Computerized tomography use in Williams–Beuren syndrome aortopathy

Abstract

Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definitive therapy for supravalvar aortic stenosis consists of surgical correction of the arteriopathies. Outcomes after surgical correction of SVAS depend on the extent of the arteriopathy and the presence of other associated lesions. We present a case of a 4-year-old boy, with Williams - Beuren syndrome with an SVAS. The patient was assessed with computerized tomography angiography to determine the extent of the aortopathy before surgical intervention.

The importance of FDG PET/CT in the diagnostic process of the middle aortic syndrome in a 15-year-old boy patient with suspected systemic vasculitis and final diagnosis of Williams–Beuren syndrome

“…Other less common abnormalities include stenosis of the abdominal and thoracic aorta and mid-size arteries, such as the renal arteries and the coronary arteries. Imaging examinations demonstrated generalized arterial wall thickening present even in nonstenotic areas of the arterial tree [1,12,[35][36][37].…”

“…Cardiovascular abnormalities occur frequently in consequence of elastin insufficiency. The syndrome is also characterized by dysmorphic features, idiopathic hypercalcemia, or intellectual disability [9][10][11][12].…”