Related Experiment Video

Updated: Sep 10, 2025

Unilateral Lung Volume Analysis Using Micro-CT for Enhanced Assessment of Pulmonary Fibrosis in Preclinical Models
03:38

Unilateral Lung Volume Analysis Using Micro-CT for Enhanced Assessment of Pulmonary Fibrosis in Preclinical Models

Published on: June 20, 2025

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Undiagnosed Marfan's Syndrome Presenting with Primary Spontaneous Pneumothorax in a Young, Short, Nonsmoker Adult at

Harman Singh1, Ankur Verma2, Sanjay Jaiswal3

  • 1Emergency Medical Officer, Department of Emergency Medicine, Max Super Speciality Hospital, Delhi, India, Corresponding Author, Orcid: https://orcid.org/0009-0005-4630-0695.

The Journal of the Association of Physicians of India
|August 21, 2025
PubMed

Insights

Marfan syndrome, a connective tissue disorder, can manifest as primary spontaneous pneumothorax in the emergency department. Early recognition by ED physicians is crucial for timely diagnosis and management of this rare presentation.

Area of Science:

  • Medical Genetics
  • Cardiology
  • Pulmonology

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue.
  • Common complications include aortic dissection and mitral valve prolapse.
  • Primary spontaneous pneumothorax (PSP) is a less common but significant presentation.

Purpose of the Study:

  • To highlight the importance of considering Marfan syndrome in patients presenting with PSP.
  • To emphasize the role of emergency department physicians in early identification.

Main Methods:

  • Case report of a 22-year-old male with chest pain.
  • Diagnosis of spontaneous pneumothorax.
  • Clinical suspicion and examination suggestive of Marfan syndrome.

Main Results:

  • The patient was diagnosed with spontaneous pneumothorax.
  • Further examination indicated Marfan syndrome.
  • Intercostal tube placement was performed for treatment.

Conclusions:

  • ED physicians should suspect Marfan syndrome in patients with PSP.
  • Prompt examination and patient education are vital.
  • Referral for genetic testing is recommended for confirmatory diagnosis.

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