NORD is very grateful to Lewis Spitz, MD, PhD, FRCS, FACS. Emeritus Nuffield Professor of Paediatric Surgery, UCL Institute of Child Health, Great Ormond Street, London, for the assistance in the preparation of this report.
Esophageal atresia (EA) is a rare birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally. In infants with EA, the esophagus is usually separated into two parts, an upper and lower segment. These two segments do not connect. One or both segments (usually the upper) end in a blind pouch. Consequently, the normal passage between the mouth and stomach does not exist. EA often occurs in association with a tracheoesophageal fistula (TEF), which is an abnormal passage or connection (fistula) between the esophagus (usually the lower) and the trachea (windpipe). The trachea is the tube that runs from the voice box in the throat to the lungs (bronchi), and carries air to and from the lungs. EA/TEF is a life-threatening condition, however, the majority of affected infants will recover fully if the defect is detected early and treated appropriately. The exact underlying causes of EA/TEF are not fully understood. EA/TEF can occur as isolated findings (nonsyndromic), associated with other birth defects (non-isolated), or as part of a larger syndrome.
Infants with EA/TEF are unable to swallow normally and can have trouble breathing (respiratory distress). After birth, infants will exhibit excessive amounts of drool, mucus and other oral secretions because they are unable to swallow. These secretions may appear as frothy white bubbles in an infant’s mouth and recur even after being suctioned out.
If a TEF is present, affected infants are also at risk of secretions, such as gastric juices and saliva/mucus, being inhaled into the lungs (aspiration). Consequently, these infants can develop significant respiratory distress and/or pneumonia.
Affected infants may experience episodes of coughing, gagging or choking. They can also experience repeated episodes of low levels of oxygen in the blood (hypoxia/cyanosis). Cyanosis is characterized by shortness of breath, coughing, flaring of the nostrils when breathing and bluish discoloration of the skin. Some of these infants have abnormal softening and weakening of the cartilage of the trachea (tracheomalacia) so that the walls of the trachea are floppy instead of rigid. This is often mild, but can be severe, leading to collapse of the air passage. Tracheomalacia can contribute to breathing difficulties and may precipitate respiratory arrest (near death episodes).
Approximately 50 percent of infants with an EA/TEF have another birth defect. Heart (cardiac) abnormalities are the most frequent additional birth defect associated with EA/TEF. Such abnormalities can include ventricular septal defects or more complex abnormalities such as Tetralogy of Fallot. Abnormalities of the gastrointestinal system and urogenital tract are the next most common birth defects that occur along with EA/TEF. These include imperforate anus, a condition in which the anal opening fails to develop properly. Less common are abnormalities of the neurological and musculoskeletal systems. Many abnormalities occur in combination – the VACTERL association (Vertebral, Anorectal, Cardiac, TracheoEsophageal, Renal and Limb defects)
A classification system has been devised that breaks EA/TEF into different subtypes. Although this classification system is commonly used, it is not universal. Type C is the most common form. The other types affect less than 15 percent of individuals with EA/TEF. Under the classification, the subtypes include,
Only EA is present (there is no TEF). The esophagus is separated in two with both the upper and lower portions ending in blind pouches. This is sometimes referred to as pure esophageal atresia and accounts for approximately 8 percent of cases.
The lower segment of the esophagus ends in a blind pouch and the upper segment is connected to the trachea via a TEF. This form is rare, accounting for approximately 2 percent of cases.
The upper segment of the esophagus ends in a blind pouch and the lower segment is connected to the trachea via a TEF. This is the most common type of EA/TEF occurring in approximately 85 percent of individuals.
A TEF is present connecting both the upper and lower segments of the esophagus to the trachea. This is the rarest form of EA/TEF affecting less than 1 percent of cases.
In this form, the esophagus is intact and connects normally to the stomach. However, a TEF is present connecting the esophagus and the trachea. This is also known as H-type fistula. (4 percent).
EA/TEF occurs as a result of a developmental failure during early fetal (embryonic) growth. The reason this failure occurs is not fully understood. Isolated (nonsyndromic) EA/TEF is believed to occur due to the combination of multiple different factors (multifactorial inheritance). Such factors can potentially include genetic, environmental, and immunological ones. However, no specific contributing factors have been identified. Most cases of isolated EA/TEF occur sporadically and the risk of recurrence in subsequent pregnancies is less than 1 percent.
