Esophageal Atresia - Types, Causes, Symptoms, Diagnosis, and Treatment

Introduction:

Esophageal atresia is an abnormal developmental defect of the esophagus. It is mainly seen in newborn babies. It causes symptoms like coughing and gagging while feeding and the skin turning blue in color while attempting to feed. A physician examines the baby; if needed, X-rays and ultrasounds are performed for diagnosis. They are then managed surgically. Esophageal atresia is a congenital (from birth) abnormality where there is an unusual developmental defect in the esophagus (food pipe) in which the upper part of the esophagus does not connect with the lower part of the esophagus and the stomach. In addition, tracheoesophageal fistula is commonly seen in children with esophageal atresia. This causes the ingested fluid to seep into the trachea, causing interruptions in the breathing ability of the infant. It is an uncommon connection between the trachea and the esophagus.

What Causes Esophageal Atresia?

The causes of esophageal atresia involve multiple factors, including gene mutations and environmental factors. However, esophageal atresia and tracheoesophageal fistula together occur in other genetic abnormalities like CHARGE (coloboma, heart defects, atresia choanae, retarded growth, genital and ear abnormalities) syndrome, where there is trisomy 18 chromosomal abnormality or VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal abnormalities, and limb anomalies) association, where again, multiple factors play a role.

What Are the Types of Esophageal Atresia?

There are a few types of esophageal atresia based on where the malformation occurs.

• Type A - Isolated EA: In this type, there is no connection between the malformed esophagus and the trachea.

• Type- B - Esophageal Atresia With a Proximal TEF: The upper segment of the esophagus and the trachea are connected together in this type.

• Type - C - Esophageal Atresia (EA) With a Distal tracheoesophageal fistula (TEF): There is a connection between the lower segment of the deformed esophagus and the trachea.

• Type - D - Esophageal Atresia With a Proximal and Distal TEF: In this type, both the upper and lower segments of the deformed esophagus are attached to the trachea.

• Type - E - H-Type TEF With No EA: In this type, there is a connection between the trachea and the normal esophagus.

What Are the Symptoms?

Since there is an incomplete connection between the esophagus and the stomach, the ingested liquids by the infant seep into the trachea as there is an interlinking. This causes a few symptoms, like,

• Cough.

• Choking.

• Gagging while feeding.

• Presence of foamy mucus in the mouth.

• The skin becomes blue in color while trying to feed.

• Breathing difficulty.

• Drooling.

• Spitting up.

What Tests Are Done?

• Feeding Tube: The physician inserts a feeding tube into the mouth of the infant when the doctor suspects esophageal atresia, when the infant has trouble feeding, and when related symptoms like cough or choking occur.

• X-ray: X-ray uses high-frequency radio waves to obtain pictures of the targeted body part. It reveals any abnormality detected during this process in a picture format. The abnormal esophageal development is also seen in the X-ray.

• Ultrasound: In rare cases, a developmental esophageal anomaly will be detected during an ultrasound of the pregnant mother.

How Is It Treated?

• Surgical correction is the best method.

• Since it is a life-threatening condition, surgery to create a connection between the stomach and the esophagus is done as soon as the baby is delivered.

• In some cases of healthy babies, the surgery can be postponed to a few days.

• In infants with other genetic disorders or health issues during birth, there will be a delay in the surgery.

• Nutritional supplements will be administered through an intravenous route until surgery.

How Is Tracheoesophageal Fistula (TEF) Diagnosed?

• Ultrasound: Tracheoesophageal fistula is diagnosed when the pregnant mother is subjected to ultrasound. The stomach appears abnormally small, or the amniotic fluid may be visible excessively.

• This feature appears in both the cases of esophageal atresia and tracheoesophageal fistula. However, a detailed ultrasound will be performed if the previously mentioned feature occurs.

• Although a few abnormalities are detected, the diagnosis cannot be confirmed until the baby is delivered.

What Does Long Gap Esophageal Atresia Mean?

• In “long gap” esophageal atresia, as the name suggests, the gap or space between the two ends of the esophagus is enormous.

• This is a very rare condition and is managed surgically.

• However, surgery is not recommended as soon as the baby is born, as there is incomplete esophagus development.

• Surgery is performed initially to place the feeding tube directly into the baby's stomach.

• After a few months of waiting, or once the esophagus grows to the desired level, surgery is performed to attach both ends of the esophagus.

What Are the Complications?

• Most infants with esophageal atresia have other congenital comorbidities like heart disease, kidney disease, and spine problems.

• Even after surgery, a few infants with esophageal atresia develop a few complications, like,

  • Gastroesophageal Reflux Disease (GERD): GERD is a common gastrointestinal tract disease where the acid contents in the stomach move up to the esophagus, causing inflammation and a burning sensation.

  • Tracheomalacia: Tracheomalacia is a congenital deformity where the tracheal walls are floppy instead of being rigid. This causes breathing difficulties as soon as the baby is born.

  • Scar Tissue: Scar tissue is the accumulation of cells and collagen at the location of an injury.

How to prevent esophageal atresia?

This condition cannot be prevented as it has multiple factors involved. However, the risk of developing congenital abnormalities can be reduced by,

• Going for regular check-ups with the physician.

• Eating healthy foods.

• Exercising.

• Getting ample rest.

Although the risk of esophageal atresia is increased in,

• The child's father is old at the time of conception.

• Women who undergo fertility treatments like in vitro fertilization and intrauterine insemination.

What Is the Prognosis?

• The surgical outcome is good; most kids start taking foods or liquids a few weeks after the surgery.

• However, a few children may need additional surgeries for better breathing and feeding if they have any other developmental anomalies.

Conclusion:

Esophageal atresia is a congenital abnormality that affects the newborn feeding ability. It is sometimes associated with tracheoesophageal fistula, which causes breathing difficulties. Primarily surgery is performed to correct the defect by creating a connection between the stomach and the esophagus as soon as the baby is born since it is a life-threatening condition. Sometimes, when there is another developmental disease or condition, the surgery is delayed. However, detecting the defect soon and following the treatment protocol efficiently will improve the infant's feeding ability and improve the baby’s lifespan.