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Spectrum of cardiovascular anomalies in Williams-Beuren syndrome
E Zalzstein1, C A Moes, N N Musewe
1Department of Pediatrics, Hospital for Sick Children, Toronto, Canada.
Insights
Williams-Beuren syndrome often involves cardiovascular anomalies, primarily supravalvular aortic stenosis and pulmonary artery stenosis. Some children require surgery, while others show stable or improving conditions over time.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Williams-Beuren syndrome is a genetic disorder associated with cardiovascular abnormalities.
- Cardiovascular anomalies are a significant cause of morbidity in children with Williams-Beuren syndrome.
Purpose of the Study:
- To identify and characterize the spectrum of cardiovascular anomalies in children with Williams-Beuren syndrome.
- To analyze the progression and management of these anomalies.
Main Methods:
- Retrospective review of 49 children diagnosed with Williams-Beuren syndrome and cardiovascular anomalies.
- Classification of patients into four groups based on cardiovascular findings.
- Longitudinal follow-up to assess disease progression and outcomes.
Main Results:
- Supravalvular aortic stenosis was the most common anomaly (28 patients), with some requiring surgery.
- Isolated pulmonary artery branch stenosis occurred in 8 patients, mostly mild and stable.
- Combined lesions were present in 11 patients, with variable progression.
- Other anomalies included peripheral artery stenosis, coronary artery abnormalities, mitral valve prolapse, and coarctation of the aorta.
Conclusions:
- Williams-Beuren syndrome presents a diverse range of cardiovascular anomalies in children.
- Management strategies vary based on the specific anomaly and its severity.
- Regular monitoring is crucial for detecting progression and guiding interventions.
Abstract:
This study is presented to identify and characterize the spectrum of the cardiovascular anomalies in children presenting with Williams-Beuren syndrome and cardiovascular anomalies at The Hospital for Sick Children, Toronto from 1966 to 1988. Forty-nine children were diagnosed and followed. The female to male ratio was 1.2:1. The age ranged from 1 month to 14 years at the time of diagnosis (mean 39 months), and follow-up periods were from 9 months to 20 years (mean 10 years). All patients having the typical features were also evaluated by geneticists. Based on cardiovascular findings four groups were identified. Group 1 had isolated supravalvular aortic stenosis (SVAS) (28 patients). There was follow-up in 24 of these children. Six had worsening of supravalvular narrowing and underwent surgery. One showed an increased gradient from 10-40 mmHg during 7 years. Seventeen had mild narrowing and showed no progression over a period of 75 months. Group 2 had isolated pulmonary artery branch stenosis (8 patients). Seven had mild narrowing which remained unchanged over a mean period of 16 months and one underwent surgery. Group 3 had combined lesions (11 patients). Six showed increased left-side narrowing, while right-side obstruction remained static or improved. Five showed improvement in narrowing in both outflow tracts. Five underwent surgery. Additional cardiovascular anomalies included peripheral artery stenosis in two patients, coronary artery abnormalities in three, mitral valve prolapse in three, and coarctation of the aorta in two. Group 4 had isolated lesions. One patient had isolated coarctation of the aorta and one isolated mitral prolapse.(ABSTRACT TRUNCATED AT 250 WORDS)