Coarctation of the aorta in Kabuki syndrome.
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%.
Hughes
H E
HE
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.
Davies
S J
SJ
D000293:Adolescent; D001017:Aortic Coarctation / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome