Esophageal Malformations

• Incidence = 1 : 3000-4000 live births (varies geographically)
  
• Most common congenital anomaly is Esophageal atresia
• Prevelance of Esophageal atresia = 1.7 : 10k live births
  
• Associated with:
• Caucasian - European ancestry
• Advanced maternal age / 1st pregnancy (risk increased with IVF)
  
• Obesity
• Low SES
• Tobacco
• 50% have associated malformations/anomalies
• Often seen with VACTERL:
• Cardiac (32%)
• Vertebral (24%)
• Recurrence Risk
• 0.5-2% risk of recurrence in subsequent sibling of affected child
• 5 main types: (6 in surgical text)
  
• A: 8% -   blind upper and lower pouch - no fistula
  
• B: 1% -   upper pouch with fistula  - lower pouch no fistula
• C: 87% - blind upper pouch - lower fistula
• D: 1%  -  upper and lower fistulas but they do not connect to each other
• E:  4% -  H-type
  
• F: Congenital esophageal stenosis (surgical text)
• Waterson Risk and Survival Groups

• Group	Survival %	Birth Weight	Associated Findings
  A	100%	>2500g	otherwise healthy
  B	85%	2000-2500g	well or higher weight with moderate associated anomalies (non-cardiac anomalies plus patent ductus arteriosus, VSD, ASD)
  C	65%	<2000g	or higher weight with severe associated cardiac anomalies

  
  
• Genetics:
• 
  

• Gene	Function	Human Locus	Foregut Phenotype
  Shh	Signaling model Hedgehog family ligand	7q36	EA/TEF, lung anomalies
  FoxF1	Transcription Factor	16q24.1	EA/TEF, pulmonary vascular defects
  Gli2/Gli3	Zinc finger transcrition factors	Gli 2: 2q14 Gli3: 7p13	EA/TEF, lung agenesis
  Nog	BMP antagonist	17q22	EA/TEF
  Sox2	HMG type transcriptional regulator	3q26.3	EA/TEF; Anopthalmia-esophageal-genital syndrome (AEG)
  RAR a/b	Retinoic acid receptor	17q21.1	EA/TEF, lung hypoplasia or agenesis
  Tbx4	transcription factor	17q21-q22	TEF
  TTF-1 (Nkx2.1)	Thyroid transcription factor	14q13	TEF, lung anomalies
  Hoxc4	transcription factor	12q13.3	Obstructed esophageal lumen

• BMP = bone morphogenic protein, HMG = high mobility group
• Human Chromosomal and single-gene disorders associated with esophageal malformations

• Name	Gene	Locus	Esophageal defect
  VACTERL			EA/TEF
  Feingold Syndrome	MYCN	2p24.1	EA/TEF
  CHARGE	CHD7	8q12	EA/TEF
  Fanconi	FANCC FANCA	9p22.3	EA/TEF
  Oculo-auriculo-vertebral sequence (OAVS, Goldenhar syndrome		22q11	EA/TEF
  Trisomies 13, 18, 21			EA/TEF
  3p25 deletion			EA/TEF
  5p15 deletion			EA/TEF
  17q22q23.3 deletion			EA/TEF
  13q34 deletion			EA/TEF
  Opitz	MID1	Xp22	LTEC
  Pallister-Hall	GLI3	7p13	LTEC
  Anopthalmia-esophageal-genital (AEG)	SOX2	3q26.3-g27	LTEC

• LTEC = Laryngotracheoesophageal cleft
• CHARGE = Coloboma, Heart defects, Choanal atresia, Retardation of growth/devo, Genital anomalies, Ear defects/deafness
• 50% of EA/TEF are associated with other anomalies overall
• Presentation
• neonate with frothing, bubbling at mouth and nose
• episodes of coughing, cyanosis, and respiratory distress, worse with feeding
• regurgitation (Emesis)
  
