Idiopathic muscular hypertrophy of the esophagus and esophagogastric junction outflow obstruction: cause or consequence?

Idiopathic muscular hypertrophy of the esophagus (IMHE) is a rare and benign esophageal disease characterized by hyperplasia of the esophageal wall, particularly the muscle layers. A 46-year-old woman presented with dysphagia to solids for many years and recent weight loss. Upper endoscopy was normal, but computed tomography (CT) scan revealed circumferentially thickened muscle layers of the distal esophageal wall and barium esophagogram raised suspicion towards neoplasia. High-resolution manometry diagnosed an esophagogastric junction outflow obstruction (EGJOO) with hypercontractile esophagus and endoscopic ultrasound (EUS) excluded neoplasia, confirming muscular hypertrophy of the distal esophagus. As symptoms maintained, she was proposed for and underwent Heller myotomy with Dor fundoplication with complete resolution of symptoms. EGJOO is an increasingly recognized manometric diagnosis and IMHE's presence in EGJOO as a cause or consequence is yet to be clearly determined. This case intends to raise awareness towards excluding pseudoachalasia in dysphagia patients and myotomy as a therapeutic tool in EGJOO.