History of surgery for supra-valvular aortic stenosis and supra-valvular pulmonary stenosis, with plasty of the left main coronary artery.
Loading Stack -
0 images remaining
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.
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).
- 1. Omim.org. (2018). OMIM Entry - # 194050 - WILLIAMS-BEUREN SYNDROME; WBS. [online] Available at: https://omim.org/entry/194050 [Accessed 5 Jan. 2020].