CARDIAC ABNORMALITIES IN THE BARDET-BIEDL-SYNDROME - ECHOCARDIOGRAPHIC STUDIES OF 22 PATIENTS

The Bardet-Biedl syndrome is an autosomal recessive disorder of polyda ctyly, obesity, tapetoretinal degeneration, mental retardation, hypoge nitalism, and renal involvement. A high incidence of congenital and ac quired heart disease was reported in the former ''Laurence-Moon-Biedl- Bardet'' syndrome. However, since the establishment of the Bardet-Bied l syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic s tudies on 22 patients with the Bardet-Biedl syndrome from three extend ed, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interven tricular septum and dilated cardiomyopathy. Our findings of cardiac in volvement in 50% of the cases suggest that echocardiographic examinati on should be included in the clinical evaluation and follow-up of pati ents with Bardet-Biedl syndrome. (C) 1994 Wiley-Liss, Inc.