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[Supravalvular aortic stenosis in two black patients]
C B Benchimol1, J O Araújo, J G Féres
1Hospital Universitário Clementino Fraga Filho, Universidade Federal, Rio de Janeiro.
Arquivos Brasileiros De Cardiologia
|October 1, 1991
Summary
Williams syndrome, a rare genetic disorder, was identified in two young black males with supravalvular aortic stenosis. Surgical intervention proved effective, with patients remaining asymptomatic post-operation.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Williams syndrome is a rare genetic disorder characterized by a distinctive facial appearance and cardiovascular abnormalities.
- Supravalvular aortic stenosis (SVAS) is a common manifestation of Williams syndrome, involving narrowing of the aorta above the aortic valve.
Observation:
- Two male patients of black ethnicity, aged 12 and 18, presented with severe SVAS and features consistent with Williams syndrome.
- This presentation marks the first documented case of classical Williams syndrome in black patients.
Findings:
- Both patients underwent successful surgical correction of the supravalvular aortic stenosis.
- Following surgery, both patients exhibited asymptomatic recovery with long-term follow-up of one and four years.
Implications:
- This case report expands the known ethnic diversity of Williams syndrome.
- It highlights the importance of recognizing Williams syndrome in diverse populations presenting with SVAS.
- Successful surgical outcomes underscore the efficacy of timely intervention for SVAS in Williams syndrome.