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[Williams syndrome. Considerations on an unusual case]
M G Alpigiani1, G Franzone, M G Puleo
1Ia Clinica Pediatrica, Istituto G. Gaslini, Genova, Italia.
Summary
Williams syndrome (WS) in an 8-year-old presented with intellectual disability and congenital heart disease. Surgical repair of isthmic aortic stenosis was successful, with late-diagnosed aortic coarctation showing no hemodynamic impact.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Williams syndrome (WS) is a genetic disorder associated with various congenital anomalies, including cardiovascular defects.
- Intellectual disability is a common feature of WS, often presenting in early childhood.
Observation:
- A case of WS diagnosed at age eight due to intellectual disability and congenital heart disease of unknown origin.
- Echocardiography and Doppler revealed isthmic aortic stenosis requiring surgical intervention.
Findings:
- Successful aortic plastic surgery was performed for isthmic aortic stenosis.
- Aortic coarctation was diagnosed late but did not cause significant hemodynamic compromise.
Implications:
- This case highlights the importance of comprehensive cardiovascular evaluation in patients with WS.
- Late diagnosis of certain cardiac anomalies in WS may not always lead to severe hemodynamic alterations.