title: Bardet-Biedl syndrome and subaortic membrane: co-occurrence of two rare conditions.
abstract: Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with multiple morphological abnormalities. Clinical diagnosis is based on the presence of central obesity, polydactyly, rod-cone dystrophy, varying degrees of learning disability, hypogonadism (in men) and renal abnormalities. Cardiac involvement is a rare condition. We present a 28-year-old male with complaints of progressive dyspnea and palpitation diagnosed as BBS and subaortic discrete membrane. Careful echocardiographic evaluation of patients with BBS, such as in this case report, may allow us to discover novel cardiac abnormalities in this patient population.
authors.affiliation: Department of Cardiology, Adana Numune Education and Research Hospital, Adana, Turkey.
authors.forename: Osman Ziya
authors.initials: OZ
authors.lastname: Arık
authors.forename: Kamuran
authors.initials: K
authors.lastname: Tekin
authors.forename: Caner
authors.initials: C
authors.lastname: Türkoğlu
authors.forename: Murat
authors.initials: M
authors.lastname: Çaylı
mesh_terms: D000015:Abnormalities, Multiple; D020788:Bardet-Biedl Syndrome; D006801:Humans; D007674:Kidney Diseases