EA/TEF can also occur as part of a larger genetic syndrome such as CHARGE syndrome, Feingold syndrome, anophthalmia-esophageal-genital (AEC) syndrome, Pallister-Hall syndrome, Fanconi anemia, chromosome 22q deletion syndrome, or chromosomal disorders such as trisomy 18, trisomy 13, or Down syndrome (trisomy 21). These disorders are due to specific genetic mutations or chromosomal abnormalities.
Non-isolated EA/TEF refers to cases of EA/TEF that occur along with other congenital defects, but without a known genetic defect. Heart defects are the most common associated congenital defect. Some individuals with non-isolated EA/TEF have VACTERL/VATER association. This disorder is a non-random association of birth defects, most likely due to, as yet unidentified, genetic factors. The term VACTERL/VATER is an acronym; the “TE” stands for (t)racheoesophageal fistula and (e)sophageal atresia.
EA and TEF affect males and females in equal numbers. The incidence is estimated to be approximately 1 in 4,000 live births in the United States. The majority of cases are sporadic/non-syndromic. Familial (syndromic) cases account for less than 1 percent of all cases. EA/TEF is present at birth (congenital).
The diagnosis of EA may be suspected before birth because of the presence of a small or absent stomach bubble on a routine ultrasound examination performed after the 18th week of pregnancy. The presence on an ultrasound of excessive amounts of amniotic fluid (polyhydramnios) raises further suspicion of EA. However, polyhydramnios alone is a poor indicator of EA because polyhydramnios has numerous, varied causes. In cases where EA/TEF is not suspected or detected before birth, it may be suspected within a few hours of birth when an affected newborn is unable to swallow, has excessive mucous, or has breathing difficulties.
Clinical Testing and Work-Up
The diagnosis of EA/TEF is confirmed by attempting to pass a nasogastric tube (a tube that runs from the nose to the stomach via the esophagus) down the throat of infants who have require excessive suction of mucus, or are born to mothers with polyhydramnios, or, if earlier signs are missed have difficulty feeding. In infants with EA, the tube will proceed no farther than 10-12cm from the mouth. Because a nasogastric tube may coil at the bottom of the obstructed esophagus, a plain x-ray of the chest and abdomen will confirm a diagnosis of EA by determining the position of the nasogastric tube. A plain abdomen x-ray can also demonstrate gas in the stomach and intestines, which is indicative of a TEF. Lack of gas in the abdomen is suggestive of isolated esophageal atresia (Type A).
Because 50 percent of infants with EA/TEF also have other birth defects, additional tests should be performed to rule out or identify associated birth defects. For example, infants with EA/TEF should receive an echocardiogram to rule out any heart defects that are potentially associated with these disorders. An echocardiogram ideally should be conducted before surgery to repair an EA because the presence of certain heart defects, such as a right sided aortic arch, can influence how best to perform the surgery. During an echocardiogram, sound waves are directed toward the heart, enabling physicians to study cardiac structure, function and motion.
Treatment may require the coordinated efforts of a team of specialists. Pediatric surgeon, pediatrician, cardiologists, speech therapist, intensive care specialists and nurses, and other healthcare professionals may need to systematically and comprehensively plan a program for the child’s treatment and ongoing care. Treatment is best performed at tertiary referral hospitals that are well versed in treating these conditions.
EA/TEF requires surgical correction. Before surgery, affected infants should receive a thorough clinical evaluation for any potentially associated congenital defects, especially heart defects. In most cases, surgery is performed shortly after birth. However, surgery may be delayed in infants with certain additional congenital defects, pneumonia or in cases of isolated atresia where the gap between the two ends of the esophagus is too large for primary repair.
While awaiting surgery, supportive care to prevent aspiration is necessary. A suction catheter is placed in the pouch at the end of the upper portion of the esophagus. A catheter is a hollow flexible tube. The suction catheter continually sucks out secretions that accumulate in the pouch to prevent aspiration. Broad spectrum antibiotics may be given to the infant if sepsis or pulmonary infection is present or suspected. In infants with respiratory failure, additional measures such as assisted ventilation may be required but should be used with extreme caution.
