Ahmed Magdy Elmezayen, Amar Nandrha, Mike Kay, May April Oo, Tariq Minhas
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Abstract
We report the case of a 72-year-old man referred to cardiothoracic services with a right-sided spontaneous pneumothorax. High-resolution computed tomography (HRCT) revealed extensive bilateral lung cysts and recurrence of the pneumothorax. Further clinical assessment led to a diagnosis of Birt-Hogg-Dubé (BHD) syndrome-a rare genetic condition marked by cystic lung disease, spontaneous pneumothoraces, skin fibrofolliculomas, and an elevated risk of renal tumors. We discuss the thoracic implications of BHD and the utility of uniportal video-assisted thoracoscopic surgery (UVATS) with pleurodesis in recurrent cases. The report underlines the importance of genetic evaluation and long-term surveillance for patients and at-risk relatives. Genetic testing for the FLCN (Folliculin) gene was initiated and results were consistent with Birt-Hogg-Dubé syndrome.
期刊介绍：
The primary aim of the Indian Journal of Thoracic and Cardiovascular Surgery is education. The journal aims to dissipate current clinical practices and developments in the area of cardiovascular and thoracic surgery. This includes information on cardiovascular epidemiology, aetiopathogenesis, clinical manifestation etc. The journal accepts manuscripts from cardiovascular anaesthesia, cardiothoracic and vascular nursing and technology development and new/innovative products.The journal is the official publication of the Indian Association of Cardiovascular and Thoracic Surgeons which has a membership of over 1000 at present.DescriptionThe journal is the official organ of the Indian Association of Cardiovascular-Thoracic Surgeons. It was started in 1982 by Dr. Solomon Victor and ws being published twice a year up to 1996. From 2000 the editorial office moved to Delhi. From 2001 the journal was extended to quarterly and subsequently four issues annually have been printed out at time and regularly without fail. The journal receives manuscripts from members and non-members and cardiovascular surgeons. The manuscripts are peer reviewed by at least two or sometimes three or four reviewers who are on the panel. The manuscript process is now completely online. Funding the journal comes partially from the organization and from revenue generated by subscription and advertisement.
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