Arch Dis Child 70:512-514 doi:10.1136/adc.70.6.512
  • Research Article

Coarctation of the aorta in Kabuki syndrome.

  1. H E Hughes,
  2. S J Davies
  1. Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.


      The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxta-ductal coarctation occurs with a frequency of 25%.