Bardet-Biedl syndrome a rare cause of cardiomyopathy.
Bardet Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, obesity, learning disabilities, hypogonadism and renal anomalies. Cardiomyopathy in association with BBS has previously being reported only twice in literature. We report a case of a patient presenting with features of cardiomyopathy, who was subsequently diagnosed to have BBS.
Division of Pediatric Cardiology, Department of Neonatology and Pediatric Medicine, PGIMER, Dr. RML Hospital, New Delhi, India. dineshkumar169@yahoo.co.in
Dinesh Kumar
DK
Yadav
Mukesh Kumar
MK
Beniwal
Aditi
A
Jain
D000293:Adolescent; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis*; D009202:Cardiomyopathies / Q000175:diagnosis*; D006801:Humans; D008297:Male