The latest article:
The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome - Cardiol Young. 2006 Feb;16(1):30-3 Authors: McMahon CJ, Reardon W.
reports:
“[...]We found congenital cardiac lesions in five of the six patients (83%). Surgical intervention was needed in three, including an arterial switch, construction of a Blalock-Taussig shunt, and repair of aortic coarctation. All patients had uneventful post-operative courses, and were discharged home within 1 week.[...]
[...]Our experience serves further to highlight the high prevalence of congenital cardiac malformation in the setting of Kabuki Syndrome, primarily those involving the ventricular outlets, the aortic arch, and septal defects. Digilio et al. reported cardiac malformation in three-fifths of their cohort of 60 patients, with two-thirds of those with cardiac defects being male. This compared to a prevalence of four-fifths in our significantly smaller group of patients. The most common defects in the cohort collected by Digilio et al. were coarctation, with or without other left-sided obstructive lesions, atrial septal defect, and ventricular septal defect, each lesion seen in about one-fifth of the cohort. Less common cardiac defects included aortic stenosis, pulmonary stenosis, tetralogy of Fallot, double outlet right ventricle, complete transposition, and Ebstein’s malformation. [...]
[...]In conclusion, paediatric cardiologists should be alert to the possibility of Kabuki syndrome in any child with a history of developmental delay, severe feeding problems in the neonatal period disproportionate to the degree of cardiac disease, the presence of a cardiac defect, and the characteristic dysmorphic findings as described herein. Earlier detection of this syndrome may have important implications for the long-term prognosis of such children.”
- ventricular septal defect
- 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
- case 1 had mild mitral and tricuspid regurgitation
- case 2 had patent ductus arteriosus and ventricular septal defect
- 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
- 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
- case 8 had coarctation of aorta
- atrio-ventricular septal defect with pulmonary valve stenosis
- ventricular septal defect
-atrial septal defect
- case 1 had post ductal coarctation of aorta, atrial septal defect and mitral stenosis
- case 2 had multiple cardiac anomalies
- case 2 had atrial septal defect and pulmonic stenosis
- 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
- coarctation of aorta, ventricular septal defect, atrial septal defect, and valvular pulmonic stenosis
- case 2 had aortic coarctation and mitral stenosis
- case 1 had intraventricular defect
- case 2 had juxtaductal coarctation of aorta