchoscopy at time of repair is controversial. It may identify the rare case of dual TEF or laryngotracheoesophageal cleft.
• Repair via thoracotomy or thoracoscopy 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.
• In a long-gap atresia (esophageal ends separated by more than three vertebral bodies) where the esophageal ends do not meet, a gastric pull-up or esophageal growth induction (Foker) process may be used. Alternately, a gastrostomy tube can be placed for nutrition and esophageal anastomosis performed in delayed fashion.
• Most surgeons place a nasogastric feeding tube across the esophageal anastomosis to act as a stent and allow early enteral feeding.
• Chest tube placement is at the discretion of the surgeon and is often maintained on water seal until the anastomosis has healed.
• 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 often be repaired by a 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.
• Surveillance endoscopy may be considered in young adulthood for risk of esophageal cancer, but this strategy is not yet established.

Diet

No change in diet. As infants and toddlers transition to solid food, dysphagia may become apparent and be related to esophageal stricture and/or GERD.

Patient Teaching

• 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 deficits neurocognitive outcomes have been noted in those patients with severe associated anomalies.

Prognosis

• Survival depends predominantly on 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
  • Early complication of EA-TEF repair
  • Seen on contrast esophagram
  • Will usually resolve with conservative management (NPO, TPN, and chest tube drainage of any collection)
  • Predisposes to the subsequent development of esophageal stricture and recurrent TEF
• Esophageal stricture
  • Common complication of EA-TEF repair
  • Symptoms include coughing and choking during feeds.
  • An esophagram is diagnostic.
  • Serial esophageal dilations may relieve symptoms.
  • Acid suppression can improve response to dilation and fundoplication may be required in refractory cases.
• Tracheomalacia
  • Symptomatic tracheomalacia occurs in 20% of patients with EA-TEF.
  • Diagnose by rigid or flexible bronchoscopy
  • Presents at 2 to 3 months of age with barking cough or stridor; may improve with positive airway pressure
  • Although children will outgrow tracheomalacia, the occurrence of “death spells” may mandate a surgical aortopexy to reduce severity of symptoms.
• GERD
  • Very common in EA-TEF patients due to disordered esophageal motility and anatomic alteration of the lower esophageal sphincter (LES) by esophageal traction
  • Unlike typical pediatric patients, reflux does not improve with age.
  • 15–70% 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 is a difficult problem requiring endoscopic or operative correction.
• As most complications of EA-TEF present with choking, coughing, and cyanosis, it can be hard to distinguish between potential etiologies. A rational strategy of esophagram and bronchoscopy is needed to determine the appropriate treatment plan.

ICD-9

• 750.3 Tracheoesophageal fistula, esophageal atresia and stenosis
• 748.3 Other anomalies of larynx, trachea, and bronchus

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

SNOMED

• 204659003 Esophageal atresia with tracheoesophageal fistula (disorder)
• 235640006 Tracheoesophageal fistula without atresia of esophagus (disorder)
• 26179002 Congenital atresia of esophagus (disorder)
• 60983006 Congenital esophagotracheal fistula (disorder)
• 447851008 congenital tracheoesophageal fistula with esophageal stenosis (disorder)