Delayed identification of Bardet-Biedl syndrome

Abstract

Bardet-Biedl syndrome is a central obesity syndrome with a hereditary link affecting non-motile cilia that can be diagnosed clinically. Central obesity and polydactyly are important phenotypic features of this syndrome. Most cases are identified in early childhood. The report discusses the retrospective diagnosis of Bardet-Biedl syndrome in a heart failure patient. On examination, the patient revealed central obesity, polydactyly, retinitis pigmentosa and an atrial septal defect. The involvement of multiple systems with phenotypic traits resulted in a syndromic association. The woman was treated conservatively for her symptoms with diuretics. Past hospital visits by the patient overlooked the diagnosis of Bardet-Biedl syndrome. This syndrome is diagnosed using the criteria established by Beales and colleagues. Although specific management strategies for treating the syndrome have yet to be proposed, diagnosis aids in genetic counselling for affected couples, metabolic syndrome management, blindness rehabilitation and early detection of organ damage, allowing for adequate follow-up.

Keywords: General practice / family medicine; Heart failure; Obesity (nutrition); Retina.