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Cardiovascular findings, and clinical course, in patients with Williams syndrome

Published online by Cambridge University Press:  24 May 2005

Eva Bruno ,
Norma Rossi ,
Oscar Thüer ,
Roque Córdoba  and
Luis E. Alday
Eva Bruno
Affiliation:
Divisions of Cardiology and Genetics, Hospital de Niños, Córdoba, Argentina
Norma Rossi
Affiliation:
Divisions of Cardiology and Genetics, Hospital de Niños, Córdoba, Argentina
Oscar Thüer
Affiliation:
Divisions of Cardiology and Genetics, Hospital de Niños, Córdoba, Argentina
Roque Córdoba
Affiliation:
Division of Cardiovascular Surgery and Section of Paediatric Cardiology, Hospital Privado, Córdoba, Argentina
Luis E. Alday
Affiliation:
Division of Cardiovascular Surgery and Section of Paediatric Cardiology, Hospital Privado, Córdoba, Argentina
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Abstract

Aims: We investigated the incidence and outcome of cardiac malformations in 53 patients with Williams syndrome. Methods and results:The mean age, and period of follow-up, were 3.6 and 5.3 years, with standard deviations of 4.0 and 5.6 years, respectively. Of the patients, 45 (85%) had cardiovascular anomalies, often combined. Males presented earlier than females, at the ages of 2.1 years, with standard deviation of 2.8 years, as opposed to 4.5 years, with standard deviation of 4.2 years (p < 0.01). Supravalvar aortic stenosis occurred in 32 patients (71%), pulmonary arterial stenosis in 17 (38%), and mitral valvar prolapse in 12 (27%), 9 of these having regurgitant valves. Pulmonary valvar stenosis, ventricular septal defect, coarctation of the aorta, persistent patency of the arterial duct, hypertrophic cardiomyopathy, and subaortic stenosis all occurred less frequently. In 21 patients (47%), 24 surgical or catheter interventions had been made, most often for repair of supravalvar aortic stenosis, undertaken on 16 occasions with just one recurrence, and in 4 along with surgery to the mitral valve. Other lesions requiring intervention were pulmonary valvar stenosis, pulmonary arterial stenosis, coarctation of the aorta, and subaortic stenosis. We lost 3 patients (7%), with severe supravalvar aortic stenosis and moderate or severe mitral regurgitation, 2 early and one late after surgery. Conclusion: The most frequent cardiovascular anomalies in Williams syndrome were supravalvar aortic stenosis, pulmonary arterial stenosis, and mitral valvar prolapse, which occurred more frequently in our patients than previously observed. Patients with left ventricular pressure and volume overload were at greater risk.

Keywords

Supravalvar aortic stenosisWilliams syndromepulmonary arterial stenosismitral valvar prolapse
Type
Original Article
Information
Cardiology in the Young , Volume 13 , Issue 6 , December 2003 , pp. 532 - 536
Copyright
© 2003 Cambridge University Press

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