Esophageal atresia

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Esophageal atresia
Other namesOesophageal atresia
Atrezja.jpg
Common anatomical types of esophageal atresia

a) Esophageal atresia with distal tracheoesophageal fistula (86%), Gross C.
b) Isolated esophageal atresia without tracheoesophageal fistula (7%), Gross A.
c) H-type tracheoesophageal fistula (4%), Gross E. [1]
Specialty Pediatrics

Esophageal atresia is a congenital medical condition (birth defect) that affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach. It comprises a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. It is characterized anatomically by a congenital obstruction of the esophagus with interruption of the continuity of the esophageal wall. [2]

Contents

Pathophysiology

The genetic causes of EA/TEF include chromosome anomalies or variants in genes involved in critical developmental processes which are dosage sensitive. Several EA/TEF risk genes have been discovered include the transcriptional regulators SOX2, MYCN, CHD7, FANCB, and members of FOX transcription factor family. [3]

Others plausible candidate genes in the etiology of EA/TEF were identified as APC2, AMER3, PCDH1, GTF3C1, POLR2B, RAB3GAP2, and ITSN1. [4]

Signs and symptoms

Plain X-ray of the chest and abdomen showing a feeding tube unable to move beyond an upper esophageal pouch. Pouch atresia.jpg
Plain X-ray of the chest and abdomen showing a feeding tube unable to move beyond an upper esophageal pouch.
Plain x-ray with contrast in the upper esophagus above the atresia. Esophageal atresia contrast.png
Plain x-ray with contrast in the upper esophagus above the atresia.

This birth defect arises in the fourth fetal week, when the trachea and esophagus should begin to separate from each other. [5]

It can be associated with disorders of the tracheoesophageal septum. [6]

Complications

Any attempt at feeding could cause aspiration pneumonia as the milk collects in the blind pouch and overflows into the trachea and lungs. Furthermore, a fistula between the lower esophagus and trachea may allow stomach acid to flow into the lungs and cause damage. Because of these dangers, the condition must be treated as soon as possible after birth resulting in emergency neonatal surgery. [7] [8]

Associated birth defects

Other birth defects may co-exist, particularly in the heart, but sometimes also in the anus, spinal column, or kidneys. This is known as VACTERL association because of the involvement of Vertebral column, Anorectal, Cardiac, Tracheal, Esophageal, Renal, and Limbs. It is associated with polyhydramnios in the third trimester. [9]

Diagnosis

This condition may be visible, after about 26 weeks, on an ultrasound. On antenatal USG, the finding of an absent or small stomach in the setting of polyhydramnios was considered a potential symptom of esophageal atresia. However, these findings have a low positive predictive value. The upper neck pouch sign is another sign that helps in the antenatal diagnosis of esophageal atresia and it may be detected soon after birth as the affected infant will be unable to swallow its own saliva. [10]

On plain X-ray, a feeding tube will not be seen pass through the esophagus and remain coiled in the upper oesophageal pouch. [11]

Classification

This condition takes several different forms, often involving one or more fistulas connecting the trachea to the esophagus (tracheoesophageal fistula).

Gross [12] Vogt [13] Ladd [14] Name(s)DescriptionFrequency [1]
-Type 1-Esophageal Agenesis Very rare complete absence of the esophagus, not included in classification by Gross or LaddN/A
Type AType 2I"Long Gap", "Pure" or "Isolated" Esophageal AtresiaCharacterized by the presence of a "gap" between the two esophageal blind pouches with no fistula present.7%
Type BType 3AIIEsophageal Atresia with proximal TEF (tracheoesophageal fistula)The upper esophageal pouch connects abnormally to the trachea. The lower esophageal pouch ends blindly.2-3%
Type CType 3BIII, IVEsophageal Atresia with distal TEF (tracheoesophageal fistula)The lower esophageal pouch connects abnormally to the trachea. The upper esophageal pouch ends blindly.86%
Type DType 3CVEsophageal Atresia with both proximal and distal TEFs (two tracheoesophageal fistulas)Both the upper and lower esophageal pouch make an abnormal connection with the trachea in two separate, isolated places.<1%
Type EType 4-TEF (tracheoesophageal fistula) ONLY with no Esophageal Atresia, H-TypeEsophagus fully intact and capable of its normal functions, however, there is an abnormal connection between the esophagus and the trachea. Not included in classification by Ladd4%

