Esophageal malformations: causes, symptoms, diagnosis, treatment

Defects of the esophagus include its dysgenesis, which concern its shape, size and topographic relationship to the surrounding tissues. The frequency of these defects is on average 1:10,000, the sex ratio is 1:1. Esophageal anomalies may concern only one esophagus, but may also be combined with anomalies in the development of the trachea - a fact that is understandable if we take into account that both the esophagus and trachea develop from the same embryonic rudiments. Some esophageal anomalies are incompatible with life (the death of the newborn occurs several days after birth), others are compatible, but require certain interventions.

Congenital malformations of the esophagus include stenosis, complete obstruction, agenesis (absence of the esophagus), hypogenesis, concerning various parts of the esophagus, esophageal-tracheal fistula. According to the famous researcher of malformations P. Ya. Kossovsky, and English authors headed by the famous esophagologist R. Schimke, the most common combinations are complete obstruction of the esophagus with esophageal-tracheal fistula. Less common is a combination of esophageal stenosis with esophageal-tracheal fistula or the same combination, but without stenosis of the esophagus.

In addition to malformations of the esophagus itself, which condemn newborns to either rapid death from starvation or traumatic surgical interventions, congenital dysphagia may be caused by malformations of organs adjacent to the normal esophagus (abnormal origin of the right carotid and subclavian arteries from the aortic arch and from its descending part on the left, which predetermines the pressure of these abnormally located large vessels on the esophagus at the crossing point - dysphagia lussoria). I.S. Kozlova et al. (1987) distinguish the following types of esophageal atresia:

1. atresia without tracheoesophageal fistula, in which the proximal and distal ends end blindly or the entire esophagus is replaced by a fibrous cord; this form accounts for 7.7-9.3% of all esophageal anomalies;
2. atresia with esophageal-tracheal fistula between the proximal esophagus and trachea, accounting for 0.5%;
3. atresia with esophageal-tracheal fistula between the distal segment of the esophagus and the trachea (85-95%);
4. esophageal atresia with esophagotracheal fistula between both ends of the esophagus and the trachea (1%).

Esophageal atresia is often combined with other malformations, in particular with congenital defects of the heart, gastrointestinal tract, genitourinary system, skeleton, central nervous system, and with facial clefts. In 5% of cases, esophageal anomalies occur in chromosomal diseases, such as Edwards syndrome (characterized by congenital anomalies in children, manifested by paresis and paralysis of various peripheral nerves, deafness, multiple dysgenesis of internal organs, including chest organs) and Down syndrome (characterized by congenital mental retardation and characteristic signs of physical deformities - short stature, epicanthus, small short nose, enlarged folded tongue, "clown" face, etc.; 1 case per 600-900 newborns), in 7% of cases it is a component of non-chromosomal etiology.

Atresia of the esophagus. In congenital obstruction of the esophagus, its upper (pharyngeal) end ends blindly at about the level of the sternal notch or slightly lower; its continuation is a muscular-fibrous strand of greater or lesser length, passing into the blind end of the lower (cardiac) section of the esophagus. Communication with the trachea (esophageal-tracheal fistula) is often located 1-2 cm above its bifurcation. Fistula openings open either into the pharyngeal or cardiac blind section of the esophagus, and sometimes into both. Congenital obstruction of the esophagus is detected from the first feeding of the newborn and is especially pronounced if it is combined with an esophageal-tracheal fistula. In this case, this developmental defect manifests itself not only by obstruction of the esophagus, which is characterized by constant salivation, regurgitation of all swallowed food and saliva, but also severe disorders caused by fluid entering the trachea and bronchi. These disorders are synchronized with each swallow and manifest themselves from the first minutes of the child's life by coughing, choking, cyanosis; they occur with a fistula in the proximal esophagus, when fluid from the blind end enters the trachea. However, with an esophageal-tracheal fistula in the area of the cardiac section of the esophagus, respiratory disorders soon develop due to the fact that gastric juice enters the respiratory tract. In this case, persistent cyanosis occurs, and free hydrochloric acid is found in the sputum. In the presence of these anomalies and without emergency surgical intervention, children die early either from pneumonia or from exhaustion. The child can only be saved through plastic surgery; gastrostomy can be used as a temporary measure.

