Generalized arteriopathy in Williams syndrome: an intravascular ultrasound study.

Objectives: We used intraluminal ultrasound imaging to provide additional information about the vascular pathology in Williams syndrome.

Background: The cardiovascular pathology of Williams syndrome consists of medial hypertrophy in both systemic and pulmonary arteries, which results in lumen narrowing.

Methods: Systemic and pulmonary arteries were examined in vivo using intravascular ultrasound imaging (5F, 30-MHz catheter) in three children with Williams syndrome.

Results: All arteries exhibited severe wall thickening with secondary lumen narrowing. Balloon dilation of a branch pulmonary artery in two children resulted in a significant localized increase in lumen caliber associated with a tear in the vessel wall.

Conclusions: Intravascular ultrasound imaging in patients with Williams syndrome may permit better understanding of the pathophysiology of the syndrome and a more rational approach to therapeutic interventions.