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New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome

Published online by Cambridge University Press:  23 September 2009

Alessia Del Pasqua ,
Gabriele Rinelli ,
Alessandra Toscano ,
Roberta Iacobelli ,
Cristina Digilio ,
Bruno Marino ,
Claudia Saffirio ,
Sergio Mondillo ,
Luciano Pasquini  and
Stephen Pruett Sanders
...Show all authors
Alessia Del Pasqua
Affiliation:
Dipartimento di Cardiologia, Università degli Studi di Siena, Siena, Italy
Gabriele Rinelli
Affiliation:
Dipartimento Medico Chirurgico di Cardiologia Pediatrica, Ospedale Pediatrico Bambino Gesù, Rome, Italy
Alessandra Toscano
Affiliation:
Dipartimento Medico Chirurgico di Cardiologia Pediatrica, Ospedale Pediatrico Bambino Gesù, Rome, Italy
Roberta Iacobelli
Affiliation:
Dipartimento Medico Chirurgico di Cardiologia Pediatrica, Ospedale Pediatrico Bambino Gesù, Rome, Italy
Cristina Digilio
Affiliation:
Servizio di Genetica Medica, Ospedale Pediatrico Bambino Gesù, Rome, Italy
Bruno Marino
Affiliation:
Dipartimento di Pediatria, Università La Sapienza, Rome, Italy
Claudia Saffirio
Affiliation:
Dipartimento di Pediatria, Università La Sapienza, Rome, Italy
Sergio Mondillo
Affiliation:
Dipartimento di Cardiologia, Università degli Studi di Siena, Siena, Italy
Luciano Pasquini
Affiliation:
Dipartimento Medico Chirurgico di Cardiologia Pediatrica, Ospedale Pediatrico Bambino Gesù, Rome, Italy
Stephen Pruett Sanders
Affiliation:
Dipartimento Medico Chirurgico di Cardiologia Pediatrica, Ospedale Pediatrico Bambino Gesù, Rome, Italy
Andrea de Zorzi*
Affiliation:
Dipartimento Medico Chirurgico di Cardiologia Pediatrica, Ospedale Pediatrico Bambino Gesù, Rome, Italy
*
Correspondence to: Dr Andrea de Zorzi, Ospedale Pediatrico Bambino Gesù, DMCCP Cardiologia, Piazza Sant’Onofrio 1, 00165 Rome, Italy. Tel: +390668592333; Fax: +390668592257; E-mail: dez@fastwebnet.it
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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.

Keywords

Congenital heart diseasesupravalvar aortic stenosishypertensionventricular septal defectpulmonary stenosis
Type
Original Articles
Information
Cardiology in the Young , Volume 19 , Issue 6 , December 2009 , pp. 563 - 567
Copyright
Copyright © Cambridge University Press 2009

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