A few risk classification systems have been developed to help assess EA/TEF. The prognosis regarding these conditions has continually and significantly improved for many years. One such system is the Spitz classification:
Group 1 – birth weight greater than 1,500 grams (approximately 3.3 pounds) and no major heart defect
Group 2 – birth weight less than 1,500 grams or major heart defect
Group 3 – birth weight less than 1,500 grams and a major heart defect
The survival rate for a full-term infant with EA/TEF and no associated cardiovascular abnormalities (Group 1) is near 100%. Group 2 is approximately 82% and group 3 is approximately 50%.
In the majority of cases, surgery to reconnect the two segments of the esophagus and close the TEF is performed within the first 24-48 hours of birth. Surgery for EA/TEF requires the chest to be opened to allow disconnection of the fistula and closure of the resulting hole in the trachea. The esophagus is repaired through a procedure called anastomosis, in which the two separate segments of the esophagus are surgically reconnected. The procedure is increasingly performed by “key-hole surgery” by specially trained and experienced pediatric surgeons.
In some cases, the gap between the upper and lower segments of the esophagus is too large to permit the two segments to be reconnected. This is referred to as long-gap esophageal atresia. Surgery is delayed to allow the continued growth of the esophagus which may take up to 3 months. In the interim, a gastrostomy (a tube inserted directly into the stomach through the abdominal wall) is used for feeding and the upper pouch is sucked out to prevent aspiration. Treatment for long gap esophageal atresia is complex. Several different surgical procedures have been created to treat long-gap esophageal atresia. Most researchers advocate procedures that use the child’s own esophagus (if possible) such as delayed primary anastomosis rather than procedures that require substitute tissue obtained from elsewhere in the body.
The Foker technique, which is controversial, involves stimulating the two ends of the esophagus to grow until they are close enough to allow surgical reconnection. This procedure requires at least two operations. The first involves attaching traction sutures to appropriate ends of the two segments of the esophagus. Over the course of several weeks, the tension of these sutures is increased (to encourage the ends of the two segments to grow). A second operation will be performed, when the gap has sufficiently narrowed, to remove the sutures and surgically join the two segments of the esophagus together.
Additional techniques used to treat long gap EA are the gastric pull-up and colonic or jejunum interposition. With gastric pull-up the stomach is repositioned and “pulled-up” and attached directly to the esophagus in the neck. With colonic interposition, a section of the colon is detached with its blood supply and used to bridge the gap between the upper and lower segments of the esophagus, creating one “esophageal tube” running from the mouth to the stomach. In jejunum interposition, a section of the jejunum (the middle portion of the small intestine) is used instead of a piece of the colon.
Additional treatment is symptomatic and supportive. For example, treatment for conditions potentially associated with EA/TEF such as tracheomalacia, cardiac defects or gastroesophageal reflux follow standard treatment guidelines.
Several side effects are associated with surgery to correct EA/TEF including those that occur within days or weeks of surgery such as a leak at the site of anastomosis, abnormal narrowing (stricture) near the site of anastomosis, and recurrence of the TEF.
As the treatment of EA/TEF has improved over the years, more individuals are reaching adulthood and researchers are seeking to identify potential long-term complications associated with therapy for EA/TEF during infancy. Some degree of esophageal dysmotility, a condition where the smooth muscle of the esophagus contracts in an uncoordinated fashion, is invariably present. This affects the normal mechanism that propels food down the esophagus and to the stomach (motility) and results in swallowing difficulties. Esophageal dysmotility can contribute to the development of gastroesophageal reflux disease (GERD), a common finding in individuals who have undergone esophageal repair. Gastroesophageal reflux is a condition in which the stomach contents flow backward into the esophagus. GERD can cause swallowing problems, recurrent chest infections, heartburn and other symptoms and may lead to inflammation of the esophagus (esophagitis), Barrett’s esophagus, and respiratory complications such as asthma. Affected children often experience recurrent chest infections particularly in the first few years after the repair.
In 2017, the U.S. Food and Drug Administration (FDA) authorized the Flourish pediatric esophageal atresia device under the Humanitarian Device Exemption (HDE) for the treatment of pediatric esophageal atresia. This device is a non-surgical tool for repair of the esophagus in infants under one year of age with esophageal atresia without a TEF or for whom a TEF has been closed with a prior procedure. The device consists of two tubes with magnets; one tube is inserted through the mouth and the other through the stomach. The magnetic ends of the tubes attract one another and pull the ends of the esophagus together. Over several days, the gap between the upper and lower esophagus is closed and the surrounding tissue grows together. This device is manufactured by Cook Medical.
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