ARTICLES WHICH MENTION HEART ANOMALIES
1) Kabuki make-up syndrome* (Niikawa-Kuroki syndrome) associated with congenital heart disease - Journal of Medical Genetics 22 pp.126-127 1985 Author: Ohdo S, et al.
- ventricular septal defect
2) Kabuki Make-Up (Niikawa-Kuroki) Syndrome: A Study of 62 Patients - American Journal of Medical Genetics 31 pp.565-589 1988 Author: Niikawa N, et al.
- 19 out of 59 patients had: single ventricle with common atrium, ventricular septal defects, atrial septal defect, tetralogy of Fallot, coarctation of aorta, patent ductus arteriosus, aneurysm of aorta, transposition of great vessels, right bundle branch block, and 'parachute' mitral valve
3) Kabuki Make-up Syndrome Associated with Congenital Heart Disease - Acta Paediatrica Sinica 35 pp.63-69 1993 Author: Wang LC, et al.
- case 1 had mild mitral and tricuspid regurgitation
- case 2 had patent ductus arteriosus and ventricular septal defect
4) Kabuki Syndrome: Underdiagnosed Recognizable Pattern in Cleft Palate Patients - Cleft Palate Craniofacial Journal 32 pp.77-84 1994 Author: Burke LW, et al.
- case 4 had asymptomatic ventricular septal defect
- case 8 had coarctation of aorta, sub valvular and valvular aortic stenosis, mitral valve stenosis and ventricular septal defect
5) Kabuki Make-Up (Niikawa-Kuroki) Syndrome in Five Spanish Children - American Journal of Medical Genetics 59 pp.276-282 1995 Author: Galan-Gomez E, et al.
- case 1 had pulmonic valvular stenosis, peripheric pulmonary stenosis, and aortic supra valvular stenosis
- case 3 had coarctation of aorta
- case 4 had ventricular septal defect
- case 5 had atrial septal defect
6) Kabuki Make-Up (Niikawa-Kuroki) Syndrome in the Byelorussian Register of Congenital Malformations: Ten New Observations - American Journal of Medical Genetics 56 pp.127-131 1995 Author: Ilyina H, et al.
- case 8 had coarctation of aorta
7) Large congenital follicular ovarian cyst in a girl with Kabuki syndrome - American Journal of Medical Genetics 65(1) pp.90-91 1996 Author: Devriendt K, et al.
- atrio-ventricular septal defect with pulmonary valve stenosis
8) Inheritance in Kabuki Make-Up (Niikawa-Kuroki) Syndrome - American Journal of Medical Genetics 61 pp.92-93 1996 Author: Kobayashi O, et al.
- ventricular septal defect
9) Kabuki make-up syndrome associated with West syndrome - Acta Paediatrica Japonica 39 pp.392-394 1997 Author: Mitsudome A, et al.
-atrial septal defect
10) Dominant inheritance of Kabuki make-up syndrome - American Journal of Medical Genetics 73(1) pp.19-23 1997 Author: Tsukahara M, et al
- case 1 had post ductal coarctation of aorta, atrial septal defect and mitral stenosis
- case 2 had multiple cardiac anomalies
11) Severe Congenital Anomalies Requiring Transplantation in Children with Kabuki Syndrome" - American Journal of Medical Genetics 80(4) pp.362-367 1998 Author: Ewart-Toland A, et al.
- case 2 had atrial septal defect and pulmonic stenosis
12) Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management - American Journal of Medical Genetics 79 pp. 112-120 1998 Author: Wilson, G. N.
- case 4 had patent ductus arteriosus and ventricular septal defect
- case 5 had enlarged right atrium and ventricle
- case 6 had atrial and ventricular septal defects
- case 9 had congestive heart failure and cardiac septal defects
- case 12 had mitral valve stenosis, ventricular and septal defects, coarctation of aorta with subaortic stenosis and patent ductus arteriosus
- case 13 had Ebstein anomaly and a bicuspid aortic valve
13) Phenotypic spectrum and management issues in Kabuki syndrome - Journal of Pediatrics 134(4) pp. 480-5 1999 Author: Kawame H, et al.
- coarctation of aorta, ventricular septal defect, atrial septal defect, and valvular pulmonic stenosis
14) Niikawa-Kuroki syndrome - Minerva Pediatr. Jul-Aug;51(7-8) pp. 271-8 1999 Author: Roccella M.
- case 2 had aortic coarctation and mitral stenosis
15) Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency - Minerva Pediatr Jan-Feb;52(1-2) pp. 47-53 2000 Author: : Gabrielli O, Carloni L, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A
- case 1 had intraventricular defect
16) Unexpected life-threatening complications in kabuki syndrome - American Journal of Medical Genetics Sep 11;94(2) pp. 170-3 2000 Author: van Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ
- case 2 had juxtaductal coarctation of aorta
INFO ON THE WEBhttp://www.drhull.com/EncyMaster/A/aortic_stenosis.html http://www.heartpoint.com/congheartdx.html