• aspiration
• aspiration of gastric contents worse than aspiration of pharyngeal secretions
• Isolated TEF without EA may be seen later in life with chronic respiratory issues (bronchospasm and recurrent PNAs)
• Isolated EA will produce absence of intestinal air on plain films
• prenatal diminished or absent stomach bubble and polyhydramnios in mother suggest EA
  
• Failure to Pass NG Tube should prompt investigation for EA/TEF
• coiled NG in upper esophagus on plain films
• Distal fistula can produce progressive distention of abdomen with air
• H-Type (E) often missed early / Dx late:
• choking infant /resp distress with feeds
• recurrent PNA / wheeze
• Dx depends on visualization of fistula (endoscopy or barium esophagram)
  
• Dx
• H-type: esophagogram with contrast medium injected under pressure.
• Bronchoscopy may detect as well. (direct visualization)
  
• Endoscopy: Methylene blue injected into ET tube is seen in the esophagus during forced inspiration
• Differential Dx

• Anomaly	Age	Predominant Sx	Dx	Tx
  Isolated Atresia	Newborn	Regurgitation of feeding / Aspiration	Esophagram XR: gasless abdomen	Surgery
  EA/TEF (C: distal fistula)	Newborn	Regurgitation of feeding / Aspiration	Esophagram XR: gas-filled abdomen	Surgery
  H-type (E)	Infant - adult	Recurrent PNA Bronchiectasis	Esophagram Bronchoscopy	Surgery
  Esophageal Stenosis	Infants - adults	Dysphagia Food Impaction	Esophagogram / Endoscopy	Dilation Surgery
  Duplication Cyst	Infant- adults	Dyspnea, stridor, cough (infants) / Dysphagia, chest pain (adults)	EUS Upper GI / CT MRI	Surgical excision
  Vascular Anomaly	Infants - adults	dyspnea, stridor, cough (infants) / Dysphagia (adults)	Esophagogram, angiography, MRI,CT,EUS	Diet change, Surgery
  Esophageal Ring	Children - adults	dysphagia	esophagram endoscopy	dilation endoscopic excision
  Esophageal web	children - adults	dysphagia	esophagogram endoscopy	Bougienage

• Tx
• Surgery
  
• Cardiac Eval mandatory prior to repair
• Preop complications
• Pneumonitis from aspiration of upper pouch secretions and reflux of gastric acid through TEF leading to Respiratory distress
• sump catheter in upper pouch - continuous low pressure suction (double lumen replogle -perforations near tip allow suction of secretions not proximal O2)
• positioning  - head up prone position to minimize reflux (sitting upright second choice)
• Start Broad spectrum Abx and physiotherapy
• IV Fluids
• Vit K
  
• postop:
• 10-17% risk of anastomotic leak which can lead to salivary fistula, mediastinitis, pneumonitis
• 25-40% have GER 2/2 mid-esophageal peristalsis impairment
• 75% tracheomalcia
• Barrett's is a long term complication
• Recurrent infections postop should prompt investigation for recurrent or  missed fistula in older children
• TREATMENT GUIDELINES :
  
• https://naspghan.org/files/documents/pdfs/position-papers/ESPGHAN_NASPGHAN_Guidelines_for_the_Evaluation_and.19%20(1).pdfs
• Summary: https://iihoms.org/PediatricGastroenterology/EA-TEF_Guidelines.html
  

• appear as cysts, diverticulae, and tubular malformations
• Foregut duplications = 33% of al GI duplications (esophageal most common)
• Gastric mucosa frequently observed in duplications -irregardless of site
• usually affecting the distal half of esophagus on the Right side
  
• Presentation:
• Respiratory distress caused by compression of adjacent airways (neonate) Dysphagia (older child)
• Small cysts may be asymptomatic
• can lead to GI/bronchial hemorrhage and spinal meningitis if wall of duplication erodes 2/2 acid production
• Vertebral anomalies in 50% (esp seen with neuroenteric cysts containing glial cells)
  
• Dx:
• Upper GI or CT of chest
• difficulty distinguishing from bronchogenic cysts
• 3 criteria:

1. Close anatomical association with the esophagus The duplication must be located adjacent to or within the esophageal wall, confirming its origin from the foregut.

