Williams syndrome with midaortic syndrome

Case contributed by Henry Knipe

Presentation

Hypertension and renal failure.

Patient Data

Age: 12 years
Gender: Female

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

The descending thoracic and abdominal aorta is very small caliber. Origins of the renal arteries, celiac 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 celiac trunk and superior mesenteric artery (~30%) and renal arteries (90%).

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