Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort.
OBJECTIVE
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.
Wang
Ching-Chia
CC
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
Hwu
Wuh-Liang
WL
Wu
En-Ting
ET
Lu
Frank
F
Wang
Jou-Kou
JK
Wu
Mei-Hwan
MH
D000367:Age Factors; D001024:Aortic Valve Stenosis / Q000151:congenital* / Q000000981:diagnostic imaging / Q000208:ethnology; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000151:congenital* / Q000000981:diagnostic imaging / Q000208:ethnology; D012189:Retrospective Studies; D014463:Ultrasonography; D018980:Williams Syndrome / Q000150:complications / Q000208:ethnology*