Elsevier

The Journal of Pediatrics

Volume 132, Issue 2, February 1998, Pages 354-356
The Journal of Pediatrics

Carotid ultrasound examination in Williams syndrome,☆☆,

https://doi.org/10.1016/S0022-3476(98)70461-5Get rights and content

Abstract

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. (J Pediatr 1998;132:354-6)

Section snippets

Methods

The WS group, referred from an interdisciplinary WS clinic, included 11 male subjects and 9 female subjects ranging in age from 7 months to 24.9 years (mean age at time of examination 8.9 years). Fourteen of the 20 patients (70%) had structural cardiac disease, 9 (45%) of whom had SVAS, pulmonic stenosis, or both. Two patients (10%) had moderate to severe hypertension15 without associated aortic or renal artery stenosis. Fluorescent in situ hybridization studies disclosed an elastin gene

Results

Measurements of combined intimal-medial thickness for both the WS and control subjects (Fig. 3) disclosed no region of overlap.

. Combined intimal-medial thickness of patients with WS and control subjects.

The mean carotid arterial wall thickness of the WS group was 0.84 ± 0.08 mm. Measurements ranged from 0.71 to 0.96 mm. The mean carotid arterial wall thickness of the control group was 0.54 ± 0.05 mm. The range within this group was 0.39 to 0.59 mm. The difference in arterial wall thickness

Discussion

The ultrasonographic finding of increased arterial wall thickness across a wide range of patients with WS demonstrates the pervasive nature of the arteriopathy of this disorder. In contrast to previous reports, which have focused on the vasculopathy of patients with WS with known cardiac disease, this study demonstrates ultrasonographic evidence of increased arterial wall thickness in patients with WS, irrespective of age or clinical status. These findings suggest that the arteriopathy of WS is

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From the Divisions of Genetics and Cardiology, Departments of Pediatrics and Pediatric Radiology, State University of New York at Buffalo and the Children's Hospital, Buffalo.

☆☆

Reprint requests: Laurie S. Sadler, MD, Division of Genetics, Children's Hospital of Buffalo, 219 Bryant St., Buffalo, NY 14222.

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