Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort
Journal
Acta Paediatrica, International Journal of Paediatrics
Journal Volume
96
Journal Issue
6
Pages
906-909
Date Issued
2007
Abstract
Aims: To define the cardiovascular anomalies and the long-term outcomes in an Asian cohort with Williams-Beuren syndrome (WBS). Methods: Data were retrieved from a retrospective chart review of patients who had a definitive diagnosis of WBS by fluorescence in situ hybridization between 1995 and 2005. All patients underwent echocardiography every 3-9 months. Ten patients underwent cardiac catheterization. Results: Twenty-one patients with a total follow-up of 134 patient-years (median: 72 months) were enrolled. Characteristic dysmorphic facial features were noted in 19 patients (n = 19, 90%). All except one had associated cardiac anomalies, accounting for 0.3% (20/6640) of the patients with congenital heart disease. The spectrum of cardiac anomalies included supravalvular aortic stenosis (SVAS) (n = 15, 71%), peripheral pulmonary stenosis (PPS) (n = 12, 57%), pulmonary valve stenosis (PS) (n = 10, 47%), mitral valve prolapse (MVP) (n = 9, 43%), coarcation of the aorta (n = 4, 19%), ventricular septal defect (n = 2, 10%) and atrial septal defect (n = 1, 5%). Concurrent SVAS and PS/PPS were found in 14 (70%) patients. Only one patient required balloon dilation of PS, which improved. Regression of the stenoses occurred with a probability of 31, 90 and 71% at the age of 10 years for SAVS, PS and PPS, respectively. Conclusions: Among our WBS patients, SVAS, PPS and PS were common, and were associated with probability of spontaneous regression, especially of right-sided lesions. ? 2007 The Author(s).
SDGs
Other Subjects
aorta coarctation; aorta stenosis; aorta supravalvular stenosis; article; Asian; balloon dilatation; child; clinical article; cohort analysis; congenital heart disease; controlled study; Doppler echocardiography; face dysmorphia; female; fluorescence in situ hybridization; follow up; heart atrium septum defect; heart catheterization; heart ventricle septum defect; human; infant; information retrieval; long term care; male; medical record review; mitral valve prolapse; outcome assessment; priority journal; probability; pulmonary valve stenosis; remission; Williams Beuren syndrome; Age Factors; Aortic Valve Stenosis; Asian Continental Ancestry Group; Child; Child, Preschool; Disease Progression; Female; Humans; Infant; Male; Pulmonary Valve Stenosis; Retrospective Studies; Williams Syndrome
Type
journal article