Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

Am J Med Genet. 1994 Aug 15;52(2):164-9. doi: 10.1002/ajmg.1320520208.


The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former "Laurence-Moon-Biedl-Bardet" syndrome. However, since the establishment of the Bardet-Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet-Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow-up of patients with Bardet-Biedl syndrome.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathy, Dilated / diagnostic imaging
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / pathology
  • Child
  • Child, Preschool
  • Consanguinity
  • Echocardiography*
  • Ethnicity / genetics
  • Female
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Heart Septum / pathology
  • Humans
  • Hypertrophy
  • Infant
  • Israel
  • Kidney / abnormalities
  • Kidney / diagnostic imaging
  • Laurence-Moon Syndrome / genetics
  • Laurence-Moon Syndrome / pathology*
  • Male
  • Pedigree
  • Sex Distribution