Complete bilateral spontaneous pneumothorax at moderate altitude: emergency preparedness and diagnostic certainty beyond a rare case

This case describes a potentially fatal presentation of complete bilateral spontaneous pneumothorax occurring during recreational skiing at moderate altitude (1). The patient survived because of immediate recognition, appropriate emergency bilateral needle decompression by the mountain rescue services, and subsequent immediate transfer for definitive medical and surgical care. Therefore, this case is clinically valuable as a reminder of the importance of preparedness for acute thoracic emergencies in mountain and high-altitude settings.

Reductions of atmospheric pressure have been suggested as a potential risk factor for the onset of spontaneous pneumothorax (2-4). A reduction in barometric pressure at altitude can expand intrapleural gas according to Boyle’s law, potentially increasing the size of a pneumothorax and getting worse respiratory symptoms. These have been investigated in air travel and medical transport. Knotts et al. demonstrated predictable pneumothorax volume expansion during helicopter emergency medical service transport (5), and Majercik et al. reported an increase in traumatic pneumothorax size under simulated hypobaric conditions (6). Fitz-Clarke proposed a model of pneumothorax tolerance during flight, suggesting that gas expansion, hypoxemia, and altered respiratory mechanics may collectively influence clinical tolerance at altitude (7). In addition, spontaneous pneumothorax during altitude-chamber exposure and flight has been reported (8). These findings suggest that reduced atmospheric pressure may act as a precipitating or exacerbating factor for pneumothorax, particularly in individuals with subclinical blebs or bullae. The British Thoracic Society Clinical Statement on air travel recommends that passengers should not travel by air until 7 days after full radiographic resolution of pneumothorax, and that individuals at higher risk of recurrence should receive specific advice (9,10). Although the evidence of moderate altitude exposure to pneumothorax remains limited, it is biologically plausible from previous reports (5-8), particularly in people who have lung fragility. Therefore, public and medical awareness regarding the possibility of pneumothorax in high-altitude environments is important. Such awareness may contribute to earlier recognition, appropriate first aid, and improved outcomes in life-threatening situations. From this perspective, the present report has clear educational significance.

Another important aspect of this case is the subsequent diagnosis of Marfan syndrome. Marfan syndrome is a systemic connective tissue disorder that is associated with spontaneous pneumothorax as well as potentially fatal cardiovascular complications, including aortic aneurysm, aortic dissection, and mitral valve prolapse (11,12). Therefore, recognizing spontaneous pneumothorax as a possible sentinel event of Marfan syndrome is clinically meaningful. Early diagnosis allows appropriate cardiovascular surveillance and multidisciplinary management. In addition, because Marfan syndrome is typically inherited in an autosomal dominant manner, the patient's diagnosis may provide an important opportunity for family screening and early detection of at-risk relatives.

Marfan syndrome is well known to be associated with pectus excavatum and scoliosis, and patients with Marfan syndrome may present with more severe pectus deformity than non-syndromic patients (13). These anatomical features are clinically relevant when planning minimally invasive thoracic surgery, including pneumothorax. In patients with pectus excavatum or scoliosis, the deformed thoracic cavity can narrow the operative field and distort the usual anatomical orientation (14). As a result, standard video-assisted thoracic surgery (VATS) or robot-assisted thoracic surgery (RATS) port placement may not provide optimal visualization or instrument triangulation (14,15). Although apical bullae may be relatively accessible because the lung apex generally provides a favorable working distance from the thoracoscopic camera and instruments, lesions in the superior segment of the lower lobe, particularly at the S6 apex, may pose greater technical difficulty owing to less favorable instrument angles and visualization. Such lesions are deeper and require a more complex posterior-caudal working angle; therefore, the mobility of forceps or robotic arms may be more easily limited by the narrowed thoracic cavity. Preoperative individualized port planning should be considered in these cases.

However, some diagnostic issues should be considered in the present case. According to the revised Ghent nosology, the diagnosis of Marfan syndrome relies on specific features such as aortic root dilatation or dissection, ectopia lentis, pathogenic FBN1 variants, and systemic scoring (13). In the present case, the diagnosis was established based on bilateral spontaneous pneumothorax, myopia, joint hyperlaxity, and cardiovascular findings, including a bicuspid aortic valve with moderate aortic regurgitation. However, key diagnostic elements of the revised Ghent criteria, including aortic root dilatation, ectopia lentis, confirmatory FBN1 genetic testing, and family history, were not reported. Although the clinical phenotype may be suggestive of Marfan syndrome, these findings may not be sufficient to exclude related heritable thoracic aortic diseases or overlapping connective tissue disorders, such as Loeys-Dietz syndrome, particularly in the absence of highly specific ocular findings such as ectopia lentis (13). Therefore, while the clinical suspicion of Marfan syndrome is understandable, genetic evaluation would have strengthened the diagnostic certainty in this case. Genetic testing is particularly important when the clinical features are incomplete or atypical, because accurate molecular diagnosis can influence cardiovascular surveillance strategies, counseling, and family screening. For that reason, the European Association for Cardio-Thoracic Surgery (EACTS)/Society of Thoracic Surgeons (STS) guidelines recommend genetic testing for this patient population to tailor individual therapy in a specialized center as part of a multidisciplinary approach (16).

Thus, the present case is valuable in both the potential role of pneumothorax as an initial manifestation of an underlying connective tissue disorder and the importance of careful diagnostic confirmation when Marfan syndrome is suspected.

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