Coarctation of the aorta in Kabuki syndrome.

Abstract

The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 300/0. 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 juxtaductal coarctation occurs with a frequency of 25%.

Congenital heart defects in Kabuki syndrome

“…Totally 76 cases of KS were reported to be associated with congenital heart defects by 19 reports [6,7,[9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25]. Of them, the gender was expressed in 37 patients including 17 males and 20 females with a male-to-female ratio of 0.85:1.…”

A Rare Case: Kabuki Make-Up Syndrome

“…Kardinal belirtiler kadar sık olmayan diğer anomaliler ise eklem gevşekliği, rekürren otitis media, kardiyovasküler anomaliler, renal ve/veya ürogeni-tal anomaliler, biliyer atrezi, diyafragma hernisi, anorektal anomaliler, konjenital hipotiroidi, idiyopatik trombositopenik purpura, otoimmun hemolitik anemi, puberte prekoks, hipogamaglobulinemi, diş ve tırnak anomalileri, tip 1 diyabetes mellitus, epilepsi ve ana hava yollarında obstrüksiyon olarak belirtilmektedir [4][5][6][7][8] . Bazı vakalarda ektodermal anormallikler saptanmış olup, saçın mikroskobik incelemesinde trikoreksis nodosa tespit edilmiştir [9] .…”

Kabuki-Make-Up Syndrome with Multiple Congenital Heart Defects

“…2 While the incidence of cardiovascular anomalies in non Japanese population has been reported from 58-83%. 12,13.14 Hughes et al ( 1994), in their study of 20 patients with Kabuki syndrome had an estimated incidence of cardiovascular anomalies of 30% in which 25% had more than one documented cardiac malformation which, in all cases, included an aortic coarctation. 10 Although more than about 100 cases of cardiac defects in Kabuki syndrome have been described, combined defects have rarely been described.…”