Complete bilateral spontaneous pneumothorax at moderate altitude revealing Marfan syndrome: a case report

Introduction

Primary spontaneous pneumothorax (PSP) is a common condition in adolescents and young adults, particularly in tall and slender males, and is typically unilateral (1,2). In contrast, simultaneous bilateral spontaneous pneumothorax is rare, accounting for approximately 1–2% of spontaneous pneumothorax cases, and represents a potentially life-threatening situation due to acute respiratory compromise (3-5).

The pathophysiology of PSP is most commonly attributed to the rupture of subpleural blebs or bullae, although the precise mechanisms remain incompletely understood (1). Several precipitating factors have been proposed, including physical exertion, Valsalva maneuvers, and environmental influences such as fluctuations in atmospheric pressure (6,7).

Connective tissue disorders are well-recognized predisposing conditions for spontaneous pneumothorax. Among these, Marfan syndrome is associated with pleural fragility and apical bleb formation, predisposing affected individuals to recurrent pneumothorax (8-11). The reported prevalence of pneumothorax in patients with Marfan syndrome ranges from 4% to 11% (9-12). However, pneumothorax is only rarely the initial clinical manifestation leading to the diagnosis of Marfan syndrome, particularly in adolescents without previously recognized phenotypic features (13,14).

We report a rare case of complete bilateral spontaneous pneumothorax in a 17-year-old male during recreational skiing at moderate altitude, which ultimately led to the diagnosis of Marfan syndrome. We present this article in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2026-0037/rc).

Case presentation

A 17-year-old male with no significant past medical history presented with sudden onset of severe dyspnea and bilateral pleuritic chest pain while skiing at an altitude of approximately 2,200 meters above sea level. He denied trauma, smoking, illicit drug use, or prior respiratory symptoms. There was no known family history of pneumothorax or connective tissue disorders.

Due to acute respiratory distress, mountain rescue services performed emergency bilateral needle decompression on site, resulting in partial clinical improvement. The patient was subsequently transferred to the emergency department (Sion Hospital). On admission, the patient was tachypneic with a respiratory rate of 30 breaths per minute, oxygen saturation of 95% under 15 L/min of supplemental oxygen via face mask, and a heart rate of 114 beats per minute, while remaining hemodynamically stable. Physical examination revealed markedly diminished breath sounds bilaterally. Chest radiography demonstrated a complete bilateral pneumothorax without evidence of mediastinal shift (Figure 1A). Emergent bilateral chest tube placement was performed. Computed tomography of the chest confirmed bilateral pneumothorax with apical subpleural blebs, without evidence of diffuse parenchymal lung disease (Figure 1B).

Figure 1 Chest imaging at presentation. (A) Chest radiograph showing a complete bilateral pneumothorax. (B) Chest computed tomography demonstrating bilateral apical subpleural blebs (arrows).

The patient subsequently underwent staged bilateral video-assisted thoracoscopic surgery (VATS), performed in two separate procedures at a 2-month interval. Each procedure was conducted under general anaesthesia. Thoracic epidural analgesia was used during the first intervention, with a hospital stay of three days, whereas intercostal nerve blocks were used during the second procedure, with a hospital stay of two days. Surgical management included apical wedge resection of the identified apical bullae using endoscopic stapling devices, combined with mechanical pleurodesis. Postoperative recovery was uncomplicated, with complete lung re-expansion on postoperative imaging.

Suspicion of an underlying connective tissue disorder arose after initial surgical management, prompting multidisciplinary evaluation including cardiology and genetics. Alpha-1 antitrypsin levels were normal. Transthoracic echocardiography revealed a bicuspid aortic valve associated with moderate aortic regurgitation (grade 2/4). Based on the combination of pulmonary findings, cardiovascular abnormalities, and clinical features including bilateral spontaneous pneumothorax, myopia, and joint hyperlaxity, the diagnosis of Marfan syndrome was established. Genetic testing for FBN1 mutation was not performed. The diagnosis was made in accordance with the revised Ghent criteria (15).

