Heart World Conference 2026

Abstract

Introduction:

Birt-Hogg-Dube Syndrome is a rare, autosomal dominant genetic disorder caused by mutations in the FLCN ( Folliculin ) gene located on chromosome 17p11.2 It classically presents with triad - Spontaneous and recurrent pneumothorax, Diffuse Pulmonary cysts Cutaneous fibrofolliculomas Renal neoplasms

A 24 yr old female housewife, resident of Ambajogai, presents to the ED with complaints of right sided chest pain, breathlessness, non-productive cough. On examination, PR- 120 bpm / RR- 28/min / BP- 130/70 mmhg/ SPO2- 86% on room air. Respiratory system examination revealed diminished breath sounds and hyper-resonant note on rt. side. Chest x-ray was showing rt. sided pneumothorax. Immediate chest tube was inserted. HRCT chest revealed multiple, thinwalled cysts predominantly in basal and subpleural lung zones. There was no any history of smoking, she also had family history of pneumothorax to her mother. Detailed cutaneous examination revealed multiple papules over face and back suggestive of fibrofolliculomas. Patient was advised genetic counselling, which confirmed pathognomic FLCN gene mutation, establishing the diagnosis of Birt-Hogg-Dube Syndrome.

•BHDS should be considered in differential diagnosis of spontaneous and recurrent pneumothorax, with characteristic pulmonary cysts, particularly in young or middle-aged patients without smoking history.

Conclusion:

Early identification of this syndrome facilitates appropriate management of pneumothorax, enables renal malignancy surveillance, and allows genetic counselling of patients and family members, thereby improving long-term outcomes.