Etiopathology of Esophageal Duplication Cysts
Esophageal duplication cysts are benign congenital malformations that result from an error in embryonic development of the foregut, specifically arising from aberrant recanalization of the esophagus during the 4th to 8th weeks of gestation. 1, 2, 3
Embryologic Origin
The fundamental defect occurs during the 3rd to 4th week of gestation when the posterior division of the embryonic foregut fails to develop normally. 3
These cysts develop from faulty intrauterine recanalization of the esophagus during weeks 4-8 of embryonic development. 2
The cysts are located either within or adjacent to the wall of the gastrointestinal tract and are characteristically lined with gastrointestinal epithelium. 1
Structural Characteristics
Duplication cysts typically do not communicate with the gastrointestinal lumen, which explains why they can progressively enlarge over time. 1
The cysts appear as anechoic, smooth, spherical or tubular structures with well-defined walls on imaging studies. 1, 4
Pathologically, these lesions must meet the Ladd and Gross criteria for diagnosis: they contain gastrointestinal epithelium (similar to the originating site) and contain mucoid fluid secreted from this epithelium. 1, 5
The epithelial lining can vary, with some cysts showing pseudostratified ciliated columnar epithelium while others demonstrate stratified squamous epithelium. 6
Clinical Implications of the Pathogenesis
Because duplication cysts do not communicate with the esophageal lumen, they can enlarge progressively, resulting in mass effect, rupture, or bleeding. 1
The congenital nature explains why approximately 80% are diagnosed in childhood, though symptomatic presentation in adults remains rare (<7%). 5
When acute symptoms develop in adults, they are typically due to complications including intracystic hemorrhage, perforation, or infection—particularly in cysts that develop communication with the esophagus. 5
The most common location is the distal esophagus, accounting for the majority of cases, which reflects the embryologic development pattern of the foregut. 2