Williams-Beuren syndrome: computed tomography imaging review

Area of Science:

• Cardiology
• Genetics
• Radiology

Background:

• Williams-Beuren syndrome (WBS) is a rare genetic disorder affecting infants and children.
• It stems from elastin gene mutations, impacting arterial wall elasticity and leading to cardiovascular abnormalities.
• Common issues include supravalvular aortic stenosis and pulmonary arterial stenosis, with potential for sudden death.

Purpose of the Study:

• To review and present key imaging findings of WBS cardiovascular abnormalities using multidetector computed tomography (MDCT).
• To enhance radiologists' understanding of WBS imaging characteristics for earlier diagnosis.
• To summarize clinically relevant features of WBS as demonstrated by MDCT.

Main Methods:

• Retrospective analysis of imaging data from WBS patients over 4 years.
• Review of existing literature on WBS imaging characteristics.
• Focus on multidetector computed tomography (MDCT) findings.

Main Results:

• MDCT is effective in evaluating complex cardiovascular abnormalities in WBS, including coronary artery disease.
• Imaging findings can sometimes precede clinical presentation, aiding early diagnosis.
• MDCT provides crucial information for managing arterial changes in WBS.

Conclusions:

• Cross-sectional imaging, particularly MDCT, is vital for diagnosing WBS, especially with unclear clinical features.
• MDCT facilitates accurate assessment of cardiovascular abnormalities in WBS.
• Future MDCT applications may reduce reliance on invasive procedures for WBS management.