Cardiovascular manifestations of Williams syndrome: imaging findings

Abstract

Williams syndrome is a relatively common (1 in 10,000 live births) genetic disorder caused by a deletion involving chromosome 7 that results in a variety of clinically significant abnormalities, including developmental delay, behavioral changes, hypercalcemia, and a distinct "elfin" facial appearance. Congenital cardiovascular disease that presents in childhood is responsible for most of the morbidity and mortality associated with this disorder. The purpose of this pictorial essay is to review imaging findings of some of the more common cardiovascular manifestations of Williams syndrome and to highlight some of the unique anatomic variations that can be seen in these patients.

Keywords: Cardiovascular CT angiography; Pediatric cardiothoracic surgery; Pulmonary artery stenosis; Supravalvular aortic stenosis; Williams syndrome.