RESUMEN
OBJECTIVE: To noninvasively measure arterial wall thickness in a group of patients with Williams syndrome (WS). METHODS: High-resolution, real-time B-mode ultrasonography was used to examine the carotid arteries of 20 patients with WS (ages 7 months to 24.9 years) and 25 control subjects (ages 2.5 years to 25.5 years). RESULTS: The mean combined intimal-medial wall thickness of the patients in the WS group was 0.86 mm +/- 0.08 mm compared with a mean of 0.54 mm +/- 0.05 mm in the control subjects (p < 0.0001). Within the WS group, arterial wall thickness did not vary significantly with gender, patient age, the presence or absence of stenotic cardiac disease, or the presence or absence of hypertension. CONCLUSIONS: The ultrasonographic finding of increased carotid arterial wall thickness across a wide range of patients with WS demonstrates the pervasive nature of the arteriopathy of this disorder. That increased arterial wall thickness was observed in all patients studied suggests that the arteriopathy of WS is related to haploinsufficiency for the elastin gene.
Asunto(s)
Arterias Carótidas/diagnóstico por imagen , Síndrome de Williams/diagnóstico por imagen , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Túnica Íntima/diagnóstico por imagen , UltrasonografíaRESUMEN
The neurodevelopmental outcome of hypoplastic left heart syndrome in infants remains unclear. All 11 survivors of staged surgical repair of hypoplastic left heart syndrome received standardized neurodevelopmental assessments at one regional children's hospital. Seven children (64%) had major developmental disabilities. Quality-of-life outcomes must be considered when management options for children with hypoplastic left heart syndrome are evaluated.