Esophageal atresia is a congenital impairment of the esophagus that usually requires surgical treatment. Therapeutic success is often good in this case.
What is esophageal atresia?
Esophageal atresia is a malformation of the esophagus. Among other things, esophageal atresia is characterized by a severely narrowed or completely absent connection between the esophagus and the stomach. As a result, food ingested by the affected person cannot reach the stomach naturally. Esophageal atresia, which is already congenital, can take different forms depending on the patient; in the vast majority of affected individuals (in approximately 85% of cases), esophageal atresia is associated with a connection (fistula) between the esophagus and trachea that does not correspond to healthy anatomy. Such a case is called esophageal atresia with tracheoesophageal fistula in medicine. This tracheoesophageal fistula may involve the problem of saliva or gastric juice entering the airway or air from the airway causing gastric distention. Various forms of esophageal atresia occur in an average of approximately 1 in 3,000 newborns. Boys are slightly more likely to have the developmental disorder than girls.
Causes
The causes of esophageal atresia are still largely unknown to medical science. However, it is assumed that the formation of esophageal atresia already begins in the fetus during the first weeks of pregnancy. The developmental disorder leads to a limited separation between the esophagus and the trachea in the affected fetus. This assumption is supported, among other things, by the high number of patients who, in addition to esophageal atresia, also have a fistula between the esophagus and trachea.
Symptoms, complaints, and signs
All forms of esophageal atresia cause severe discomfort to affected newborns and lead to death without treatment. Newborn infants suffering from esophageal atresia are first noticed by increased salivation. Furthermore, the baby suffers from extreme shortness of breath and severe coughing. The esophagus and trachea are connected by fistula formation. As a result, food residue always enters the trachea when the baby is fed. The skin and mucous membranes turn blue (cyanosis) because the body can no longer be supplied with sufficient oxygen. Artificial feeding via a stomach tube is not possible. It fails due to resistance because the connection between the esophagus and the stomach is either missing or insufficiently developed. In certain forms of esophageal atresia, the so-called aspiration pneumonias often occur, which are manifested by increased secretion and spasms of the bronchial musculature with increased dyspnea up to cyanosis. Since the condition in esophageal atresia is life-threatening for the infant, the strictures and fistulas must be removed surgically as a matter of urgency. Surgical treatment can ensure up to 90 percent survival of the infant. However, the success of treatment also depends on possible other organic malformations, which may affect the gastrointestinal tract, heart, kidneys, spine or extremities in addition to the esophagus.
Diagnosis and course
In many cases, the suspicion of an existing esophageal atresia can already be made during prenatal diagnostics (examinations of the fetus in the womb). Ultrasound images in particular are used for this purpose. In this context, an increased amount of amniotic fluid (also known as polyhydramnios in medicine) in the expectant mother can indicate esophageal atresia. However, the final diagnostic confirmation of esophageal atresia can usually only be made on the basis of an examination of the newborn with the help of a stomach tube and/or X-rays. Symptoms that may indicate esophageal atresia in a newborn include increased amounts of frothy saliva and severe coughing during feeding attempts. Successfully treated esophageal atresia in a newborn usually requires several years of follow-up treatment. Possible complications after treatment include, for example, slackening of the trachea or re-narrowing of the treated esophageal area. Especially in infants with a birth weight of more than 1500 g and an intact heart, esophageal atresia can be treated successfully in most cases.
Complications
If the esophagus is so severely deformed that food can no longer enter the digestive tract naturally, or if the connection between the esophagus and the stomach is completely missing, this disorder is fatal for the affected person if left untreated. Usually, however, the malformation can be corrected surgically. In cases of severe esophageal atresia, surgery is required in childhood. Complications are more frequently observed in this operation in children than in adults. On the one hand, a shrinkage of the suture site is to be expected, which can result in a stricture and a consequent obstruction in the intake of food. If scarring of the esophagus occurs as a result of surgery, this may have a similar effect. Furthermore, there is a risk of suture insufficiency, which is especially the case if a larger defect had to be corrected. In this case, there is also an increased risk of fistulas forming, which in the worst case may even affect the lungs. In addition, another risk specific to children also occurs more frequently. After surgical correction of esophageal atresia, follow-up procedures are often required because children have swallowed foreign bodies and, more often than not, these block the esophagus.
When should you see a doctor?
Esophageal atresia is a congenital disorder of the esophagus. Therefore, the first disorders and abnormalities occur immediately after birth. If there are irregularities during feeding or disturbances in respiratory activity, the newborn requires the fastest possible medical care. If there is a blue discoloration of the skin, a pale appearance, and impaired breathing, action is needed as soon as possible. A lack of strength or restrictions in the infant’s movements should be taken as a warning signal. If respiratory distress occurs, first aid measures must be taken by persons present, otherwise there is a risk of premature death. In most cases, childbirth takes place in the presence of obstetricians or medically trained personnel. Therefore, the first irregularities are already noticed by the care team and necessary steps are automatically initiated. If an abnormality is noticed during feeding of the infant, if there are irregularities in the swallowing act or increased salivation, there is a need for action. Since premature death can occur with this condition, professional action must always be taken quickly and without delay. If coughing occurs or ingested food items are immediately vomited, the infant requires medical attention. Peculiarities of the heart rhythm, visual abnormalities of the physique, and malformations must be examined more closely and treated.
Treatment and therapy
Esophageal atresia usually requires surgical intervention in the affected infant as early as possible. Prior to appropriate surgery, elevation of the upper body of a diseased infant is usually performed. A tube is then used to constantly aspirate saliva and other secretions that cannot be swallowed due to the presence of esophageal atresia. The surgical methods used to treat esophageal atresia in individual cases depend primarily on the form and extent of the malformation. For example, if the connection between the upper and lower portions of the esophagus is missing only over a comparatively short distance, this defect can often be repaired in a single operation. If the esophageal atresia requires a connection of the esophageal portions over longer distances, it is possible, for example, to initially lengthen the esophagus over a certain period of time or to replace missing portions with tissue from the intestine or stomach. Existing fistulas to the respiratory tract must be closed in order not to endanger breathing by penetrating foreign bodies.
Prevention
Because the exact causes of esophageal atresia are unknown, the developmental disorder is difficult to prevent. However, regular prenatal checkups can help detect evidence of esophageal atresia early. In this way, necessary medical measures can be taken quickly after the birth of an affected child.
You can do it yourself
In the presence of esophageal atresia, a hospital or specialized clinic should be visited promptly. In acute cases, the emergency physician should be alerted, as emergency surgery may need to be initiated immediately. After surgery, the sick child must take it easy. Moderate exercise is possible in consultation with the pediatrician, whereby the state of health is decisive. In addition, parents should follow the doctor’s instructions regarding wound care. If complications arise, it is best to inform the doctor immediately. Side effects and interactions should also be discussed with the specialist. In addition, it is important to determine the cause of the esophageal atresia and work with the physician to ensure that it does not become a medical emergency again. In most cases, the syndrome is congenital, which is why the usual newborn screening is sufficient as a diagnostic method in this case. The parents of the affected child should nevertheless watch out for unusual symptoms and inform the doctor in case of doubt. In addition, it may be useful to work through the stress associated with the condition as part of a therapy. This is particularly necessary in the case of a severe course of the disease.
