Esophageal atresia

Esophageal atresia
Classification and external resources
Common anatomical types of esophageal atresia a) Esophageal atresia with distal tracheoesophageal fistula (86%), Gross C. b) Isolated esophageal atresia without tracheoesophageal fistula (7%), Gross A. c) H-type tracheoesophageal fistula (4%), Gross E. [1]
ICD-10	Q39.0, Q39.1
ICD-9	750.3
DiseasesDB	30035
MedlinePlus	000961
eMedicine	ped/2934 radio/704
MeSH	D004933

Esophageal atresia (or Oesophageal atresia) is a congenital medical condition (birth defect) which affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. It is characterized anatomically by a congenital obstruction of the esophagus with interruption of the continuity of the esophageal wall.

Incidence

It occurs in approximately 1 in 2500 live births. ^[1]

Congenital esophageal atresia (EA) represents a failure of the esophagus to develop as a continuous passage. Instead, it ends as a blind pouch. Tracheoesophageal fistula (TEF) represents an abnormal opening between the trachea and esophagus. EA and TEF can occur separately or together. EA and TEF are diagnosed in the ICU at birth and treated immediately.

The presence of EA is suspected in an infant with excessive salivation (drooling) and in a newborn with drooling that is frequently accompanied by choking, coughing and sneezing. When fed, these infants swallow normally but begin to cough and struggle as the fluid returns through the nose and mouth. The infant may become cyanotic (turn bluish due to lack of oxygen) and may stop breathing as the overflow of fluid from the blind pouch is aspirated (sucked into) the trachea. The cyanosis is a result of laryngospasm (a protective mechanism that the body has to prevent aspiration into the trachea). Over time respiratory distress will develop.

If any of the above signs/symptoms are noticed, a catheter is gently passed into the esophagus to check for resistance. If resistance is noted, other studies will be done to confirm the diagnosis. A catheter can be inserted and will show up as white on a regular x-ray film to demonstrate the blind pouch ending. Sometimes a small amount of barium (chalk-like liquid) is placed through the mouth to diagnose the problems.

Treatment of EA and TEF is surgery to repair the defect. If EA or TEF is suspected, all oral feedings are stopped and intravenous fluids are started. The infant will be positioned to help drain secretions and decrease the likelihood of aspiration. Babies with EA may sometimes have other problems. Studies will be done to look at the heart and spine. Sometimes studies are done to look at the kidneys.

Surgery to fix EA is rarely an emergency. Once the baby is in condition for surgery, an incision is made on the side of the chest. The esophagus can usually be sewn together. Following surgery, the baby may be hospitalized for a variable length of time. Care for each infant is individualized.

Its very commonly seen in a newborn with imperforate anus.

Classification

This condition takes several different forms, often involving one or more fistulas connecting the trachea to the esophagus (tracheoesophageal fistula).

Presentation

Plain X-ray of the chest and abdomen showing a feeding tube unable to move beyond an upper esophageal pouch.

Plain x-ray with contrast in the upper esophagus above the atresia.

Surgical treatment of the condition.

Schematic representation.

This birth defect arises in the fourth fetal week, when the trachea and esophagus should begin to separate from each other.

It can be associated with disorders of the tracheoesophageal septum.^[6]

Associations

Other birth defects may co-exist, particularly in the heart, but sometimes also in the anus, spinal column, or kidneys. This is known as VACTERL association because of the involvement of Vertebral column, Anorectal, Cardiac, Tracheal, Esophageal, Renal, and Limbs. It is associated with polyhydramnios in the third trimester.

Diagnosis

This condition is visible, after about 26 weeks, on an ultrasound. On antenatal USG, the finding of an absent or small stomach in the setting of polyhydramnios used to be considered suspicious of esophageal atresia. However, these findings have a low positive predictive value. The upper neck pouch sign is another sign that helps in the antenatal diagnosis of esophageal atresia and it may be detected soon after birth as the affected infant will be unable to swallow its own saliva. Also, the newborn can present with gastric distention, cough, apnea, tachypnea, and cyanosis. In many types of esophageal atresia, a feeding tube will not pass through the esophagus.

Complications

Any attempt at feeding could cause aspiration pneumonia as the milk collects in the blind pouch and overflows into the trachea and lungs. Furthermore, a fistula between the lower esophagus and trachea may allow stomach acid to flow into the lungs and cause damage. Because of these dangers, the condition must be treated as soon as possible after birth.

Treatment

Treatments for the condition vary depending on its severity. The most immediate and effective treatment in the majority of cases is a surgical repair to close the fistula/s and reconnect the two ends of the esophagus to each other. Although this is usually done through an incision between the ribs on right side of the baby, a technique using three small incisions (thoracoscopy) is being used at some centers. In a minority of cases, the gap between upper and lower esophageal segments may be too long to bridge. In some of these so-called long gap cases, though, an advanced surgical treatment developed by John Foker, MD,^[7] may be utilized to elongate and then join together the short esophageal segments. Using the Foker technique, surgeons place traction sutures in the tiny esophageal ends and increase the tension on these sutures daily until the ends are close enough to be sewn together. The result is a normally functioning esophagus, virtually indistinguishable from one congenitally well formed. Unfortunately, the results have been somewhat difficult to replicate by other surgeons and the need for multiple operations has tempered enthusiasm for this approach.

