Williams syndrome

Case contributed by Dr Fabien Ho

Presentation

History of surgery for supra-valvular aortic stenosis and supra-valvular pulmonary stenosis, with plasty of the left main coronary artery.

Patient Data

Age: 16 years
Gender: Female
CT

Cardiac CT

Right outflow tract: MPA, left PA and right PA are normal. However, concerning the lobar PAs and segmental PAs, there are multiple bilateral stenoses followed by post-stenotic dilations.RV walls are thickened.

Left outflow tract:  Small but regular thoracic aorta. Tricuspid aortic valve.

Coronaries: Hypoplasic RCA. Normal LMA, LAD, and Cx.

Case Discussion

Williams syndrome (or Williams-Beuren syndrome) is a rare microdeletion anomaly concerning chromosome 7, mostly sporadic, leading to the deletion of several genes among which the ELN gene.

Clinical features: multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity).

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Case information

rID: 73226
Published: 1st Jan 2020
Last edited: 5th Jan 2020
Inclusion in quiz mode: Included
Institution: Clinique Sainte Clotilde

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