Primary spontaneous pneumothorax in conjunction with Marfan syndrome

Abstract

A 25-year-old man with a history of Marfan syndrome, asthma and smoking presented with worsening dyspnoea and right-sided chest pain worsened with deep breathing after a fall 2 days prior. Diagnostic imaging revealed a spontaneous right-sided pneumothorax due to ruptured subpleural bullae in the apex of the right lung. Smaller subpleural bullae were also noted in the apex of the left lung. A chest tube was placed to reduce the right pneumothorax successfully.

Background

Primary spontaneous pneumothorax (PSP) occurs when air enters the intrapleural space in a patient without a previous trauma or a history of lung disease. A common cause of PSP is the existence of pleural bullae due to subclinical lung disease. Tall, thin, male patients who smoke and are between the ages of 10 and 30 are at higher risk for developing PSP.¹ In this case, since the patient was previously a smoker and falls into the high-risk age group and gender, he had increased likelihood of developing PSP.

Initially, the resident on call did not comment on the bulla as the cause of pneumothorax or link the existence of bulla with the patient’s medical history of Marfan syndrome, so it is important to emphasise the need to identify the cause of a PSP.

Case presentation

A 25-year-old man presented to the emergency department with dyspnoea and right-sided chest pain worsened with deep breathing. He fell 2 days prior, and has a known history of Marfan syndrome with aortic root dilation and mitral valve prolapse. The patient also has asthma and was previously a smoker.

Investigations

Chest CT was obtained to determine the extent of the pneumothorax (figure 1).

Figure 1.

Axial, coronal and sagittal views of the chest in lung windows. There is a conglomerate of moderate to large right apical bullae. A large pneumothorax is present. Large bore chest tube in place.

Differential diagnosis

Diagnostic imaging revealed a spontaneous right-sided pneumothorax caused by ruptured subpleural bullae in the apex of the right lung. Smaller subpleural bullae were also noted in the apex of the left lung (figure 1). The most likely cause of the pneumothorax was rupture of the bullae caused by the fall 2 days prior.

Treatment

A chest tube was placed to reduce the pneumothorax, and the patient underwent bullectomy to address the bullae found on CT.

Outcome and follow-up

The patient tolerated the surgery well and was discharged with a stable apical pneumothorax.

Discussion

Studies have also shown that 5%–11% of patients with Marfan syndrome develop spontaneous pneumothorax caused by rib cage abnormalities or apical bullae due to fibrillin abnormalities that cause weakening of the connective tissue in the lungs.^{2 3} In addition, Saita et al ⁴ observed that patients with PSP have asymmetric and flat thoraces—a clinical feature also present in most patients with Marfan syndrome (pectus excavatum), which predisposes them to the formation of subpleural bullae. Studies have also shown that the risk of PSP is higher in patients with Marfan syndrome who have bullae that are detectable on CT scan.⁵

Learning points.

• Identifying the cause of primary spontaneous pneumothorax is extremely important for optimal treatment of the patient.

• Patients with Marfan syndrome are predisposed to the formation of subpleural bullae due to the shape of their thoraces and weakening of the connective tissue in their lungs.

• Radiologically detectable bullae should be surgically addressed to prevent primary spontaneous pneumothorax.