2. Presence of alimentary or respiratory epithelium The inner lining of the cyst or duplicated segment must consist of squamous, enteric, or tracheobronchial mucosa, indicating its embryologic derivation from the gastrointestinal or respiratory tract.

3. Surrounding smooth muscle layers The lesion must be enclosed by two layers of smooth muscle, which distinguishes it from other mediastinal cysts or masses

• Tx: Surgery - excision if symptomatic
  

• incidence (rare) 1:25k-50k live births
• results of incomplete separation of respiratory tract from the primitive foregut at 25th fetal day of life
• 33% assoc w/ EA&TEF
  
• 3 types:
• Esophageal membrane/web - membrane is least common
  
• Total bronchial remnants (TBR - tracheobronchial rest) - most common
• Distal: found within 3cm of gastric cardia
• Usually seen with obstruction
  
• Fibromuscular remnants (FMR)
• occur in middle 3rd (Webs also)
• fibromuscular stenosis has smooth wall 1-4cm in length, partial obstruction of lumen
  
• Presentation / Sx
• Higher lesions present with respiratory sx
• Lower lesion present with dysphagia / vomiting
• Majority present with dysphagia after introduction of solid foods
  
• Dx
• upper GI / Endoscopy
• MRI, CT, Endoscopic Ultrasound (EUS)
• Endoscopy is done to evaluate mucosal abnormalities like strictures, foreign bodies, and esophagitis
• DDx: obstruction can be caused extrinsically by enlarged mediatinal / subcarinal lymph nodes compressing the esophagus 2/2 infection or neoplasm
  
• also consider Dysphagia lusoria: developmental vascular anomaly compressing the esophagus producing dysphagia. usually aberrant R subclavian artery or right sided or double aortic arch
  
• Tx
• based on location, severity, type
• Surgery - excision with end-to-end anastamosis
  
• Bougie dilation -FMR and Webs

• mucosal membrane obstructing proximal esophageal lumen
• associated with TEF
• Female > Male
• Plummer-Vinson Syndrome webs, glossitis, Fe-def anemia, koilonychias (spoon nail)
• Can occur as complication to:
• epidermolysis bullosa
• cicatrical pemphigoid
• Stevens-Johnson syndrome
• psoriasis
• idiopathic Eosinophilic Gastroenteritis
• GVHD
• Summary
• An esophageal web is a congenital anomaly characterized by a thin mucosal membrane that partially occludes the esophageal lumen, most commonly in the proximal esophagus. These webs are more frequently observed in females and may present with dysphagia, especially for solid foods. Esophageal webs are often associated with other structural or functional abnormalities, including tracheoesophageal fistula (TEF) and Zenker diverticulum, suggesting a shared embryologic origin or predisposition. A notable clinical syndrome involving esophageal webs is Plummer-Vinson syndrome, which includes glossitis, iron deficiency anemia, and koilonychia (spoon-shaped nails), and is typically seen in middle-aged women. Additionally, esophageal webs may arise as inflammatory sequelae of various dermatologic and systemic conditions such as epidermolysis bullosa, cicatricial pemphigoid, Stevens-Johnson syndrome, psoriasis, idiopathic eosinophilic gastroenteritis, and graft-versus-host disease. Diagnosis is often made via endoscopy, during which the web is usually ruptured; however, in cases where the obstruction is more significant, esophageal dilation may be required to restore normal swallowing function

