Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients
Jesús De Rubens Figueroa1, Luz María Olivares Rodríguez, José Luis Pablos Hach
1Department of Cardiology, National Institute of Pediatrics, Mexico City, D.F. Mexico. derubens@hotmail.com
Insights
Cardiovascular anomalies are common in Williams-Beuren syndrome (WBS). This study found 80% of WBS children had congenital heart defects, most frequently supravalvular aortic stenosis.
Area of Science:
- Pediatrics
- Cardiology
- Genetics
Background:
- Williams-Beuren syndrome (WBS) is a genetic disorder associated with various medical issues.
- Cardiovascular abnormalities are a significant concern in WBS patients.
Purpose of the Study:
- To identify and evaluate cardiovascular anomalies in children diagnosed with Williams-Beuren syndrome.
- To provide clinical insights into the cardiac manifestations of WBS.
Main Methods:
- Retrospective, observational study of children diagnosed with WBS between 1980 and 2005.
- Review of patient files for cardiovascular anomalies and demographic data.
Main Results:
- 32 out of 40 (80%) children with WBS had congenital heart defects.
- Supravalvular aortic stenosis was the most frequent defect (56%), followed by combined lesions.
- Unique cases included incomplete atrioventricular defect and bicuspid aortic valve.
Conclusions:
- Cardiovascular anomalies, particularly supravalvular aortic stenosis, are highly prevalent in children with Williams-Beuren syndrome.
- Clinical vigilance for cardiac issues is crucial in the management of WBS patients.
Abstract:
In this study, we have identified and evaluated the cardiovascular anomalies associated with Williams-Beuren syndrome in children.In a retrospective, lineal, and observational study, we reviewed the files of children who were seen from 1980 through 2005 (25 years) after a clinical diagnosis of Williams-Beuren syndrome.Forty children were diagnosed with this syndrome at the National Institute of Pediatrics in Mexico City. Of these, 32 (80%) were found to have congenital heart defects. The male-to-female ratio was 1.3:1 and ages ranged from 6 months to 15 years (mean, 4.4 years) at the time of diagnosis. All of the patients had morphologic and genetic characteristics typical of the syndrome.We emphasize the cardiovascular aspects from a clinical point of view. Supravalvular aortic stenosis was our most frequent finding, in 18 of 32 patients (56%); gradient differences in these patients ranged from 14 to 81 mmHg. Five patients showed combined lesions, the most frequent being supravalvular aortic stenosis in combination with pulmonary artery brachial stenosis, or with atrial and ventricular defects. Patients with incomplete atrioventricular defect and bicuspid aortic valve, as were seen at our hospital, have not to our knowledge been reported in other studies.One of the patients was scheduled for balloon dilation; another was scheduled for surgery; a 3rd patient was operated on twice for the placement of an aorto-aortic bridge; another underwent ventricular septal defect closure; and yet another underwent aortoplasty, this last dying shortly after surgery.
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