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.
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.
Authors: Zsolt Urbán; Sheila Riazi; Thomas L Seidl; Jodi Katahira; Leslie B Smoot; David Chitayat; Charles D Boyd; Aleksander Hinek Journal: Am J Hum Genet Date: 2002-05-06 Impact factor: 11.025