Esophageal atresia

Definition

Esophageal atresia is a serious birth defect in which the esophagus, the long tube that connects the mouth to the stomach, is segmented and closed off at any point. This condition usually occurs with tracheoesophageal fistula, a condition in which the esophagus is improperly attached to the trachea, the nearby tube that connects the nasal area to the lungs. Esophageal atresia occurs in approximately 1 in 4, 000 live births.

Description

Failure of an unborn child (fetus) to develop properly results in birth defects. Many of these defects involve organs that do not function, or function only incidentally, before birth, and, as a result, go undetected until the baby is born. In this case, the digestive tract is unnecessary for fetal growth, since all nutrition comes from the mother through the placenta and umbilical cord.

During fetal development, the esophagus and the trachea arise from the same original tissue. Normally, the two tubes would form separately (differentiate); however, in cases of esphageal atresia and tracheoesophageal fistulas, they do not, resulting in various malformed configurations. The most common configuration is the "C" type, in which the upper part of the esophagus abruptly ends in a blind pouch, while the lower part attaches itself to the trachea. This configuration occurs in 85–90% of cases. Esophageal atresia without involvement of the trachea occurs in only 8% of cases.

— J. Ricker Polsdorfer, MD

An abnormal esophagus that ends in a blind pouch or narrows to a thin cord and thus fails to provide a continuous passage to the stomach. It is usually a congenital anomaly.

Definition

Esophageal atresia (EA) is a birth defect (congenital anomaly) in which the esophagus, which connects the mouth to the stomach, is shortened and closed off (dead ended) at some point along its length. This defect almost always occurs in conjunction with tracheoesophageal fistula (TEF), a condition in which the esophagus is improperly attached to the trachea, the "windpipe" that carries air into the lungs. It is believed that these defects occur around the fourth week of pregnancy when the digestive tract is forming. There is no known cause for the defects.

Description

Failure of an unborn child (fetus) to develop properly can result in birth defects. These defects typically involve organs whose function is either incidental or not necessary at all before birth, meaning that the defects will not be detected until the baby is born. The digestive tract is unnecessary for fetal growth, since all nutrition comes from the mother through the placenta and umbilical cord. During fetal development, the esophagus and trachea arise from the same original tissue, forming into two side-by-side passageways, the esophagus leading from the throat to the stomach and digestive tract, and the trachea leading from the larynx to the lungs and respiratory system. Normally, the two tubes form separately (differentiate); however, in the case of EA/TEF, they do not differentiate, which results in various malformed configurations. There are five configurations, as follows:

• Type A (7.7%): Esophageal atresia in which both segments of the esophagus end in blind pouches. Neither segment is attached to the trachea.
• Type B (0.8%): Esophageal atresia with tracheoesophageal fistula in which the upper segment of the esophagus forms a fistula to the trachea. The lower segment of the esophagus ends in a blind pouch. This condition is very rare.
• Type C (86.5%): Esophageal atresia with tracheoesophageal fistula, in which the upper segment of the esophagus ends in a blind pouch (EA) and the lower segment of the esophagus is attached to the trachea (TEF).
• Type D (0.7%): Esophageal atresia with tracheoesophageal fistula, in which both segments of the esophagus are attached to the trachea. This is the rarest form of EA/TEF.
• Type H (4.2%): Tracheoesophageal fistula in which there is no esophageal atresia because the esophagus is continuous to the stomach. Fistula is present between the esophagus and the trachea.

Normally, the esophagus moves food from the mouth to the stomach. When the esophagus ends in a pouch instead of emptying into the stomach, food, liquids, and saliva cannot pass through. The combination of EA with TEF compromises digestion, nutrition, and respiration (breathing), creating a life-threatening condition that requires immediate medical attention. All babies with EA/TEF require surgical repair to correct the condition and allow proper nutrition and swallowing. Many children have surgeries performed in separate stages over a period of years.

Demographics

Esophageal atresia alone or with tracheoesophageal fistula (EA/TEF) occurs in approximately one in 4,000 live births. Children' s hospitals in the United States report from five to 20 babies undergo surgery each year for EA/TEF.

Causes and Symptoms

The cause of esophageal atresia, like that of most birth defects, was as of 2004 unknown.

