New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome

Alessia Del Pasqua, Gabriele Rinelli, Alessandra Toscano, Roberta Iacobelli, Cristina Digilio, Bruno Marino, Claudia Saffirio, Sergio Mondillo, Luciano Pasquini, Stephen Pruett Sanders, Andrea De Zorzi

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)563-567
Number of pages5
JournalCardiology in the Young
Volume19
Issue number6
DOIs
Publication statusPublished - Oct 2009

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Williams Syndrome
Supravalvular Aortic Stenosis
Ventricular Heart Septal Defects
Hypertension
Pulmonary Valve Stenosis
Aortic Coarctation
Tetralogy of Fallot
Prolapse
Mitral Valve Insufficiency
Cardiac Catheterization

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 journalArticle

Del Pasqua, A, Rinelli, G, Toscano, A, Iacobelli, R, Digilio, C, Marino, B, Saffirio, C, Mondillo, S, Pasquini, L, Sanders, SP & De Zorzi, A 2009, 'New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome', Cardiology in the Young, vol. 19, no. 6, pp. 563-567. https://doi.org/10.1017/S1047951109990837
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. / New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. In: Cardiology in the Young. 2009 ; Vol. 19, No. 6. pp. 563-567.
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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.",
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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

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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

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