• concentric smooth thin (3-5mm) extension of normal esophageal tissue composed normally of mucsa, submoucosa and muscle
• 3 types:
• A-Ring: asymptomtic , muscular ring associated with hypertrophic smooth muscle found 1.5-2cm proximal to the z-line (squamocolumnar junction)
• B-Ring: Schatzki ring. mucosa-only, z-line (squamocolumnar junction) causes solid food dysphagia depending on the degree of narrowing
• associated with:
• Hiatal hernia
• GER
• EOE
• C-Ring: asymptomatic. Indentation caused by diphragmatic crura
• Dx
• Endoscopy or UGI series
• Tx
• Dilation or Surgical resection
• Summary:

• Esophageal rings are concentric, smooth, thin (typically 3–5 mm) extensions of normal esophageal tissue composed of mucosa, submucosa, and muscle. These structures partially encircle the esophageal lumen and are most commonly found in the distal esophagus. There are three distinct types of esophageal rings, each with unique anatomical and clinical characteristics. The A-ring is a muscular ring located approximately 1.5–2 cm proximal to the squamocolumnar junction (Z-line) and is typically asymptomatic; it is associated with hypertrophic smooth muscle and represents a physiologic contraction of the lower esophageal sphincter. The B-ring, also known as a Schatzki ring, is composed solely of mucosa and is situated precisely at the Z-line. This type is clinically significant as it can cause intermittent dysphagia to solid foods depending on the degree of luminal narrowing. B-rings are frequently associated with hiatal hernia, gastroesophageal reflux (GER), and eosinophilic esophagitis (EOE). The C-ring is an indentation caused by the diaphragmatic crura and is considered a non-pathologic finding; it is also asymptomatic and typically seen during imaging studies.

  Diagnosis of esophageal rings is achieved through upper gastrointestinal (UGI) series or endoscopy. Endoscopy not only allows direct visualization but also enables therapeutic intervention if necessary. Treatment depends on symptom severity and may include esophageal dilation or, in rare cases, surgical resection to relieve obstruction and restore normal swallowing function

• incorporate all layers of the esophagus
• Pulsion (epiphrenic) diverticula
• distal 3rd of esophagus
• caused by motor d/o (diffuse esophageal spasm, achalasia)
• contraindication to pneumatic dilation
• Traction Diverticula
• Middle 3rd
• rare in Peds
• caused by traction from mediastinal lymph node usually from TB or Histo
• Zenker's Diverticulum
• not true diverticulum but a pressure induced outpouching resulting from incoordinated contraction and relaxation of UES through the cricopharyngeus muscle
• may become large enough to compress the lumen of esophagus
• DO NOT accidentally enter a zenker diverticulum on endoscopy - it is only mucosa and is easily perforated!
• Summary
• 
  

  Esophageal diverticula are outpouchings of the esophageal wall that may involve all layers of the esophagus, classifying them as true diverticula. These anomalies are categorized based on their location and underlying pathophysiology. Pulsion diverticula, also known as epiphrenic diverticula, occur in the distal third of the esophagus and result from increased intraluminal pressure due to esophageal motility disorders such as diffuse esophageal spasm or achalasia. Because these conditions impair coordinated peristalsis and lower esophageal sphincter relaxation, pneumatic dilation is contraindicated due to the risk of perforation.

  Traction diverticula typically arise in the middle third of the esophagus and are more common in adults than in pediatric populations. These diverticula form when external inflammatory processes—most often mediastinal lymphadenitis from tuberculosis or histoplasmosis—exert traction on the esophageal wall, pulling it outward. Unlike pulsion diverticula, traction diverticula are usually asymptomatic unless the underlying cause is active.

  Zenker’s diverticulum, although often grouped with esophageal diverticula, is technically a false diverticulum because it involves only the mucosa and submucosa herniating through a weak area in the cricopharyngeus muscle at the level of the upper esophageal sphincter (UES). It results from discoordination between pharyngeal contraction and UES relaxation during swallowing, leading to increased pressure and mucosal outpouching. Zenker’s diverticula can enlarge significantly, potentially compressing the esophageal lumen and causing dysphagia, regurgitation, or aspiration. Importantly, during endoscopy, care must be taken not to inadvertently enter the diverticulum, as its thin mucosal wall is highly susceptible to perforation.

