Kabuki Syndrome
Kabuki Syndrome
a post_it by s.gerboni
Kabuki syndrome, also known as Kabuki makeup syndrome and Niikawa-Kuroki syndrome, was initially described in 1988 by Niikawa et al. Congenital heart disease is commonly associated with Kabuki syndrome, with a reported incidence of 31–58% in large series
Most patients with Kabuki syndrome have five cardinal features:
- distinct facial features,
- postnatal growth retardation,
- developmental delay or mental retardation,
- skeletal abnormalities,
- and dermatoglyphic abnormalities.
The diagnosis is determined clinically because the chromosomes are normal
and no clinical test exists to confirm the clinical diagnosis of Kabuki syndrome.
The association of cardiac defects with Kabuki syndrome has been well described. The majority of these
defects are isolated shunt lesions, conotruncal abnormalities, or various forms of arch obstruction.
The spectrum of associated cardiac defects is varied.
The finding of left-sided obstructive lesions, specifically coarctation of the aorta, is reported in up to 29% of cases and in my serie three patients have a Shone Sindrome. Only two cases of associated congenital heart disease with single-ventricle physiology have been reported.
Recently were reported a case series of three patients with Kabuki syndrome and single-ventricle physiology, specifically hypoplastic left heart syndrome (HLHS), from a single institution This complete and illustrates the full spectrum of left-sided obstructive lesions and expands the phenotype of cardiac defects associated with Kabuki syndrome.
