Bardet–Biedl syndrome presenting as dilated cardiomyopathy

The Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. BBS presents with varied clinical manifestations like retinitis pigmentosa, post axial polydactyly, central obesity, learning disability and menstrual irregularities (secondary amenorrhoea). Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. BBS presenting as dilated cardiomyopathy in young individuals is a rare manifestation. In one case series of 109 BBS patients reported recently, 8 cases had cardiac involvement with only two of them having cardiomyopathy.