Atypical Presentation of Boerhaave Syndrome with Left Shoulder Pain as the Initial Manifestation: A Case Report

Introduction

Esophageal rupture is a rare condition that typically occurs in the absence of external trauma. Although rarely described in the literature, spontaneous esophageal rupture is a very serious condition that is frequently difficult to diagnose and adequately treat. This article provides an overview of esophageal rupture, its initial diagnosis, and appropriate management by reviewing information from previous medical publications.

Case Report

A 92-year-old Asian man was taken to the emergency department (ED) of our hospital by his family as he had severe soreness in his left shoulder that radiated to the left side of his chest; the pain developed while he was getting up by pulling on a bedside rail in the morning. His accompanying symptoms included a mild cough. The patient had experienced no recent discomfort and denied having any systemic illnesses apart from hypertension. Given the immediate temporal association with a forceful pulling maneuver, we considered the exertional Valsalva-like strain while rising in bed as a plausible trigger for a sudden spike in intra-esophageal pressure, an acknowledged precipitant of Boerhaave syndrome.

The ED doctor evaluated the degree of pain, which the patient reported as an 8 (on a 0–10 pain scale). Monitoring of vital signs revealed an elevated heart rate of 123 beats per minute, blood pressure of 106/57 mmHg, respiratory rate of 32 breaths per minute, and oxygen saturation (SpO2) of 96% on room air. The doctor also performed the initial physical examination; during the pulmonary auscultation, the breath sounds were normal, but during the cardiac auscultation, a suspected crunching sound known as Hamman’s sign was heard in synchrony with the heartbeat. A neurological assessment revealed no sensory or motor abnormalities and the Glascow Coma Scale (GCS) score was E4V5M6. The initial diagnosis was a muscle sprain of the left upper arm and shoulder. However, the initial workup included chest X-ray, electrocardiogram (ECG), and blood tests, with auscultation revealing a suspected “Hamman’s sign”, suggestive of mediastinal emphysema. Given the immediate temporal association with a forceful pulling maneuver, we considered the exertional Valsalva-like strain while rising in bed as a plausible trigger for a sudden spike in intra-esophageal pressure, an acknowledged precipitant of Boerhaave syndrome.

A chest X-ray and blood tests were obtained; a CT scan was subsequently performed. Radiolucent streaks on plain films suggested air in the neck’s soft tissues (Figure 1). Other findings included the presence of left pleural effusion and pulmonary consolidation opacities in the lower left lung. Laboratory data revealed elevated lymphocytes at 2.6% (reference range: 22–55%) and a slightly elevated white blood cell count of 11.16 K/μL (reference range: 4.0–11.0×103/μL). The differential white blood cell count was monocytes at 6.0% (reference range: 2.5–10%), neutrophils at 91.3% (reference range: 37–75%), segmented neutrophils at 75.0% (reference range: 40–60%), and band forms at 16.3% (reference range: 0–5%). These findings suggested the presence of an infection and possible sepsis. Additionally, C-reactive protein was significantly elevated, at 28.04 mg/dL (reference range: <1 mg/dL). Liver and renal function were normal, and electrolyte levels were nearly within the normal range. Cardiac workup included normal creatine phosphokinase-MB (CK-MB) of <10 U/L (reference range: <20 U/L), troponin I of <0.01 ng/mL (reference range: <19 ng/L), and NT-proBNP was markedly elevated at 4734 pg/mL (reference range: <450 pg/mL for patients ≥75 years).

The subsequent CT scan (Figures 2, 3) of the chest and abdomen showed a left loculated pleural effusion and a perforation of the esophagus, with formation of an abscess surrounding the perforation. Endoscopic examination (Figure 4) performed on the same day detected an esophageal perforation located 30 cm from the incisors in the mid-third locale. Moreover, active gastric ulcers with recent hemorrhage at the antrum were observed and classified as Forrest IIc. A gastric polyp measuring 0.5 cm was also detected at the fundus, as well as acute hemorrhagic gastritis affecting the body of the stomach. Moreover, there was evidence of a chronic duodenal ulcer with bulb deformity, classified as Forrest III.

Based on the ER evaluation, the patient was diagnosed with a mid-esophageal rupture, mediastinitis, and left empyema, and was admitted to our chest surgery ward. Surgery was initially considered due to the severity of the esophageal perforation. However, the patient refused to undergo any surgical intervention, including chest tube placement. Piperacillin/Tazobactam 4.5 g intravenously every 8 hours was administered as an empirical antibiotic to manage the mediastinitis. His condition deteriorated after admission to our ward and he exhibited intermittent drowsiness and a diminished cough reflex when suctioning sputum. Due to the severity of the situation, we explained the importance of emergency surgery to his family and they consented to surgery, which was performed 2 days after admission.

Video-assisted thoracoscopic surgery (VATS) was conducted to perform dissection and drainage. About 800 mL of purulent fluid was drained from the left thoracic cavity and the pleural adhesions were dissected without any issues. The endotracheal tube was removed on post-operative day 2 and the patient’s level of consciousness improved. Vancomycin 1 g intravenously every 12 hours was prescribed and the drainage tube on the left side of the chest was left in place.

However, the patient’s respiratory distress persisted, including frequent episodes of hypoxemia. Severe sepsis and low blood pressure developed over a period of several days. Therefore, he was transferred to the Intensive Care Unit (ICU) on hospital day 14 and placed on respiratory support and continuous venovenous hemofiltration (CVVH) for respiratory failure and declining renal function. After discussing the patient’s prognosis with his family, they signed a DNR and the patient died of respiratory failure due to a rupture 21 days after being admitted.

