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%.     

Coarctation of the aorta in thoraco-abdominal region

Summary Coarctation of the aorta in the thoraco-abdominal region in an eight-year-old child is reported along with a brief review of the literature. From the Department of Pediatrics, King George’s Medical College, Lucknow.     

Coarctation of the aorta in the syndrome of absent pulmonary valve with ventricular septal defect

Summary The case of a male child is reported in which the syndrome of absent pulmonary valve and ventricular septal defect was associated with anomalous drainage of the right superior pulmonary vein into the superior vena cava, atrial septal defect, a right aortic arch, and an aortic isthmic coarctation. The combination of aortic coarctation with a high degree of right-ventricular outflow obstruction has not been reported so far in the literature. This case shows that there is no proof of aplasia of the ductus arteriosus in the syndrome of absent pulmonary valve and ventricular septal defect. Most likely, there is an early involution of the ductus arteriosus; persistence of the ductus arteriosus would not be compatible with fetal survival.     

主动脉缩窄的治疗

通过总结分析主动脉缩窄（CoA）的治疗情况,对其治疗方式及治疗时机的选择做出提示。将CoA分为7种类型进行分析,治疗方式从外科手术、介入治疗及镶嵌治疗3个方面进行比较。外科手术治疗作为传统的治疗方式,在复杂CoA治疗中仍占有重要地位;随着介入治疗的开展,经皮球囊扩张血管成形术（PTA）与血管内支架（ES）置入术在某些CoA治疗中已取得良好效果;为使相应CoA得到更好治疗,镶嵌治疗已渐成为趋势;手术时机因类型而异,对严重的CoA目前倾向于婴儿期治疗。CoA的治疗应权衡选择最合适的治疗方式及时机,以达到最佳治疗效果。     

Kabuki make-up syndrome

The authors present an original case, the first in Brazil and Latin America, of the Kabuki make-up syndrome. To diagnose KMS, the authors point out the importance of the "Pentad of Niikawa", a term created by them to indicate the five basic features of the syndrome. Also new symptoms and signs which might be part of the phenotype of KMS are described. The authors emphasize that studies concerning KMS be widely spread, in order to identify new cases.     

Kabuki make-up syndrome

Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies. This condition is believed to be common in Japan, but has been reported from other parts of the world. The authors report a case of this syndrome in an eight-year-old girl, with the characteristic findings from India.