No recurrence of pneumothorax was observed during 12 months of follow-up. All procedures performed in this study were in accordance with the ethical standards of the institutional research committee and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient’s parents or legal guardians for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

Simultaneous bilateral spontaneous pneumothorax is an uncommon but potentially life-threatening condition, particularly in young patients without known underlying lung disease (3-5). Its rarity may contribute to delayed recognition and management, increasing the risk of severe respiratory compromise. The present case is notable for the completeness of the bilateral pneumothorax, its occurrence during exposure to moderate altitude, and the subsequent diagnosis of Marfan syndrome.

Environmental factors, including meteorological and barometric pressure changes, have been implicated as potential triggers of spontaneous pneumothorax. Retrospective studies have demonstrated statistical associations between decreases in atmospheric pressure and the onset of spontaneous pneumothorax, suggesting a triggering effect in susceptible individuals (6). Other studies have examined seasonal variation, ambient temperature, and wind speed, with inconsistent results (16,17). Although direct evidence linking moderate altitude exposure without abrupt pressure changes to pneumothorax is limited, a few case reports have described similar occurrences outside extreme altitude conditions (18), without establishing a causal relationship. Even modest reductions in ambient pressure may increase transpulmonary pressure gradients. In individuals with structurally fragile lung tissue, such as those with connective tissue disorders, this mechanism remains biologically plausible. However, available evidence remains heterogeneous, and the specific role of moderate altitude exposure without rapid decompression remains uncertain.

Marfan syndrome is an autosomal dominant connective tissue disorder caused by pathogenic variants in the FBN1 gene encoding fibrillin-1, a key structural component of elastic connective tissue and an important modulator of transforming growth factor-β (TGF-β) signalling pathways (9,12). While the cardinal manifestations classically involve the cardiovascular, ocular, and skeletal systems (15), pulmonary involvement is increasingly recognized but remains underappreciated, including cystic lung changes, emphysema, and spontaneous pneumothorax (9,12).

Spontaneous pneumothorax occurs in an estimated 4–11% of patients with Marfan syndrome, making it one of the more frequently described pulmonary complications, although it remains far less common than the major systemic features (9-12).

The pathogenesis likely reflects several overlapping mechanisms: intrinsic connective tissue weakness leading to decreased elastic recoil and abnormal stress distribution within the lung parenchyma; formation of apical blebs and bullae due to altered extracellular matrix integrity; and thoracic skeletal abnormalities that may modify chest wall dynamics and lung expansion forces (9,12).

Importantly, spontaneous pneumothorax may represent a sentinel event in Marfan syndrome, preceding overt cardiovascular or skeletal manifestations. This has been described in other case series and is illustrated by the present case, underscoring that a pulmonary event may be the initial presentation of this systemic disorder (13,14). Such presentations are particularly relevant in adolescents or young adults, in whom early diagnosis enables timely surveillance for potentially life-threatening cardiovascular complications, including progressive aortic dilatation and dissection.

From a management perspective, the increased risk of recurrence associated with Marfan-related pneumothorax supports an early definitive treatment strategy. Historical series have demonstrated high recurrence rates following conservative management alone, whereas surgical intervention with bullectomy and pleurodesis significantly reduces recurrence (11,19). In this context, the decision for early surgical intervention was supported by the complete and bilateral nature of the pneumothorax, which carries a high risk of clinical deterioration, as well as the suspected underlying connective tissue disorder associated with an increased risk of recurrence. This approach is consistent with current literature supporting early definitive management in high-risk patients (3-5,20). Alternative strategies such as pleural covering techniques have also been proposed in high-risk populations, although evidence remains limited.

Conclusions

This case reinforces the association between Marfan syndrome and spontaneous pneumothorax and highlights the importance of maintaining a high index of suspicion when managing severe, bilateral, or atypical pneumothorax in young patients. Recognition of pneumothorax as a potential initial manifestation of Marfan syndrome supports early multidisciplinary evaluation, including cardiology, genetics, and thoracic surgery, to optimize both acute management and long-term surveillance for systemic complications.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-2026-0037/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-2026-0037/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-2026-0037/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional research committee and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient’s parents or legal guardians for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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