Esophageal atresia (pronounced: eh-SAH-fuh-GEE-uhl ah-TREE-zee-uh) with or without tracheoesophageal fistula is a congenital disorder of the baby's feeding passage (esophagus) that connects the back of the mouth with the stomach. Instead of connecting the mouth to the stomach it ends in a “blind pouch” because of a missing segment of esophagus. For some unknown reason, the midline structures in the developing fetus do not migrate to the correct location to form continuous passageways. In most cases there is a small fistula or passageway from the blind pouch of the esophagus to the trachea (called a tracheoesophageal or TE fistula). Typically (in about 90% of cases), the TE fistula will connect the lower blind pouch that comes from the stomach with the trachea and the upper segment will be a dilated blind pouch containing oral secretions. Less common are other variations in the location of the proximal (upper) and distal (lower) esophageal pouches and the fistula.
Sometimes this condition is detected on prenatal ultrasound when no fluid is observed in the unborn baby's stomach. Also, the mother will typically have polyhydramnios (extra amniotic fluid) because the baby will not be swallowing the amniotic fluid before birth.
Very soon after birth babies esophageal atresia with or without TE fistula will have difficulty feeding and show symptoms of aspiration (such as choking or pneumonia). When this disorder is suspected, a thin plastic tube that can be seen on x-ray will be inserted into the baby's esophagus and a chest x-ray will be taken to see whether the tube can pass readily into the stomach (as it would with normal anatomy).
Tracheoesophageal problems are relatively common, occurring in 1 of every 300-5000 live births.
Common Associated Conditions
Many babies with this condition will be born prematurely and they will often also have other congenital problems. About 25% of children will have cardiac defects (ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot). Congenital gastrointestinal defects of other types also occur in about 16% of babies (imperforate anus, duodenal atresia, malrotation). Other less common defects associated with esophageal atresia (with or without TE fistula) are problems with the vertebrae or ribs, and urinary tract or kidney malformations. About 10% of infants with esophageal atresia will have the following defects, in which case the condition is called VATER syndrome (V=vertebra malformations, A=anus or rectal malformations, T & E=tracheoesophageal malformations, and R=renal problems). Cardiac and limb defects are also often present with VATER syndrome.
Short-term Treatment and Outcomes
Once esophageal atresia with or without TE fistula is detected, the baby's head will be elevated and suction will be used to clear saliva from the mouth to prevent choking. The baby will be given oxygen for easier breathing. Babies receive antibiotics since risk of infection of the lungs will be great, and they will receive their nutrition by vein (hyperalimentation) until feeding into the stomach is possible.
Babies with esophageal atresia (with or without TE fistula) will need to receive treatment in a specialized pediatric medical center from pediatric surgeons who are very experienced in correcting this disorder. Prompt transfer to such a center is necessary for the baby's survival and long-term favorable outcome. Prompt treatment, care in a neonatal intensive care unit, and special surgical techniques coupled with very specific post-operative care has greatly improved the outlook for children with this disorder, almost all of whom will survive and thrive.
The extent of the baby's difficulties is partly determined by the amount of esophageal tissue that is present (the size of the gap between the two ends of the esophagus). If the proximal (upper) and distal (lower) ends are not too short, they can be brought together and joined to form an intact esophagus. The fistula will be repaired, and the baby will do very well after healing.
With other babies, there is a significant gap between the two segments of esophagus. The upper blind pouch may be brought up to the neck to drain the baby's saliva to the surface. Procedures that stimulate the lower esophageal segment to grow (such as those that gradually stretch the esophagus with traction sutures at the surface) have been successful in increasing the length of the esophagus and thus making repair possible. Some centers will insert a graft, perhaps of bowel tissue, to close the gap between the upper and lower pouches and create a passageway for normal feeding.
Babies may need to have a gastrostomy (a feeding tube surgically placed in the stomach) in order to receive good nutrition. It is essential the babies get good caloric intake so that they will grow well and heal quickly from their surgeries. Also, brain growth is critical in the early months and years of life, so nutritional adequacy is extremely important.
