Esophageal perforation is a challenging clinical condition that requires prompt diagnosis and management. Delay in identification and/or treatment results in high rates of morbidity and mortality. There are sharp differences in etiology, presentation, treatment, and outcome of cervical versus thoracic perforation of the esophagus. Most cervical perforations respond well to simple drainage alone. Although the treatment of thoracic esophageal perforations is individualized, most patients are candidates for primary repair regardless of the time to presentation or intervention. Improvements in endoscopic stent technology and increased experience with placement support this modality as a viable treatment option in cases of benign, malignant, and iatrogenic esophageal perforation.

Esophageal perforation usually is the result of iatrogenic injury caused by instrumentation (e.g., esophagoscopy, bougienage, and achalasia dilation)^1–3 (Table 48-1). The most common site for perforation of the normal esophagus is at its most proximal location, immediately above the cricopharyngeus muscle and below the inferior pharyngeal constrictor (Killian’s triangle). Injury at this location is most often caused by attempted forceful intubation of the esophagus for endoscopy (rigid or flexible) in a patient who is not sufficiently anesthetized. Other common sites of perforation include those in which the esophagus is normally narrowed (the distal esophagus), pathologically narrowed, or anatomically abnormal. Occasionally, intramural perforation can occur when the mucosa is sheared off the muscularis during endoscopy or bougienage. These conditions are not perforations in the truest sense, but present in a similar fashion and must be differentiated from frank perforation. Spontaneous perforation is a misnomer; it is more accurately termed barogenic perforation (Boerhaave syndrome). Blunt and penetrating trauma contributes only a small number of perforations.⁴ Foreign bodies, infections, and operative injuries are additional, although rare, causes worth noting.⁵

Pain is the most common complaint in patients presenting with esophageal perforation. In addition, cervical perforations can present with dysphagia, odynophagia, and dysphonia. Subcutaneous emphysema is often palpable in the neck. Pain from an intrathoracic perforation may be localized initially to the subxiphoid region, and hence may be misinterpreted as a myocardial infarction, aortic dissection, perforated duodenal ulcer, or pancreatitis. The pain also may be substernal, referred to the back, or poorly localized, and is usually severe. Dyspnea and anxiety are common associated findings. Tachycardia is also common, and fever develops early in the clinical course. Shock is rarely seen after cervical perforation because of local containment, whereas with free perforation into the pleural space, as often occurs with Boerhaave syndrome, rapid progression to shock may occur within 24 hours. Perforation by balloon dilation of achalasia similarly may result in a rapid and disastrous course if treatment is delayed. A small instrumental perforation, on the other hand, confined to the wall of the esophagus or situated in the mediastinum, may lead to a much slower development of symptoms. The key feature in the diagnosis of all esophageal perforations is a high index of suspicion. Prompt evaluation of patients with any of these findings or symptoms after endoscopy is most important because early diagnosis improves outcome.

A lateral plain neck film typically demonstrates air in the prevertebral space even early after cervical perforation (Fig. 48-1). Chest radiographs may show a pleural effusion, subcutaneous emphysema, pneumomediastinum, or pneumothorax. Radiographs soon after the event may be normal, although 75% of patients have abnormal films within 12 hours of presentation. Examination of the esophagus with contrast material is preferably done with water-soluble medium (Figs. 48-2 to 48-5). If the diagnosis is unclear or the definition is inadequate, dilute barium may be used sparingly. The overall false-negative rate in this setting is at least 10%.³ If perforation is still strongly suspected, a swallow study should be repeated several hours later, or another modality of investigation might prove more helpful. CT scans can aid in the diagnosis of esophageal perforation and identify late sequelae⁶; evidence of perforation may include extraluminal air, extravasation of contrast material, esophageal thickening, and communication of the air-filled esophagus with adjacent structures (Fig. 48-6). Oral or nasogastric tube contrast material can be administered just prior to CT scan, increasing its sensitivity. Planning the diagnostic evaluation with a radiologist is recommended to avoid the administration of contrast material that may delay the use of CT. Endoscopy is occasionally helpful, either to diagnose a perforation (usually in the context of trauma) or to assess the status of the esophagus in planning operative repair. Important information that can be determined by endoscopy includes the exact location of the tear, the presence of a stricture, or the extent of a carcinoma. If carefully performed with a flexible endoscope by an experienced endoscopist/surgeon, there is no additional risk to performing esophagoscopy when potentially important information can be gained.

Intramural perforations can be a source of confusion to the inexperienced radiologist or surgeon. These are usually caused by instrumentation; the mucosa is inadvertently sheared off the muscularis at the cricopharyngeus or a pathologically narrowed area. Intense pain is a common symptom. Barium swallow frequently demonstrates two lumens: the true lumen in which contrast material readily passes downward and a false lumen with contrast pooled in a dependent pouch (Fig. 48-7). CT imaging can help to clarify this diagnosis (Fig. 48-8). Critical to the early detection of esophageal perforation is the physician’s awareness of the possibility. Where instrumentation has preceded the development of any signs or symptoms, perforation must be suspected until proven otherwise.