Esophageal Atresia and Tracheoesophageal Fistula

Esophageal atresia is a congenital anomaly in which the upper esophagus is separated from the lower esophagus and ends in a blind pouch. The condition may be isolated or associated with tracheoesophageal fistula, which is an abnormal connection between the trachea and esophagus. The most common congenital tracheoesophageal abnormality is a combination of esophageal atresia and distal tracheoesophageal fistula. The defect manifests early after birth as an inability to feed, regurgitation, choking, and aspiration, and requires surgical correction. Survival is good, but long-term complications are common.

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Overview

Definitions

Tracheoesophageal fistula (TEF) and esophageal atresia (EA) are congenital malformations of the esophagus and lower respiratory tract.

  • EA: The esophagus has upper and lower sections that do not connect.
  • TEF: an abnormal connection between the esophagus and the trachea

Epidemiology

  • Incidence is 1 in 3,500 to 1 in 4,500 live births.
  • 50% of cases are associated with other anomalies:
    • VACTERL syndrome: 
      • Vertebral defects
      • Anal atresia
      • Cardiac defects
      • TEF
      • Renal anomalies 
      • Limb abnormalities
    • CHARGE syndrome: 
      • Coloboma
      • Heart defects
      • Atresia choanae
      • Growth Retardation
      • Genital abnormalities 
      • Ear anomalies
    • Congenital heart defects
    • Genitourinary defects
    • Sometimes associated with trisomies 13, 18, and 21

Etiology

  • Exact etiology unknown
  • Genetic component likely, as half of cases have associated malformations
  • By the 4th week of normal embryologic development, the dorsal foregut is disconnected from the ventral trachea. 
  • Defect in the lateral septation of the foregut → failure to separate into esophagus and trachea
  • Fistula tract in TEF develops from a branch of the embryonic lung bud.

Classification of EA and TEF

TypesDescriptionIncidence
Type AEA without TEFApproximately 8% of cases
Type BEA with TEF to the proximal esophageal segmentApproximately 1% of cases
Type CEA with TEF to the distal esophageal segmentApproximately 84% of cases
Type DEA with TEF to the proximal and distal esophageal segmentsApproximately 3% of cases
Type EH-type TEF without atresiaApproximately 4% of cases

Types of EA with TEF (gross classification): From top left, images in order of incidence: type C (84%), type A (8%), type E (4%); bottom row: type D and type B (least common).

Image by Lecturio.

Clinical Presentation and Diagnosis

Clinical presentation

  • Prenatal features: maternal polyhydramnios (if EA is present) in ⅔ of pregnancies
  • Infant (symptoms usually manifest early, within first 24 hours):
    • EA:
      • Drooling
      • Inability to feed
      • Regurgitation
    • TEF:
      • Respiratory distress
      • Coughing, choking
      • Aspiration pneumonia
      • Abdominal distention (from excess air in the stomach)

Prenatal diagnosis

  • Obstetric ultrasound:
    • Polyhydramnios
    • Non-visualization of stomach (if EA is present)
  • Genetic testing for chromosomal anomalies
  • Fetal echocardiogram for associated cardiac anomalies

Diagnosis in the infant

  • Physical exam: 
    • Inability to pass nasogastric tube (EA)
    • Abdominal distention
  • Imaging:
    • Plain radiography:
      • Gas-filled gastrointestinal (GI) tract (TEF)
      • Gasless abdomen (isolated EA)
      • Nasogastric tube curled up in the chest (EA)
    • Upper GI series: 
      • With water-soluble contrast only; barium causes pneumonitis
      • Contrast in the trachea (TEF)
      • Will show dilated proximal pouch (EA)
  • Endoscopy and/or bronchoscopy:
    • Direct visualization of TEF
    • Methylene blue injection to identify TEF
  • Computed tomography (CT) scan
    • 3D reconstruction of esophagus
    • For diagnosis of associated anomalies
  • Evaluation for associated anomalies:
    • Echocardiogram
    • Renal ultrasonography
    • Contrast enema
    • Limb radiographs

Management and Prognosis

Management

Supportive:

  • Head-up position
  • Total parenteral nutrition (TPN)
  • Prophylactic broad-spectrum antibiotics (e.g., ampicillin and gentamicin) for aspiration
  • Suction of secretions from the atretic esophagus to help with airway management

Surgery (definitive):

  • Immediate:
    • Separation of trachea and esophagus and TEF ligation usually done early (within the first few days)
    • Primary anastomosis of the proximal and distal segments for EA if the distance between segments is short
  • Delayed (EA repair):
    • For low-birth infants (< 1,500 grams)
    • If distance between proximal and distal segments is too long
    • Sometimes may have to wait 2–9 months to let proximal esophagus grow
    • If esophagus does not elongate enough, may need gastric transposition, jejunal or colon transposition to restore continuity

Prognosis

  • 87% survival with treatment
  • Early deaths are usually due to associated anomalies (cardiac and chromosomal).
  • Complications after surgical repair:
    • Short-term (childhood):
      • Anastomotic leak
      • Esophageal stricture
      • Recurrent fistula
      • Tracheomalacia
      • Delayed gastric emptying
      • Gastroesophageal reflux disease (GERD)
      • Aspiration pneumonia
    • Long-term (adult):
      • Dysphagia
      • GERD
      • Respiratory issues (cough, wheezing, recurrent infections)
      • Barrett’s esophagus: 4 times greater risk than the general population
      • Esophageal cancer: 50 times greater risk than the general population

Differential Diagnosis

  • Choanal atresia: a congenital anomaly in which the nasal passage is blocked due to failure of recanalization of the nasal fossae during fetal development. The newborn presents with cyanosis that subsides when stimulated and when they cry or open the mouth. This condition is associated with CHARGE syndrome and is diagnosed by the inability to pass a catheter into the nasopharynx, and by CT scan.  
  • Esophageal stenosis: a rare congenital malformation that usually presents with regurgitation, weight loss, dysphagia, and refusal of solid foods. Esophagoscopy will reveal the stenosis.
  • Esophageal achalasia: an esophageal motility disorder that presents with dysphagia, regurgitation, and occasional chest pain. The pathogenesis involves an incomplete relaxation of the lower esophageal sphincter (LES), increased LES tone, and esophageal dysmotility. Manometry and barium swallow are utilized for diagnosis.  
  • Congenital diaphragmatic hernia: caused by a failure of the pleuroperitoneal membrane to fuse, resulting in persistent communication between the thorax and the abdomen. This communication leads to abdominal organ herniation, lung compression, and eventually bilateral lung hypoplasia. The condition can also present with respiratory failure.  
  • GERD: can present with recurrent regurgitation, cough, stridor, wheezing, and poor weight gain. The disease process involves an inappropriate relaxation of the lower esophageal sphincter and is exacerbated by mucosal damage of the lower esophagus from exposure to gastric acid. Gastroesophageal reflux disease usually presents later than EA, which is evident in the first 24 hours.

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