Computerized Tomography Use in Williams-Beuren Syndrome Aortopathy

Area of Science:

• Genetics
• Cardiology
• Pediatrics

Background:

• Williams-Beuren syndrome is a genetic disorder resulting from a deletion on chromosome 7q11.23, impacting multiple systems.
• Cardiovascular abnormalities, particularly supravalvular aortic stenosis (SVAS), are prevalent in approximately 70% of individuals with this syndrome due to elastin gene insufficiency.

Observation:

• This report details a case involving a 4-year-old boy diagnosed with Williams-Beuren syndrome and SVAS.
• Computerized tomography angiography was utilized to precisely assess the extent of aortopathy prior to surgical intervention.

Findings:

• The case underscores the frequent association between Williams-Beuren syndrome and SVAS.
• Pre-operative imaging is crucial for evaluating the severity and scope of cardiovascular lesions.

Implications:

• Accurate assessment of arteriopathy extent is vital for successful surgical correction of SVAS in Williams-Beuren syndrome patients.
• Understanding the spectrum of cardiovascular involvement guides therapeutic strategies and predicts patient outcomes.