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A Minimally Invasive Model of Aortic Stenosis in Swine
Published on: October 20, 2023
Supravalvular aortic stenosis in William's syndrome
Bishav Mohan1, Chander Mohan Mittal
1Department of Cardiology, Dayanand Medical College and Hospital, Ludhiana, India.
Annals of Pediatric Cardiology
|October 7, 2011
Summary
This case study highlights supravalvular aortic stenosis in a 12-year-old diagnosed with William syndrome. The patient presented with multiple physical anomalies and significant cardiac obstruction.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- William syndrome is a rare genetic disorder associated with various medical complications.
- Supravalvular aortic stenosis is a known cardiovascular manifestation of William syndrome.
Purpose of the Study:
- To report a case of supravalvular aortic stenosis in a pediatric patient with William syndrome.
- To emphasize the importance of cardiac evaluation in patients diagnosed with William syndrome.
Main Methods:
- Clinical presentation review of a 12-year-old patient.
- Physical examination findings including pulse volume and heart murmur.
- Diagnostic investigations to confirm supravalvular aortic stenosis and William syndrome.
Main Results:
- The patient exhibited characteristic features of William syndrome, including mental retardation and dysmorphic facial features.
- Physical examination revealed a significant ejection systolic murmur and differential pulse volume.
- Investigations confirmed severe supravalvular aortic stenosis with a pressure gradient of 170 mm Hg.
Conclusions:
- Supravalvular aortic stenosis can present severely in pediatric patients with William syndrome.
- Early diagnosis and management of cardiovascular complications are crucial in William syndrome patients.
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