An infant born with EA/TEF may at first appear to swallowing normally. However, the first signs of EA/TEF may be the presence of tiny, white, frothy bubbles of mucous in the infant's mouth and sometimes in the nose as well. When these bubbles are suctioned away, they reappear. This symptom occurs when the blind pouch begins to fill with mucus and saliva that would normally pass through the esophagus into the stomach. Instead these secretions back up into the mouth and nasal area, causing the baby to drool excessively. Although the infant may swallow normally, a rattling sound may be heard in the chest along with coughing and choking, especially when the infant tries to nurse. Some infants, depending on the severity of the defect, may appear blue (cyanosis), a sign of insufficient oxygen in the circulatory system. The infant' s abdomen may be swollen and firm (distended) because the abnormal trachea allows air to build up in the stomach, filling the abdominal space that holds the surrounding organs. Aspiration pneumonia, an infection of the respiratory system caused by inhalation of the contents of the digestive tract, may also develop.

When to Call the Doctor

EA is suspected when an infant drools excessively, accompanied by choking and sneezing and difficulty feeding. This condition may be detected within the first few days of life while the infant is still in the hospital or birthing center. If a newborn being cared for at home shows excessive drooling or begins to cough and struggle when nursing or swallowing, it is essential to contact the pediatrician immediately and to go to an emergency department for immediate care. If respiratory distress develops, it is critical to obtain immediate care to reduce the risk of aspiration of material (saliva or milk) into the trachea and the lungs.

Diagnosis

When a physician suspects esophageal atresia after being presented with the typical symptoms, diagnosis usually begins with gently passing a catheter through the nose and into the esophagus. Esophageal atresia is indicated if the catheter stops at the blind pouch, indicating that it has hit an obstruction. If EA is present, the catheter will typically stop at 4 to 5 inches (10–12 cm) from the nostrils. Barium-enhanced x-ray examination may reveal a dilated esophageal pouch, made larger by the collection of amniotic fluid in the pouch. During fetal development, the enlarged esophagus may also have pressed on and narrowed the trachea, a condition in the fetus that can contribute to fistula development. Air in the stomach may confirm the presence of fistula; gas in the large intestine rules out intestinal (duodenal) atresia. The physician will also perform a comprehensive physical examination, looking for other congenital anomalies that are known to accompany EA/TEF. Chest x rays may be taken to look for skeletal and cardiac abnormalities. Abdominal x rays may be taken as well to look for intestinal obstruction and abnormalities. An echocardiogram (ECG) may be performed to evaluate heart function and ultrasound of the kidneys performed to evaluate kidney function.

Treatment

Infants with EA, with or without TEF, are unlikely to survive without surgery to reconnect the esophagus. The procedure is done as soon as possible; however, prematurity, the presence of other birth defects, or complications of aspiration pneumonia may delay surgery. Once diagnosed, the baby may be fed intravenously until surgery is performed. Mucus and saliva will also be continuously removed via a catheter. Healthy infants who have no complications, such as heart or lung problems or other types of intestinal malformations, can usually have surgery within the first 24 hours of life. Surgery techniques used to treat the five types of EA/TEF defects are similar.

Surgery is conducted while the infant is under general anesthesia; a tube is placed through the mouth to continuously suction the esophageal pouch during the procedure. An intravenous line (IV tubing into the veins) is established to allow fluids to be administered as needed during surgery. Oxygen therapy is administered if needed. In infants with pulmonary problems, tracheal intubation (an airway placed in the trachea) may be performed. If lung infection is suspected, the infant is given broad-spectrum antibiotics intravenously, either pre- or post-operatively.

The surgeon makes an incision in the right chest wall between the ribs, allowing access to the esophagus and the trachea for repair of one or both as needed. If the gap between the two portions of the esophagus is short, the surgeon may join both ends of the esophagus (anastomosis). If the upper portion of the esophagus is short and a long gap exists between upper and lower portions, reconstructive surgery cannot be performed, and the infant must receive nutrition in some way to allow several months of growth. In this case, a gastrostomy (stomach tube) may be surgically placed directly into the stomach for feeding. In the most typical EA/TEF repair, the fistula is first closed off, creating a separate airway. Then the blind esophageal pouch is opened and connected with suturing (stitching) to the other portion of the esophagus, creating a normal "food pipe" directly into the stomach. The esophagus is separated from the trachea if necessary. If the two ends of the esophagus are too far apart to be reattached, tissue from the large intestine is used to join them.

Nutritional Concerns

If an infant is unable to nurse normally before surgery can be performed, nutrition is provided intravenously (parenteral) or directly through a tube into the stomach (gastronomy). After the surgery, infants should be able to swallow normally and resume nursing or feeding.

Prognosis

Surgery to correct esophageal atresia is usually successful, with survival rates close to 100 percent in otherwise healthy infants after the condition is corrected. Postoperative complications may include difficulty swallowing, since the esophagus may not contract efficiently, and gastrointestinal reflux, in which the acidic contents of stomach back up into the lower part of the esophagus, possibly causing ulcers.

