Introduction Although the spectrum of congenital esophageal malformations is well documented, congenital esophageal shortening with intrathoracic stomach is a rare anomaly that poses significant diagnostic and surgical challenges. Case Presentations Three neonates with prenatally suspected hiatal hernias were found postnatally to have a severely shortened or absent esophagus without atresia, along with intrathoracic stomach. In addition to large hiatal hernias containing multiple abdominal organs and aberrant vascular anatomy, the patients displayed three distinct anatomical esophageal variants. Patient 1 was found to have a moderately short esophagus with a gastroesophageal junction between the carina and diaphragm, which was subsequently treated with esophagogastric disconnect, and construction of a Roux-en-Y esophagojejunostomy. Distinctly, patient 2 was found to have a severely shortened esophagus ending above the carina, which was treated with esophagogastric disconnect and esophagostomy, and is scheduled for esophageal reconstruction via supercharged jejunal interposition. Patient 3, the most extreme case, was found to have complete absence of the esophagus and a fully intrathoracic stomach connected directly to the pharynx, termed “gastrophagus”. In a staged fashion, following gastrophagus transection and tubularization and CDH repair, the patient's neo-esophagus was constructed via a roux-en-Y jejunal interposition. Conclusions Congenital hiatal hernia with esophageal shortening represents a spectrum of rare foregut anomalies that require individualized surgical care.
Benavente et al. (Mon,) studied this question.