The diagnosis of esophageal atresia is established on the basis of the above-mentioned signs of aphagia, using probing and radiography of the esophagus with iodine contrast.

Esophageal stenosis with partial patency is mostly related to stenoses compatible with life. Most often, the narrowing is localized in the lower third of the esophagus and is probably caused by a violation of its embryonic development. Clinically, esophageal stenosis is characterized by a swallowing disorder, which manifests itself immediately when eating semi-liquid and especially dense food. X-ray examination visualizes a smoothly narrowing shadow of the contrast agent with a spindle-shaped expansion above the stenosis. Fibrogastroscopy reveals esophageal stenosis with an ampullar expansion above it. The mucous membrane of the esophagus is inflamed, in the area of stenosis it is smooth, without cicatricial changes. Esophageal stenosis is caused by food blockages of dense food products.

Treatment of esophageal stenosis involves widening the stenosis using bougienage. Food blockages are removed using esophagoscopy.

Congenital abnormalities of the size and position of the esophagus. These abnormalities include congenital shortening and expansion of the esophagus, its lateral displacements, as well as secondary diaphragmatic hernias caused by the divergence of the diaphragm fibers in its cardiac section with retraction of the cardiac part of the stomach into the chest cavity.

Congenital shortening of the esophagus is characterized by its underdevelopment in length, as a result of which the adjacent part of the stomach comes out through the esophageal opening of the diaphragm into the chest cavity. Symptoms of this anomaly include periodic nausea, vomiting, regurgitation of food with an admixture of blood, and the appearance of blood in the stool. These phenomena quickly lead the newborn to weight loss and dehydration.

The diagnosis is established using fibroesophagoscopy and radiography. This anomaly should be differentiated from esophageal ulcer, especially in infants.

Congenital dilatations of the esophagus are an anomaly that occurs extremely rarely. Clinically, it manifests itself as stagnation and slow passage of food through the esophagus.

Treatment in both cases is non-surgical (appropriate diet, maintaining an upright posture after feeding the child). In rare cases with severe functional disorders - plastic surgery.

Esophageal deviations occur with developmental anomalies of the chest and the occurrence of volumetric pathological formations in the mediastinum, which can displace the esophagus relative to its normal position. Esophageal deviations are divided into congenital and acquired. Congenital ones correspond to developmental anomalies of the thoracic skeleton, acquired ones, which occur much more often, are caused either by a traction mechanism resulting from some cicatricial process that has captured the wall of the esophagus, or by external pressure caused by diseases such as goiter, tumors of the mediastinum and lungs, lymphogranulomatosis, aortic aneurysm, spinal pressure, etc.

Esophageal deviations are divided into total, subtotal and partial. Total and subtotal esophageal deviations are a rare phenomenon that occurs with significant cicatricial changes in the mediastinum and, as a rule, are accompanied by cardiac deviation. The diagnosis is established based on an X-ray examination, which establishes cardiac displacement.

Partial deviations are observed quite often and are accompanied by deviations of the trachea. Usually, deviations occur in the transverse direction at the level of the clavicle. X-ray examination reveals the approach of the esophagus to the sternoclavicular joint, the intersection of the esophagus with the trachea, angular and arcuate curvatures of the esophagus in this area, combined displacements of the esophagus, heart and large vessels. Most often, deviation of the esophagus occurs to the right.

Clinically, these displacements themselves do not manifest themselves in any way, at the same time, the clinical picture of the pathological process causing the deviation can have its own significant pathological effect on the general condition of the body, including the function of the esophagus.

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