Esophageal atresia

Esophageal atresia is a birth defect in which part of a baby’s esophagus (the tube that connects the mouth to the stomach) does not develop properly. Esophageal atresia is a birth defect of the swallowing tube (esophagus) that connects the mouth to the stomach. In a baby with esophageal atresia, the esophagus has two separate sections—the upper and lower esophagus—that do not connect. A baby with this birth defect is unable to pass food from the mouth to the stomach, and sometimes difficulty breathing. Esophageal atresia often occurs with tracheoesophageal fistula, a birth defect in which part of the esophagus is connected to the trachea, or windpipe.

Schematic representation.

Epidemiology

Researchers estimate that about 1 in every 4,100 babies is born with esophageal atresia in the United States.1 This birth defect can occur alone, but often occurs with other birth defects.

Cause

The causes of esophageal atresia in most babies are unknown. Researchers believe that some instances of esophageal atresia may be caused by abnormalities in the baby’s genes. Nearly half of all babies born with esophageal atresia have one or more additional birth defects, such as other problems with the digestive system (intestines and anus), heart, kidneys, or the ribs or spinal column. However, various clues have been uncovered in animal models, particularly defects in the expression of the Sonic hedgehog (Shh) gene.

Inheritance

The vast majority of cases are sporadic and the recurrence risk for siblings is 1%.

Risk factors

• Paternal age – Older age of the father is related to an increased chance of having a baby born with esophageal atresia.
• Assisted reproductive technology (ART)external icon – Women who used ART to become pregnant have an increased risk of having a baby with esophageal atresia compared to women who did not use ART.

Types of Esophageal Atresia

There are four types of esophageal atresia: Type A, Type B, Type C and Type D. Type A is when the upper and lower parts of the esophagus do not connect and have closed ends. In this type, no parts of the esophagus attach to the [[trachea[[.

Type B is very rare. In this type the upper part of the esophagus is attached to the trachea, but the lower part of the esophagus has a closed end.

Type C is the most common type. In this type the upper part of the esophagus has a closed end and the lower part of the esophagus is attached to the trachea, as is shown in the drawing.

Type D is the rarest and most severe. In this type the upper and lower parts of the esophagus are not connected to each other, but each is connected separately to the trachea.

Signs and symptoms

Infants with esophageal atresia are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning. Associated anomalies occur in 50% of cases, the majority involving one or more of the VACTERL association anomalies (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects). In 86% of cases there is a distal tracheooesophageal fistula, in 7% of cases there is no fistulous connection, while in 4% of cases there is a tracheooesophageal fistula without atresia. The remaining cases are made up of patients with OA with proximal, or both proximal and distal, tracheooesophageal fistula.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Tracheoesophageal fistula

30%-79% of people have these symptoms

• Absence of stomach bubble on fetal sonography
• Bronchitis
• Chronic pulmonary obstruction
• Dysphagia(Poor swallowing)
• Esophagitis(Inflammation of the esophagus)
• Excessive salivation(Mouth watering)
• Failure to thrive in infancy(Faltering weight in infancy)
• Feeding difficulties in infancy
• Gastrointestinal dysmotility
• Immunologic hypersensitivity
• Oral aversion
• Recurrent respiratory infections(Frequent respiratory infections)
• Restrictive ventilatory defect(Stiff lung or chest wall causing decreased lung volume)
• Vomiting(Throwing up)

5%-29% of people have these symptoms

• Abnormal vertebral morphology
• Anorectal anomaly
• Aspiration
• Clinodactyly(Permanent curving of the finger)
• Cyanosis(Blue discoloration of the skin)
• Episodic respiratory distress(Episodic difficulty breathing)
• Gastroesophageal reflux(Acid reflux)
• Growth delay(Delayed growth)
• Laryngotracheomalacia
• Pallor
• Polyhydramnios(High levels of amniotic fluid)
• Pyloric stenosis
• Small for gestational age(Birth weight less than 10th percentile)
• Subglottic stenosis
• Vocal cord paresis(Weakness of the vocal cords)

Diagnosis

The diagnosis may be suspected prenatally by a small or absent stomach bubble on ultrasound scan at around 18 weeks of gestation. The likelihood of an atresia is increased by the presence of polyhydramnios. Inserting a nasogastric tube at birth allows the diagnosis to be confirmed or excluded and should be performed in all infants born to a mother with polyhydramnios, as well as in infants who produce excessive mucus soon after delivery. In OA, the tube will not progress beyond 10 cm from the mouth. Further confirmation is obtained by plain X-ray of the chest and abdomen.

Treatment

Once a diagnosis has been made, surgery is needed to reconnect the two ends of the esophagus so that the baby can breathe and feed properly. Multiple surgeries and other procedures or medications may be needed, particularly if the baby’s repaired esophagus becomes too narrow for food to pass through it; if the muscles of the esophagus don’t work well enough to move food into the stomach; or if digested food in the stomach consistently moves back up into the esophagus. Only very rarely will esophageal replacement be required.

NIH genetic and rare disease info

• NIH info on Esophageal atresia

Esophageal atresia is a rare disease.

Esophageal atresia Resources
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