  Diagnosis of esophageal diverticula is typically achieved via barium swallow studies, which provide detailed visualization of the outpouchings, and may be confirmed with endoscopy. Treatment depends on the type and severity of symptoms, ranging from conservative management to surgical resection, especially in cases of large or symptomatic Zenker’s or epiphrenic diverticula

Feline Esophagus

• Feline esophagus refers to a radiologic finding seen during a double-contrast barium swallow study, characterized by transient transverse folds in the mid-to-lower esophagus. These folds resemble the normal mucosal pattern of a cat’s esophagus—hence the term “feline.” They are typically 1–2 mm thick, circumferential, and appear as horizontal bands across the esophageal lumen.
• This pattern is not pathological but is usually associated with active gastroesophageal reflux (GER). It’s believed to result from contraction of the muscularis mucosae, which shortens the esophagus and causes the mucosa to bunch up. Importantly, these folds are transient, appearing after reflux episodes and not during swallowing.
• Feline esophagus should be distinguished from more serious conditions like eosinophilic esophagitis, esophageal spasm, or scarring, which may present with similar but more persistent or thicker ring-like features. In pediatric radiology, recognizing this benign pattern helps avoid unnecessary interventions or misdiagnosis.

• First EA described in 1670 by William Durston in "A narrative of a monstrous birth in plymouth" which described a blind end upper esophageal pouch in the right infant of a set of thoracopagus-conjoined twins
• First EA/TEF described in 1697 by Thomas Gibson in "The Anatomy of humane bodies epitomized"
  
• sporadic cases reported throughout 1800's, realized to be associated with other anomalies and more common than previously thought
  
• possiblilty to repair reported in 1869 by Timothy Holmes (London) in "Surgical Management of Childrens Diseases. He said it might be possible to perform surgical esophageal anastamosis but did not think it should be attempted
• First attempt at surgical correction: 1888 Charles Steele (London) "Case of deficient Oesophagus" in the Lancet. Performed gastrotomy and attempted to perforate the "membrane" with a steel probe while pushing down on the uper pouch with a bougie. This was unsuccessful but allowed the realization that the 2 esophageal segments were 1-2inches apart without intervening connection
• Many more unsuccessful attempts: 1913 Richter (chicago) - mortality reamined 100%
• 1925 textbook of Thoracic Surgery, Lilienthal proposed anastomosis by tying each pouch segment over a rubber stent.
• 1936 - 1940 Thomas Lanman in Boston, Robert Shaw in Texas, and Paul Samson all performed primary anastamoses which survived 9 days, 12 days, and 12 hours respectively. Of 32 cases seen at Boston Childrens between 1929 and 1940, all died. Because many were found at autopsy to have died from causes related to care received post op and not as a direct complication of the surgery (PNA, mediastinitis) it was felt that progress was being made and operative success was just a matter of time
  
• The first successful operations were performed by:
• WIlliam Ladd (Boston) Nov 28, 1939 -gastrostomy with subsequent closure of the TEF w/ cervical esophagostomy. multiple operations required to create anterior skin-lined neoesophagus
• N Logan Levan (Minnesota) Nov 29, 1939 Gastrosomy, 1940 (weight increased from 2500g to 4630g) extrapleural ligation of fistula. Leven proposed antethoracic esophagoplasty to re-establish continuity of the GI tract
• Cameron Haight (U. Mich) 15 Mar 1941 - first successful primary repair of EA and TEF using extrapleural approach with fistula ligation and single-layered esophageal anastomosis
• day 6 anastomotic leak -resolved with medical treatment
• post-op stricture developed which responded to dilation
• Case presented at Central Surgical Association mtg Chicago (1942) published in 1943
• later modified procedure to R approach with 2-layer telescoping anastamosis
• ultimately cared for 284 infants with EA and reported an overall 52% survival rate
  

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