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Esophageal Cyst

Editor: Stacey R. Zavala Updated: 7/4/2023 12:06:53 AM


Esophageal cysts are rare congenital malformations first described by Blasius in 1711.[1] In 1881, Roth also described these cysts, which divide into two categories: simple epithelial-lined cysts or foregut cysts, which include duplication cysts. Esophageal duplication cysts have a double layer of surrounding smooth muscle, which are lined by squamous or enteric epithelium, and are either attached to the esophagus or located within the wall.[2][3][4][5] They are usually diagnosed in childhood but can also present in adults. Patients can be asymptomatic or present with symptoms of respiratory distress, dysphagia, and/or chest pain. Esophageal cysts are usually incidental findings on endoscopy or imaging studies such as computed tomography (CT), magnetic resonance imaging (MRI), or barium esophagogram. The most common treatment is thoracotomy with cyst excision, but less invasive techniques, including endoscopic, laparoscopic, or thoracoscopic approaches, are gaining popularity.


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The etiology of esophageal cysts is not clearly understood. The development of esophageal cysts is believed to result from a failure of vacuolization and budding of the primitive esophagus between weeks 4 to 8 of gestation, although no single unifying hypothesis has been able to elucidate why cysts occur at varying locations throughout the gastrointestinal tract.[6][7] They are most common on the right lateral aspect of the esophagus due to the embryologic pattern of rotation and lengthening of the intrathoracic viscera during development.[7]


Esophageal cysts are rare entities, as their incidence is reported to be 1 in 8200 live births with a 2 to 1 male predominance.[8] They account for approximately 10 percent of all mediastinal tumors in children, and an estimated 10 to 15 percent of all duplications cysts that occur in the alimentary tract stem from the esophagus.[9][10][11] As many as 80 percent of these cysts are diagnosed in childhood.[12]


As a result of the aberrant development of the posterior division of the primitive foregut during embryogenesis, esophageal cysts can occur anywhere along the esophagus. Approximately 60 percent of the cysts occur in the lower third of the esophagus, which results in compressive dysphagia being the most common presenting symptom. Posterior cysts, located in the lower third of the esophagus, have also been seen to cause cardiac arrhythmias.[13] The remaining cysts occur in the upper/middle third of the esophagus, where retrosternal chest pain and upper respiratory symptoms such as cough, stridor and wheezing, predominate.[12][14]

Approximately 90 percent of esophageal cysts do not communicate with the esophageal lumen; the others tend to run parallel to and communicate with the esophageal lumen.[9]


Duplication cysts may be cystic, tubular, or present as a diverticulum with the cystic type being more common.[15] The lining of the cysts can vary and can encompass stratified squamous, simple columnar, cuboidal, pseudostratified, and ciliated histology. There are reports of heterotopic tissue, including gastric and pancreatic mucosae along with mucosae resembling Peyer’s patches.[16]

History and Physical

Most esophageal cysts are diagnosed in early childhood but can also present in adults. Some esophageal duplication cysts may have correlations with concurrent vertebral abnormalities.[17] Symptoms stem from extrinsic compression or displacement of surrounding mediastinal structures. Symptoms reported include respiratory distress, vomiting, dysphagia, chest pain, and failure to thrive.[18][19] Hematemesis may also occur if there is ectopic gastric epithelium present.[20] Reports exist of neurological deficits, such as nerve root compression along with cervical motion res.[21] Malignancy can develop, albeit rarely.[22]

The differentials for esophageal duplication cysts include mediastinal cysts like bronchogenic cysts, pericardial cysts or cystic degeneration of mediastinal tumors or other cysts including hydatid cyst, Mullerian cysts.[23]


The workup and evaluation of esophageal cysts include imaging/diagnostic procedures guided by history and physical examination findings and specific histopathologic characteristics. Imaging studies such as chest radiographs and barium swallow studies can reveal a mediastinal mass with esophageal compression along with tracheal displacement and narrowing.[11]

Computed tomography (CT) of an esophageal cyst can reveal a fluid-filled cystic structure arising from the esophagus that does not enhance after intravenous administration of contrast material. A benefit of CT includes the ability to rule out a lung and thoracic vertebral pathology along with providing anatomical landmarks if pursuing surgical intervention.[24] Magnetic resonance imaging (MRI) can also show further anatomic detail. Routine endoscopy typically shows extrinsic compression of the esophageal lumen by the cyst with normal-appearing esophageal mucosa.

