New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome.
OBJECTIVE
We investigated the prevalence, type, and course of congenital cardiac defects and systemic hypertension in our patients with Williams-Beuren-Beuren syndrome.


RESULTS
We reviewed the clinical records of all patients with Williams-Beuren syndrome examined between 1981 and 2006. We identified 150 patients, aged from 7 months to 45 years, with a follow-up from 6 months to 25 years, the mean being 6.4 years. A cardiac anomaly was present in 113 of the 150 patients (75%). Defects were typical in over four-fifths of the group. We found supravalvar aortic stenosis in 73 of 113 patients (64.6%), isolated in 43. Pulmonary stenosis, isolated in 18 cases, was found in 51 of 113 (45.1%), while aortic coarctation and mitral valvar prolapse were each found in 7 (6.2%), 3 of the lesions is isolation. Atypical defects were found in 19 patients, tetralogy of Fallot in 2, atrial septal defects in 4, aortic and mitral valvar insufficiencies in 1 each, bicuspid aortic valves in 2, and ventricular septal defects in 9, 4 of the last being isolated. Systemic hypertension, observed in 33 patients (22%), was poorly controlled in 10. Diagnostic and/or interventional cardiac catheterization was undertaken in 24 patients, with 30 surgical procedures performed in 26 patients. Of the group, 3 patients died.


CONCLUSIONS
Cardiac defects were present in three-quarters of our patients. Pulmonary arterial lesions generally improved, while supravalvar aortic stenosis often progressed. Atypical cardiac malformations, particularly ventricular septal defects, occurred frequently. Systemic hypertension was found in one-fifth, even in the absence of structural cardiac defects. The short-term mortality was low.
Del Pasqua
Alessia
A
Dipartimento di Cardiologia, Università degli Studi di Siena, Siena, Italy.
Rinelli
Gabriele
G
Toscano
Alessandra
A
Iacobelli
Roberta
R
Digilio
Cristina
C
Marino
Bruno
B
Saffirio
Claudia
C
Mondillo
Sergio
S
Pasquini
Luciano
L
Sanders
Stephen Pruett
SP
de Zorzi
Andrea
A
D000293:Adolescent; D000328:Adult; D006328:Cardiac Catheterization; D002318:Cardiovascular Diseases / Q000453:epidemiology / Q000503:physiopathology* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012189:Retrospective Studies; D018980:Williams Syndrome / Q000453:epidemiology / Q000503:physiopathology* / Q000601:surgery