Abstract
Aims: We investigated the prevalence, type, and course of congenital cardiac defects and systemic hypertension in our patients with Williams-Beuren-Beuren syndrome. Methods and 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. Conclusion: 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.
| Original language | English |
|---|---|
| Pages (from-to) | 563-567 |
| Number of pages | 5 |
| Journal | Cardiology in the Young |
| Volume | 19 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Oct 2009 |
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Keywords
- Congenital heart disease
- Hypertension
- Pulmonary stenosis
- Supravalvar aortic stenosis
- Ventricular septal defect
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
- Pediatrics, Perinatology, and Child Health
Cite this
New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. / Del Pasqua, Alessia; Rinelli, Gabriele; Toscano, Alessandra; Iacobelli, Roberta; Digilio, Cristina; Marino, Bruno; Saffirio, Claudia; Mondillo, Sergio; Pasquini, Luciano; Sanders, Stephen Pruett; De Zorzi, Andrea.
In: Cardiology in the Young, Vol. 19, No. 6, 10.2009, p. 563-567.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome
AU - Del Pasqua, Alessia
AU - Rinelli, Gabriele
AU - Toscano, Alessandra
AU - Iacobelli, Roberta
AU - Digilio, Cristina
AU - Marino, Bruno
AU - Saffirio, Claudia
AU - Mondillo, Sergio
AU - Pasquini, Luciano
AU - Sanders, Stephen Pruett
AU - De Zorzi, Andrea
PY - 2009/10
Y1 - 2009/10
N2 - Aims: We investigated the prevalence, type, and course of congenital cardiac defects and systemic hypertension in our patients with Williams-Beuren-Beuren syndrome. Methods and 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. Conclusion: 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.
AB - Aims: We investigated the prevalence, type, and course of congenital cardiac defects and systemic hypertension in our patients with Williams-Beuren-Beuren syndrome. Methods and 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. Conclusion: 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.
KW - Congenital heart disease
KW - Hypertension
KW - Pulmonary stenosis
KW - Supravalvar aortic stenosis
KW - Ventricular septal defect
UR - http://www.scopus.com/inward/record.url?scp=76349112682&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=76349112682&partnerID=8YFLogxK
U2 - 10.1017/S1047951109990837
DO - 10.1017/S1047951109990837
M3 - Article
C2 - 19941695
AN - SCOPUS:76349112682
VL - 19
SP - 563
EP - 567
JO - Cardiology in the Young
JF - Cardiology in the Young
SN - 1047-9511
IS - 6
ER -