Prevention

No preventive measures are recommended because the cause of these birth defects was as of 2004 unknown and their occurrence not predictable.

Parental Concerns

Despite a difficult beginning for infants with esophageal atresia with or without TEF, parents can be reassured that the defect can usually be corrected with surgery, allowing normal digestion, nutrition, and breathing to take place in their child. Concerns about complications are well founded, including increased susceptibility to colds and infections, as well as the presence of chronic conditions. Ongoing medical care helps manage these conditions and maintain good health in children who have had EA/TEF. Parents can seek advice about strengthening the child's immune system through appropriate nutrition and supplements.

See also Tracheoesophageal fistula.

Resources

Books

Allan, W., et al. Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management, 3rd ed. Boston, MA: B.C. Decker, 2000.

Stringer, David A., et al. Pediatric Gastrointestinal Imaging and Intervention. Boulder, CO: netLibrary, 2000.

Organizations

EA/TEF child and Family Support Connection. 111 West Jackson Blvd., Suite 1145, Chicago, IL 60604. Web site: www.eatef.org.

Web Sites

"Esophageal Artesia." University of Michigan Section of Pediatric Surgery. Available online at (accessed November 27, 2004).

"Esophageal Atresia and Tracheoesophageal Fistula." University of Minnesota Medical School. Available online at (accessed November 27, 2004).

"What is esophageal atresia?" TEF/VATER International, 2004. Available online at www.tefvater.org (accessed November 27, 2004).

[Article by: L. Lee Culvert J. Ricker Polsdorfer, MD]

Esophageal atresia
Classification and external resources
Common anatomical types of esophageal atresia a) Esophageal atresia with distal tracheoesophageal fistula (86%). b) Isolated esophageal atresia without tracheoesophageal fistula (7%). c) H-type tracheoesophageal fistula (4%).
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.

Esophageal atresia (EA) is a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. Anatomically characterized by a congenital obstruction of the light of the esophagus with interrupted the continuity of the esophageal wall. The esophagus is divided into two pouch blind, an upper and lower, which may or may not communicate with the tracheobronchial tree, through fistulous tract called Tracheoesophageal Fistula (TEF).

Contents 1 Incidence 2 Types 3 Presentation 4 Associations 5 Diagnosis 6 Complications 7 Treatment 8 References 9 External links

Incidence

It occurs in approximately 1 in 4425 live births.

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.

Types

This condition takes several different forms, often involving one or more fistulas connecting the trachea to the esophagus (tracheoesophageal fistula). Approximately 85% of affected babies will have a 'lower fistula'.

Type	Name(s)	Description
Type A	"Long Gap", “Pure” or “Isolated” Esophageal Atresia	Esophageal Atresia without fistula. Type A Esophageal Atresia is characterized by the presence of a “gap” between the two esophageal blind pouches.
Type B	Esophageal Atresia with proximal TEF (tracheoesophageal fistula)	Esophageal Atresia where the upper esophageal pouch connects abnormally to the trachea. This abnormal connection is called a fistula. The lower esophageal pouch ends blindly.
Type C	Esophageal Atresia with distal TEF (tracheoesophageal fistula)	Esophageal Atresia where the lower esophageal pouch makes an abnormal connection with the trachea. This abnormal connection is called a fistula. The upper esophageal pouch ends blindly.
Type D	Esophageal Atresia with both proximal and distal TEFs (two tracheoesophageal fistulas)	Esophageal Atresia where the upper and lower esophageal pouches make and abnormal connection with the trachea in two separate, isolated places. The upper esophageal atresia also still ends in a blind pouch.
Type E	TEF (tracheoesophageal fistula) ONLY with no Esophageal Atresia and there is a blind pouch over there hageal Atresia	This rare form finds the esophagus fully intact and capable of its normal functions, however, there is an abnormal connection between the esophagus and the trachea. This abnormal connection is called a fistula.
Type F	Esophageal Stenosis	Also known as an Esophageal Stricture. This rare form also finds the esophagus fully intact and connected to the stomach, however, the esophagus gradually narrows, causing food and saliva to become “caught” in the esophagus. On occasion, Type F can go undiagnosed until adulthood.

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.^[1]

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 syndrome 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. This is not possible in all cases, since the gap between upper and lower esophageal segments may be too long to bridge. In this situation, a gastrostomy is performed, allowing tube feedings into the stomach through the abdominal wall, and 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. ^ "Esophageal Atresia and Tracheoesophageal Fistula - February 15, 1999 - American Academy of Family Physicians". http://www.aafp.org/afp/990215ap/910.html. Retrieved 2007-11-11. 

• 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

• Esophageal Atresia Index
• Description of Esophageal Atresia
• 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

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