The optimal treatment in cases of long gap esophageal atresia remains controversial.^[8] Traditional surgical approaches include gastrostomy followed by gastric pull-up, colonic transposition and jejunum transposition.^[9] Gastric pull-up has been the preferred approach at many specialized centers, including Great Ormand Street (London) and Mott Children's Hospital (Ann Arbor).^[10] Gastrostomy, or G-tube, allows for tube feedings into the stomach through the abdominal wall. Often a cervical esophagostomy will also be done, to allow the saliva which is swallowed to drain out a hole in the neck. Months or years later, the esophagus may be repaired, sometimes by using a segment of bowel brought up into the chest, interposing between the upper and lower segments of esophagus.

Post operative complications sometimes arise, including a leak at the site of closure of the esophagus. Sometimes a stricture, or tight spot, will develop in the esophagus, making it difficult to swallow. This can usually be dilated using medical instruments. In later life, most children with this disorder will have some trouble with either swallowing or heartburn or both.

Tracheomalacia—a softening of the trachea, usually above the carina (carina of trachea), but sometimes extensive in the lower bronchial tree as well—is another possible serious complication. Even after esophageal repair (anastomosis) the relative flaccidity of former proximal pouch (blind pouch, above) along with esophageal dysmotility can cause fluid buildup during feeding. Owing to proximity, pouch ballooning can cause tracheal occlusion. Severe hypoxia ("dying spells") follows and medical intervention can often be required.

A variety of treatments for tracheomalacia associated with esophageal atresia are available. If not severe, the condition can be managed expectantly since the trachea will usually stiffen as the infant matures into the first year of life. When only the trachea above the carina is compromised, one of the "simplest" interventions is aortopexy wherein the aortic loop is attached to the rear of the sternum, thereby mechanically relieving pressure from the softened trachea. An even simpler intervention is stenting. However, epithelial cell proliferation and potential incorporation of the stent into the trachea can make subsequent removal dangerous.

References

1. ↑ 1.0 1.1 1.2 Spitz, L. (2007). "Oesophageal atresia". Orphanet Journal of Rare Diseases 2: 24. doi:10.1186/1750-1172-2-24. PMC 1884133. PMID 17498283. 
2. ↑ Gross, RE. The surgery of infancy and childhood. Philadelphia, WB Saunders; 1953.
3. ↑ Vogt EC (1929). "Congenital esophageal atresia". Am J of Roentgenol 22: 463–465. 
4. ↑ Ladd WE (1944). "The surgical treatment of esophageal atresia and tracheoesophageal fistulas". N Engl J Med 230: 625–637. 
5. ↑ Serrao, E.; Santos, A.; Gaivao, A.; Tavares, A.; Ferreira, S. (2010). "Congenital esophageal stenosis: A rare case of dysphagia". Journal of Radiology Case Reports 4 (6): 8–14. doi:10.3941/jrcr.v4i6.422. PMC 3303409. PMID 22470735. 
6. ↑ Clark DC (February 1999). "Esophageal atresia and tracheoesophageal fistula". Am Fam Physician 59 (4): 910–6, 919–20. PMID 10068713. 
7. ↑ "Esophageal atresia - symptoms, tests, Foker treatment". Children’s Hospital Boston. Retrieved 1 June 2012. 
8. ↑ Kunisaki, S. M.; Foker, J. E. (2012). "Surgical Advances in the Fetus and Neonate". Clinics in Perinatology 39 (2): 349–361. doi:10.1016/j.clp.2012.04.007. PMID 22682384. 
9. ↑ "Esophageal Atresia Treatment Program". Children’s Hospital Boston. Retrieved 1 June 2012. 
10. ↑ Hirschl, R. B.; Yardeni, D.; Oldham, K.; Sherman, N.; Siplovich, L.; Gross, E.; Udassin, R.; Cohen, Z.; Nagar, H.; Geiger, J. D.; Coran, A. G. (2002). "Gastric transposition for esophageal replacement in children: Experience with 41 consecutive cases with special emphasis on esophageal atresia". Annals of surgery 236 (4): 531–539; discussion 539–41. doi:10.1097/01.SLA.0000030752.45065.D1. PMC 1422608. PMID 12368682. 

• Harmon C.M., Coran A.G. (1998). Congenital anomalies of the esophagus. In: Pediatric Surgery, 5th edn. St Louis, KY: Elsevier Science Health Science Division. ISBN 0-8151-6518-8. 

External links

• The Federation of Esophageal Atresia and Tracheo-esophageal fistula support groups E.V
• Esophageal Atresia Treatment (EAT) Program of Children's Hospital Boston
• Esophageal Atresia Index
• Description of Esophageal Atresia
• Pediatric Thoracic & Esophageal Surgery at the University of Michigan
• EA/TEF Family Support Connection
• Esophageal atresia with tracheo – esophageal fistula
• Esophageal Atresia Information and Education
• Upper neck pouch sign in the antenatal diagnosis of esophageal atresia
• GenReview/NIH/UW entry on Esophageal Atresia/Tracheoesophageal Fistula Overview
• TOFS (Trachea Oesophageal Fistula Support - UK Charity)
• Online Parent Support Group - Australia
• Oesophageal Atresia Research Auxiliary (OARA) which is an Auxiliary established under the auspices of the Royal Children’s Hospital in Melbourne