Endoscopic ultrasound (EUS) is the modality of choice to evaluate esophageal cysts. EUS can further characterize the echogenicity of the lesion.[12] It is a good tool to distinguish them from bronchogenic cysts by the absence of cartilage, proximity to the esophagus, and double muscle layer around them.[18][25] EUS also provides an opportunity to do an FNA of these lesions for confirming the nature of contents. Typically, EUS will reveal an anechoic homogenous lesion with smooth margins in the submucosal wall. The muscularis propria of the cyst is continuous with the muscularis of the esophagus. Some cysts may be hypoechoic or with heteroechoic lesions with an anechoic component due to the presence of pus, blood or thick contents may modify the EUS features and result in confusion with other soft-tissue lesions like stromal tumors.[26][27] EUS guided fine needle aspiration (FNA) has been used to confirm the diagnosis in patients with mediastinal cysts, but EUS FNA of duplication cysts may lead to infection despite using prophylactic antibiotics.[26] Hence, caution is needed when planning for EUS with FNA of an esophageal cyst. 

The criteria for classifying an esophageal cyst include the following [4][10]:

  1. The cyst is within or attached to the esophageal wall.
  2. Two muscle layers cover the cyst.
  3. The lining is squamous, columnar, cuboidal, pseudostratified, or ciliated epithelium.

The combination of imaging and histopathology contributes to the diagnosis of esophageal cysts.

Treatment / Management

Medical therapy serves no role in the management of esophageal cysts. Surgical removal is the treatment of choice in most symptomatic cases. Simple cysts show enucleation, whereas duplications get excised. Traditionally, a posterolateral thoracotomy was performed to remove the cyst. However, more recently, video-assisted thoracoscopic surgery (VATS) and robotic-assisted thoracoscopic surgery (RATS) are available to perform enucleation and resection with better cosmetic outcomes.[11][28] Also, endoscopic submucosal tunnel dissection (ESTD) is an option to excise an esophageal cyst less invasively, but long-term outcomes and complications after this procedure require further evaluation.[29][30] Laparoscopic resection has been described as well, with this method being more common with esophageal cysts that are continuous with the mediastinum and abdominal cavity.[31](B3)

In asymptomatic cases, there are currently no clear guidelines on whether or not treatment is warranted. Surgery can be an option to prevent cases of ulceration, perforation, and rare instances of malignancy.[12][18][22](B3)

Differential Diagnosis

  • Bronchogenic cyst
  • Cervical duplication cyst
  • Thyroglossal duct cyst
  • Neuroenteric cyst
  • Lipoma
  • Lymphangioma
  • Hemangioma
  • Anterior meningocele
  • Pericardial cyst


After treatment with full surgical enucleation and/or excision, patients overall do well both in the short term and long term. Recurrence is rare, but has been reported.[32]


The complications associated with esophageal cysts include heartburn, reflux esophagitis, rupture, obstruction, hemorrhage, infection, and malignancy.[28] Other complications related to esophageal cyst intervention include tracheal and esophageal injuries, pseudodiverticulum development, and nerve injury/paralysis.

Deterrence and Patient Education

Patients and family members should receive education about recognizing symptoms associated with esophageal cysts. If undergoing surgical intervention, patients should be informed and educated on any potential complications and have a follow-up visit scheduled with their physician.

Enhancing Healthcare Team Outcomes

The evaluation of esophageal cysts includes a thorough history, examination, diagnostic, and pathological testing. An interprofessional team, including primary care physicians, pharmacists, radiologists, gastroenterologists, surgeons, and specialty-trained nurses, can facilitate better recognition and management of esophageal cysts to prevent harmful outcomes and complications. The role of the nurse in the postoperative period is vital. Patients need both DVT and bedsore prophylaxis; nursing staff will be crucial in this regard, and must report any concerns to the treating clinician and interprofessional team. To prevent atelectasis, incentive spirometry should be encouraged. If the patient has a chest drain, the amount of air and fluid leak requires monitoring. [Level 5] Patient education is paramount. Length of follow-up after enucleation or excision varies, and there are no clear guidelines on whether or not surveillance imaging is necessary at this time.


(Click Image to Enlarge)
Esophageal cyst
Esophageal cyst
Image courtesy S Bhimji MD

(Click Image to Enlarge)
Esophageal cyst
Esophageal cyst
Image courtesy S Bhimji MD



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