Treatment

Surgical treatment of the condition. Esophageal Atresia for Website.jpg
Surgical treatment of the condition.
Schematic representation. Atrezja op.jpg
Schematic representation.

Treatments for the condition vary depending on its severity. The most immediate and effective treatment in the majority of cases is a surgical repair to close the fistula/s and reconnect the two ends of the esophagus to each other. Although this is usually done through an incision between the ribs on right side of the baby, a technique using three small incisions (thoracoscopy) is being used at some centers. [15]

In a minority of cases, the gap between upper and lower esophageal segments may be too long to bridge. In these situations traditional surgical approaches include gastrostomy followed by gastric pull-up, colonic transposition and jejunum transposition. [16] Gastric pull-up has been the preferred approach at many specialized centers, including Great Ormond Street (London) and Mott Children's Hospital (Ann Arbor). [17] Gastrostomy, or G-tube, allows for tube feedings into the stomach through the abdominal wall. Often a cervical esophagostomy will also be done, to allow the saliva which is swallowed to drain out a hole in the neck. Months or years later, the esophagus may be repaired, sometimes by using a segment of bowel brought up into the chest, interposing between the upper and lower segments of esophagus. [18]

In some of these so-called long gap cases, though, an advanced surgical treatment developed by John Foker, MD, [19] may be utilized to elongate and then join the short esophageal segments. Using the Foker technique, surgeons place traction sutures in the tiny esophageal ends and increase the tension on these sutures daily until the ends are close enough to be sewn together. The result is a normally functioning esophagus, virtually indistinguishable from one congenitally well formed. Unfortunately, the results have been somewhat difficult to replicate by other surgeons and the need for multiple operations has tempered enthusiasm for this approach. The optimal treatment in cases of long gap esophageal atresia remains controversial. [20]

Magnetic compression method is another method for repairing long-gap esophageal atresia. This method does not require replacing the missing section with grafts of the intestine or other body parts. Using electromagnetic force to attract the upper and lower ends of the esophagus together was first tried in the 1970s by using steel pellets attracted to each other by applying external electromagnets to the patient. In the 2000s a further refinement was developed by Mario Zaritzky's group and others. [21] The newer method uses permanent magnets and a balloon.

  1. The magnets are inserted into the upper pouch via the baby's mouth or nose, and the lower via the gastrotomy feeding tube hole (which would have had to be made anyway to feed the baby, therefore not requiring any additional surgery).
  2. The distance between the magnets is controlled by a balloon in the upper pouch, between the end of the pouch and the magnet. This also controls the force between the magnets so it is not strong enough to cause damage.
  3. After the ends of the esophagus have stretched enough to touch, the upper magnet is replaced by one without a balloon and the stronger magnetic attraction causes the ends to fuse (anastomosis). [22] [23] [24] [25]

In April 2015 Annalise Dapo became the first patient in the United States to have their esophageal atresia corrected using magnets. [22] [26]

Complications

Postoperative complications may include a leak at the site of closure of the esophagus. Sometimes a stricture, or tight spot, will develop in the esophagus, making it difficult to swallow. Esophageal stricture can usually be dilated using medical instruments. In later life, most children with this disorder will have some trouble with either swallowing or heartburn or both. Esophageal dismotility occurs in 75-100% of patients. After esophageal repair (anastomosis) the relative flaccidity of former proximal pouch (blind pouch, above) along with esophageal dysmotility can cause fluid buildup during feeding. Owing to proximity, pouch ballooning can cause tracheal occlusion. Severe hypoxia ("dying spells") follows and medical intervention can often be required.[ citation needed ]

