Williams syndrome with midaortic syndrome

Case contributed by Dr Henry Knipe

Presentation

Hypertension and renal failure.

Patient Data

Age: 12 years
Gender: Female
Modality: X-ray

Cardiac silhouette is mildly enlarged. Absent aortic arch and descending aorta silhouette. 

Modality: CT

The descending thoracic and abdominal aorta is very small calibre. Origins of the renal arteries, coeliac trunk and superior mesenteric arteries are also narrowed. Enlarged arc of Riolan. 

Case Discussion

Williams syndrome can be a cause of midaortic syndrome via an elastin arteriopathy in approximately 50% of patients. Midaortic syndrome is a rare cause (0.5-2%) of aortic coarctations. There is severe narrowing of the abdominal aorta, often with involvement of  the coeliac trunk and superior mesenteric artery (~30%) and renal arteries (90%).

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Case Information

rID: 41319
Case created: 25th Nov 2015
Last edited: 12th Feb 2016
Inclusion in quiz mode: Included

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