Esophageal atresia (ORPHA:1199)
A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.
Epidemiology
Esophageal atresia (EA) occurs in approximately 1/5000 live births worldwide. The birth prevalence in Europe is slightly higher at 1/4,000.
Clinical description
The Gross classification describes five different types. Type A (1%) without fistula, type B (2%) with a fistula to upper esophageal pouch, type C (86%) with a fistula to distal esophageal pouch, type D (1%) with fistula to upper and distal esophageal pouch, and type E (4%) with an isolated fistula without interruption in the esophageal continuity. A distance between the two pouches corresponding to the height of three vertebra or more is classified as long-gap esophageal atresia. The newborn infants with EA are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning in children with Gross type A, B and C. In Gross type D the respiratory distress and coughing will be the prevailing symptom. In the Gross type E (isolated fistula without esophageal interruption) episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in neonatal or childhood may be seen.
Etiology
The etiology is largely unknown and is likely to be multifactorial. Genomic analysis have identified de novo variants in protein-coding regions in different gene loci.
Diagnostic methods
The likelihood of an atresia is increased by the presence of polyhydramnios. Inserting a nasogastric tube at birth allows the diagnosis to be confirmed or excluded and should be performed in all infants born to a mother with polyhydramnios, as well as in infants who produce excessive mucus soon after delivery. In EA, the tube will not progress beyond 10 cm from the mouth. Further confirmation is obtained by plain X-ray of the chest and abdomen. In patients with Gross type E the diagnosis may be confirmed by bronchoscopy or esophageal contrast studies.
Differential diagnosis
In 50% of cases, EA is associated with other anomalies, the majority involving one or more of the VACTERL association anomalies (vertebral, anorectal, cardiac, tracheoesophageal, renal and limb defects).
Antenatal diagnosis
The diagnosis may be suspected prenatally by a small or absent stomach bubble on ultrasound scan at around 18 weeks of gestation. The likelihood of an atresia is increased by the presence of polyhydramnios. Magnetic resonance imaging (MRI) has the highest diagnostic sensitivity and specificity.
Genetic counseling
The vast majority of cases are sporadic and the recurrence risk for siblings is 1%.
Management and treatment
Definitive management involves disconnection of the tracheooesophageal fistula, closure of the tracheal defect and primary anastomosis of the esophagus during the neonatal period. Delayed primary repair should be attempted when there is a 'long gap' between the ends of the esophagus. Various traction methods have been developed to increase the length of the pouches to facilitate a primary anastomosis. If it fails, organ replacement (stomach, jejunum or colon) may be necessary. In Gross type E, the fistula must be transected and closed. Open surgical or endoscopic (thoracoscopic) procedures may be used. Anastomotic stenosis and leakage are the most common postoperative complications and are usually handled endoscopically.
Prognosis
Survival is directly related to birth weight and to the presence of a major cardiac defect. Infants weighing over 1500 g and having no major cardiac problems have a near 100% survival rate, but the survival rate decreases in the presence of additional risk factors. Dysphagia and gastroesophageal reflux disease are common long-term sequelae.

                            Last update: 
                            May 2022


                            - Expert reviewer(s): 
                            Pr Niels QVIST | ERNICA*


                                * European Reference Network