Tracheomalacia a softening of the trachea, usually above the carina (carina of trachea), but sometimes extensive in the lower bronchial tree as well—is another possible serious complication. A variety of treatments for tracheomalacia associated with esophageal atresia are available. If not severe, the condition can be managed expectantly since the trachea will usually stiffen as the infant matures into the first year of life. When only the trachea above the carina is compromised, one of the "simplest" interventions is aortopexy wherein the aortic loop is attached to the rear of the sternum, thereby mechanically relieving pressure from the softened trachea. An even simpler intervention is stenting. However, epithelial cell proliferation and potential incorporation of the stent into the trachea can make subsequent removal dangerous.[ citation needed ]

The incidence of asthma, bronchitis, bronchial hyperresponsiveness, and recurrent infections in adolescent and adult esophageal atresia survivors far exceeds that of their healthy peers. [27] During the first decade of surgical repair of EA, as much as 20% of patients died from pneumonia. From there on, pneumonia has remained as a major pulmonary complication and a reason for readmissions after repair of EA. [27] [28] The risk factors of pneumonia within the first five years of life include other acute respiratory infections and high number of esophageal dilatations. [29]

Epidemiology

It occurs in approximately 1 in 3000 live births. [1]

Congenital esophageal atresia (EA) represents a failure of the esophagus to develop as a continuous passage. Instead, it ends as a blind pouch. Tracheoesophageal fistula (TEF) represents an abnormal opening between the trachea and esophagus. EA and TEF can occur separately or together. EA and TEF are diagnosed in the ICU at birth and treated immediately.[ citation needed ]

The presence of EA is suspected in an infant with excessive salivation (drooling) and in a newborn with drooling that is frequently accompanied by choking, coughing and sneezing. When fed, these infants swallow normally but begin to cough and struggle as the fluid returns through the nose and mouth. The infant may become cyanotic (turn bluish due to lack of oxygen) and may stop breathing as the overflow of fluid from the blind pouch is aspirated (sucked into) the trachea. The cyanosis is a result of laryngospasm (a protective mechanism that the body has to prevent aspiration into the trachea). Over time respiratory distress will develop.[ citation needed ]

If any of the above signs/symptoms are noticed, a catheter is gently passed into the esophagus to check for resistance. If resistance is noted, other studies will be done to confirm the diagnosis. A catheter can be inserted and will show up as white on a regular x-ray film to demonstrate the blind pouch ending. Sometimes a small amount of barium (chalk-like liquid) is placed through the mouth to diagnose the problems.[ citation needed ] However, performing such an oral contrast study is not advised due to a risk of aspiration. [30]

Treatment of EA and TEF is surgery to repair the defect. If EA or TEF is suspected, all oral feedings are stopped and intravenous fluids are started. The infant will be positioned to help drain secretions and decrease the likelihood of aspiration. Babies with EA may sometimes have other problems. Studies will be done to look at the heart, spine and kidneys. Surgery to repair EA is essential as the baby will not be able to feed and is highly likely to develop pneumonia. Once the baby is in condition for surgery, an incision is made on the side of the chest. The esophagus can usually be sewn together. Following surgery, the baby may be hospitalized for a variable length of time. Care for each infant is individualized. It's very commonly seen in a newborn with imperforate anus.[ citation needed ]

Related Research Articles

<span class="mw-page-title-main">Trachea</span> Cartilaginous tube that connects the pharynx and larynx to the lungs

The trachea, also known as the windpipe, is a cartilaginous tube that connects the larynx to the bronchi of the lungs, allowing the passage of air, and so is present in almost all animals with lungs. The trachea extends from the larynx and branches into the two primary bronchi. At the top of the trachea, the cricoid cartilage attaches it to the larynx. The trachea is formed by a number of horseshoe-shaped rings, joined together vertically by overlying ligaments, and by the trachealis muscle at their ends. The epiglottis closes the opening to the larynx during swallowing.

