Bilateral Pneumothorax Associated with Marfan Syndrome: A Case Report | Chapter 6 | Recent Updates in Disease and Health Research Vol. 5

 The present study reports a case of spontaneous bilateral pneumothorax as an initial diagnosis of Marfan syndrome. The most prevalent type of syndromic heritable thoracic aortic aneurysm illness, Marfan syndrome is a hereditary autosomal dominant multisystem connective tissue ailment that mostly affects the skeletal, cardiovascular, and ophthalmic systems with less frequent involvement of the pulmonary system.

 

Here, we report a case of a 17-year-old male patient who presented with sudden onset shortness of breath over the last 12 hours. The patient was tall, thin built with long slender fingers. There were absent breath sounds over both sides of his chest with resonant notes on percussion. Chest X-ray confirmed the presence of bilateral pneumothorax consistent with the clinical finding. ICD (Intercostal Chest Drain) insertion was done. Marfan syndrome was diagnosed. Computed tomography angiogram revealed focal ectasia at the distal arch of the aorta just proximal to the descending aorta measuring 3 cm in diameter without any aortic regurgitation on transthoracic echocardiography. This case suggests that spontaneous pneumothorax could be a pointer towards as well as an initial presentation of inherited connective tissue disorder like MARFAN syndrome. Whenever any patient with Marfan’s syndrome, presented with acute chest pain, with or without dyspnoea, Pneumothorax along with aortic dissection should be considered immediately.

Author(s) Details:

Mir Wasim Ali,
Department of Internal Medicine, IPGMER & SSKM Hospital, Kolkata - 700020, India.

Soumadip Rakshit,
Department of Internal Medicine, IPGMER & SSKM Hospital, Kolkata - 700020, India.

Abu Saiyed Ansary,
Department of Chest Medicine, IPGMER & SSKM Hospital, Kolkata - 700020, India.

Md. Karimulla Mondal,
Department of Internal Medicine, IPGMER & SSKM Hospital, Kolkata - 700020, India.

Anup Kumar Datta,
Department of Internal Medicine, IPGMER & SSKM Hospital, Kolkata - 700020, India.

Sumit Kumar Ghosh,
Department of Internal Medicine, IPGMER & SSKM Hospital, Kolkata - 700020, India.

Ananta Kumar Datta,
Department of Internal Medicine, IPGMER & SSKM Hospital, Kolkata - 700020, India.

Please see the link here: https://stm.bookpi.org/RUDHR-V5/article/view/14031