Discussion

The initial symptoms of spontaneous esophageal rupture include dysphagia, chest discomfort, and postprandial vomiting. However, these symptoms are also common in other diseases. Classically, Mackler’s triad of vomiting, acute chest pain, and subcutaneous emphysema raises concern for transmural esophageal rupture typical of Boerhaave syndrome, although it is present in only about 50% of cases [1]. Our patient had pain caused by pulling on a bedrail next to his bed. While a muscle strain was the initial consideration, the general examination suggested possible thoracic pathology and infection, prompting the need for advanced imaging such as CT. The presence of Hamman’s crunch on chest auscultation highlights the value of careful physical examination. Imaging like a chest X-ray or CT scan can indicate perforation, but they do not definitively identify an esophageal rupture in every case. However, radiographic studies are essential for diagnosing esophageal perforation. One of the possible indications of an esophageal rupture on a chest X-ray is air in the soft tissues of the neck, while other signs may include mediastinal emphysema or pleural effusion. In contrast, CT provides more detailed insights, such as detecting extraluminal air or abscesses [2].

Extraluminal air is observed in 92% of esophageal perforation cases and is the most commonly detected finding on CT scans in patients with esophageal or tracheobronchial rupture or penetrating trauma [3]. More precise diagnostic methods include upper endoscopy and esophagography (barium swallow), as these techniques directly visualize the defect and confirm any possible rupture [4]. Although useful for direct visualization, esophagoscopy is not always the first choice due to the risk of exacerbating small tears into larger perforations [5].

The risk of death in esophageal rupture is high, with mortality rates as high as 50% [6]. The heart and lungs should be the initial focus during treatment, as a sudden increase in esophageal pressure is often the cause of rupture and can have serious consequences for these vital organs [7]. The most frequently implicated precipitants are binge alcohol consumption and overeating; other triggers that acutely raise intra-esophageal pressure and should be considered include abdominal trauma, generalized seizures, heavy lifting or straining such as weight-lifting and defecation, and childbirth. Given the immediate temporal association with a forceful pulling maneuver, we considered the exertional Valsalva-like strain while getting up in bed as a plausible trigger for a sudden spike in intra-esophageal pressure, an acknowledged precipitant of Boerhaave syndrome [8,9].

The management approach depends on many factors, including the location, etiology, and the patient’s overall physical condition. Perforations can occur in various regions, including the cervical (27%), thoracic (54%), and abdominal (19%) segments of the esophagus [10,11], with spontaneous ruptures typically affecting the posterolateral wall of the esophagus [12]. Immediate management involves aggressive fluid resuscitation, broad-spectrum antibiotics, and nil per os (NPO) [13].

Cervical perforations are less likely to be fatal because they are contained by surrounding structures, and the treatment often includes drainage and primary repair via a left cervical incision [13]. In contrast, thoracic and abdominal perforations are associated with a poorer prognosis than cervical perforations and require rapid intervention, including surgical exploration, debridement, and repair [14]. Surgical management typically involves primary closure with or without autogenous tissue reinforcement. In cases of extensive contamination or hemodynamic instability, exclusion and diversion techniques such as esophagostomy or gastrostomy may also be necessary [2]. Non-surgical management has recently become more widely used due to advancements in endoscopic techniques, and includes NPO, antibiotics, drainage, and post-pyloric feeding. The goal of non-surgical management is to control sepsis, manage contamination, and enable closure of the perforation [14]. A 2017 study that assessed the therapeutic effectiveness of covered self-expanding stents (CSES) for spontaneous esophageal perforation reported leak closure in 50% of patients [15]. Additionally, when used as a first-line treatment, esophageal stenting has been successful, with high recovery rates in selected patients [16].

This case is notable due to its initial misleading symptoms, which led to a diagnostic delay. The initial misdiagnosis as a musculoskeletal injury reflected the lack of characteristic symptoms, highlighting the diagnostic difficulties associated with spontaneous esophageal rupture cases. Since rare illnesses can sometimes mimic benign musculoskeletal problems, it is important to have a broad differential diagnosis when evaluating individuals with unexplained pain. Some review articles reported that patients present with isolated neck pain, abdominal pain, fever, or respiratory distress, mimicking conditions such as myocardial infarction, pneumonia, or spontaneous pneumothorax [6,17]. In this case, the chief symptom of left shoulder pain the underscores variability of presentation and emphasizes the importance of maintaining a high level of suspicion in evaluating unexplained pain. Recognizing these atypical presentations is crucial for the early detection and treatment of esophageal rupture, as the condition carries a high mortality rate if left untreated. Even when a patient attributes symptoms to a musculoskeletal injury, such as an upper arm sprain, a thorough physical examination should be performed to rule out other serious conditions. Careful auscultation, with attention to findings such as Hamman’s sign, can be highly indicative. Detailed interpretation of chest X-ray and routine laboratory results is also essential. When there is strong suspicion of thoracic pathology, a thoracoabdominal CT scan should be performed, as CT offers higher sensitivity and specificity than plain radiography, allowing accurate detection of pneumomediastinum, pleural effusion, abscess formation, and organ rupture. Finally, the patient’s hesitation to undergo immediate surgery, despite the severity of the condition, ultimately led to disease progression, emphasizing the important role of early decision-making in such cases. The management of esophageal rupture in an older patient with several comorbidities was made more difficult by the high risks associated with both conservative and surgical treatment approaches. Because of these factors, this case serves as an informative demonstration of the difficulties in diagnosing and treating spontaneous esophageal rupture.

Conclusions

The evaluation and management of spontaneous esophageal rupture requires a comprehensive approach involving experienced physicians. Laboratory results, imaging studies, and surgical timing are key considerations requiring further assessment. Prospective advancements in diagnostic protocols and therapeutic methods are required to improve the prognosis and outcomes for patients with these life-threatening diseases.