<span class="mw-page-title-main">Esophagus</span> Vertebrate organ through which food passes to the stomach

The esophagus or oesophagus, colloquially known also as the food pipe, food tube, or gullet, is an organ in vertebrates through which food passes, aided by peristaltic contractions, from the pharynx to the stomach. The esophagus is a fibromuscular tube, about 25 cm (10 in) long in adults, that travels behind the trachea and heart, passes through the diaphragm, and empties into the uppermost region of the stomach. During swallowing, the epiglottis tilts backwards to prevent food from going down the larynx and lungs. The word oesophagus is from Ancient Greek οἰσοφάγος (oisophágos), from οἴσω (oísō), future form of φέρω + ἔφαγον.

Tracheomalacia is a condition or incident where the cartilage that keeps the airway (trachea) open is soft such that the trachea partly collapses especially during increased airflow. This condition is most commonly seen in infants and young children. The usual symptom is stridor when a person breathes out. This is usually known as a collapsed windpipe.

<span class="mw-page-title-main">Fistula</span> Abnormal connection between two epithelialized surfaces, often organs

In anatomy, a fistula is an abnormal connection joining two hollow spaces, such as blood vessels, intestines, or other hollow organs to each other, often resulting in an abnormal flow of fluid from one space to the other. An anal fistula connects the anal canal to the perianal skin. An anovaginal or rectovaginal fistula is a hole joining the anus or rectum to the vagina. A colovaginal fistula joins the space in the colon to that in the vagina. A urinary tract fistula is an abnormal opening in the urinary tract or an abnormal connection between the urinary tract and another organ. An abnormal communication between the bladder and the uterus is called a vesicouterine fistula, while if it is between the bladder and the vagina it is known as a vesicovaginal fistula, and if between the urethra and the vagina: a urethrovaginal fistula. When occurring between two parts of the intestine, it is known as an enteroenteral fistula, between the small intestine and the skin as an enterocutaneous fistula, and between the colon and the skin as a colocutaneous fistula.

<span class="mw-page-title-main">Tracheoesophageal fistula</span> Medical condition

A tracheoesophageal fistula is an abnormal connection (fistula) between the esophagus and the trachea. TEF is a common congenital abnormality, but when occurring late in life is usually the sequela of surgical procedures such as a laryngectomy.

<span class="mw-page-title-main">Pediatric surgery</span> Medical subspecialty of surgery performed by pediatrics

Pediatric surgery is a subspecialty of surgery involving the surgery of fetuses, infants, children, adolescents, and young adults.

Atresia is a condition in which an orifice or passage in the body is closed or absent.

<span class="mw-page-title-main">Imperforate anus</span> Birth defect of malformed rectum

An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies. The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs. Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.

<span class="mw-page-title-main">Esophagectomy</span>

Esophagectomy or oesophagectomy is the surgical removal of all or parts of the esophagus.

<span class="mw-page-title-main">VACTERL association</span> Medical condition

The VACTERL association refers to a recognized group of birth defects which tend to co-occur. This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.

<span class="mw-page-title-main">Duodenal atresia</span> Medical condition

Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies. Newborns present with bilious or non-bilous vomiting within the first 24 to 48 hours after birth, typically after their first oral feeding. Radiography shows a distended stomach and distended duodenum, which are separated by the pyloric valve, a finding described as the double-bubble sign.

The tracheoesophageal septum is an embryological structure. It is formed from the tracheoesophageal folds or ridges which fuse in the midline. It divides the oesophagus from the trachea during prenatal development. Developmental abnormalities can lead to a tracheoesophageal fistula.