If the baby is very premature, surgery will be delayed until the baby grows to about 2 1/2 pounds, a time when the lung tissue is better able to withstand surgery and the esophageal structures are large enough to be repaired.
Long-term Treatment and Outcomes
The long-term treatment and outcomes will be unique to each child since there is such a wide variety of associated conditions and the severity of each will vary. Children with esophageal atresia will need long-term follow-up by a pediatric surgeon and perhaps a gastroenterologist.
Babies often develop gastroesophageal reflux disease (GERD) after their surgery to correct esophageal atresia. They may respond well to special feedings and medications, and they typically outgrow the GERD. They may have scar tissue that narrows the esophagus, requiring them to have dilatation (stretching) of the esophagus periodically. Inflammation of the esophagus can occur if there is a backflow of acidic stomach contents into the esophagus, and this can cause discomfort as well as increased scarring.
Another problem can be oral aversion, the baby's refusal to eat, which can be a significant problem. Babies who are not fed by mouth can quickly lose interest in eating normally, despite being hungry because they do not associate hunger with the experience of eating by mouth. They may also be very panicked about choking on food. The longer normal feeding is delayed, the more oral aversion is likely to develop. It can be very difficult to treat a child with oral aversion. “Sham feeding” is a technique that gets a child used to having food in the mouth while waiting for the full repair of the esophageal atresia.
Tracheomalacia is another complication because children with this disorder will typically have soft tracheal tissues and throat cartilage. This can result in partial collapse of the trachea when the child exerts himself or takes a deep breath. This collapse can cause stridor with breathing (a crowing sound as air is drawn in and out through the narrowed segment). They will also typically have a barky cough. Noisy breathing is very common with tracheoesophageal fistula and esophageal atresia. Over time the tracheo-bronchial cartilages will become firmer and the noisy breathing will disappear.
Implications for Children's Development
There are many implications for children's development, depending on the severity of the esophageal atresia and the number and extent of the associated conditions. Multiple surgeries and prolonged hospitalizations are common, with the pain and discomfort that this entails. Growth can be affected, though every attempt must be made to provide the child with sufficient calories. Breathing difficulties can make children anxious, as they fear choking on food or have trouble breathing from tracheomalacia.
After the repair, learning to eat is essential, and this must be accomplished before the gastrostomy tube can be removed. Helping the child make the connection between hunger and being full from eating by mouth must be learned, and can be a frustrating process for the child and family. The services of a feeding clinic can be very helpful.
Children will need an interdisciplinary team to guide the family in promoting normal development. The team typically will include a speech therapist who is an expert in children's feeding and swallowing disorders, an occupational therapist who can assist in making feeding experiences pleasant, a nutrition expert, and perhaps a psychologist to assist the child and family in developing normal routines for feeding and other life activities. A social worker and expert nurse as well as a pediatrician will be very helpful to the child and family dealing with the complex issues of this disorder.
Once the child has healed from these surgical procedures and has learned to eat well, development should proceed quite well, though this will depend on what other problems the child has.
Children and families will need to be encouraged to establish normal family routines, including being sure the child is present with the family at mealtimes. Parents need to be sure to discipline the child and to provide a stimulating environment despite the many hospitalizations and uncomfortable procedures. It is very important to teach the child to be self-sufficient and to emphasize the many things that are normal about the child.
Esophageal atresia and TE fistula is not a particularly visible congenital defect, so the child may not have to deal with public reaction to their appearance; however, they may have breathing and swallowing issues that need to be reported to teachers and school nurses in case the child needs special assistance or needs to be observed for complications (breathing, obstruction, infection, etc).
For more information, including resources for parents and general information about tracheoesophageal conditions, visit the following websites:
- EA/TEF Family Support Connection
- Esophageal Atresia and Tracheoesophageal Fistula information from the University of Minnesota Medical School
- University of Minnesota Amplatz Children's Hospital: Tracheoesophageal Fistula and Esophageal Atresia in the Newborn
- Boston Children's Hospital: Esophageal Atresia