A tracheo-esophageal puncture is a surgically created hole between the trachea (windpipe) and the esophagus in a person who has had a total laryngectomy, a surgery where the larynx is removed. The purpose of the puncture is to restore a person’s ability to speak after the vocal cords have been removed. This involves creation of a fistula between trachea and oesophagus, puncturing the short segment of tissue or “common wall” that typically separates these two structures. A voice prosthesis is inserted into this puncture. The prosthesis keeps food out of the trachea but lets air into the esophagus for oesophageal speech.

<span class="mw-page-title-main">Bronchomalacia</span> Medical condition

Bronchomalacia is a term for weak cartilage in the walls of the bronchial tubes, often occurring in children under a day. Bronchomalacia means 'floppiness' of some part of the bronchi. Patients present with noisy breathing and/or wheezing. There is collapse of a main stem bronchus on exhalation. If the trachea is also involved the term tracheobronchomalacia (TBM) is used. If only the upper airway the trachea is involved it is called tracheomalacia (TM). There are two types of bronchomalacia. Primary bronchomalacia is due to a deficiency in the cartilaginous rings. Secondary bronchomalacia may occur by extrinsic compression from an enlarged vessel, a vascular ring or a bronchogenic cyst. Though uncommon, idiopathic tracheobronchomalacia has been described in older adults.

Double aortic arch is a relatively rare congenital cardiovascular malformation. DAA is an anomaly of the aortic arch in which two aortic arches form a complete vascular ring that can compress the trachea and/or esophagus. Most commonly there is a larger (dominant) right arch behind and a smaller (hypoplastic) left aortic arch in front of the trachea/esophagus. The two arches join to form the descending aorta which is usually on the left side. In some cases the end of the smaller left aortic arch closes and the vascular tissue becomes a fibrous cord. Although in these cases a complete ring of two patent aortic arches is not present, the term ‘vascular ring’ is the accepted generic term even in these anomalies.

A laryngeal cleft or laryngotracheoesophageal cleft is a rare congenital abnormality in the posterior laryngo-tracheal wall. It occurs in approximately 1 in 10,000 to 20,000 births. It means there is a communication between the oesophagus and the trachea, which allows food or fluid to pass into the airway.

Tracheal agenesis is a rare birth defect with a prevalence of less than 1 in 50,000 in which the trachea fails to develop, resulting in an impaired communication between the larynx and the alveoli of the lungs. Although the defect is normally fatal, occasional cases have been reported of long-term survival following surgical intervention.

<span class="mw-page-title-main">Mario Zaritzky</span>

Mario Zaritzky is MD, scientist and inventor and currently lives and works as an associate professor of Radiology at Jackson Memorial Center. Previously, he was an assistant professor in the Department of Pediatric Radiology Department of Radiology, University of Chicago in Chicago, Illinois, USA. Zaritzky coordinated the Argentine Network of Science in Midwestern, United States, from the Ministry of Science, Technology and Productive Innovation Programme of Argentina.

A urogenital fistula is an abnormal tract that exists between the urinary tract and bladder, ureters, or urethra. A urogenital fistula can occur between any of the organs and structures of the pelvic region. A fistula allows urine to continually exit through and out the urogenital tract. This can result in significant disability, interference with sexual activity, and other physical health issues, the effects of which may in turn have a negative impact on mental or emotional state, including an increase in social isolation. Urogenital fistulas vary in etiology. Fistulas are usually caused by injury or surgery, but they can also result from malignancy, infection, prolonged and obstructed labor and deliver in childbirth, hysterectomy, radiation therapy or inflammation. Of the fistulas that develop from difficult childbirth, 97 percent occur in developing countries. Congenital urogenital fistulas are rare; only ten cases have been documented. Abnormal passageways can also exist between the vagina and the organs of the gastrointestinal system, and these may also be termed fistulas.

<span class="mw-page-title-main">Mandibulofacial dysostosis-microcephaly syndrome</span> Medical condition

Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.

References

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