High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndrome

BMC Pediatr. 2015 Sep 17;15:126. doi: 10.1186/s12887-015-0445-1.


Background: A high incidence of cardiovascular (CV) risk factors has been reported in adults with Williams-Beuren syndrome (WS). However, the prevalence of these factors in children and adolescents with WS is unknown. Therefore, the purpose of this study was to evaluate the prevalence of CV risk factors in these patients.

Methods: Thirty-two WS patients aged <18 years were enrolled in the study. Oxidized low-density lipoprotein levels (n = 32), oral glucose tolerance test results (n = 20), plasma renin and aldosterone levels (n = 31), 24-h ambulatory blood pressure (ABP; n = 24), carotid artery intima-media thickness (IMT; n = 15), and brachial artery flow-mediated dilatation (FMD; n = 15) were measured and analyzed.

Results: The lipid profile revealed hypercholesterolemia in 22% and elevated oxidized low-density lipoprotein levels in 94% of the patients. Glucose metabolism abnormalities were found in 70% of the patients. Insulin resistance was observed in 40% of the patients. High plasma renin and aldosterone levels were detected in 45 and 39% of the patients, respectively. A mean systolic blood pressure above the 90th percentile was noted in 29% of patients. High IMT (>0.65 mm) and low FMD (<9%) were detected in 80 and 73% of patients, respectively.

Conclusion: In patients with WS, CV risk factors are frequently present from childhood. In children with WS, screening tests for the early detection of CV risk factors and long-term follow-up are required to determine whether long-term exposure to these factors increases the risk for CV events in adulthood.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Aldosterone / blood
  • Blood Pressure / physiology
  • Blood Pressure Monitoring, Ambulatory
  • Cardiovascular Diseases / blood
  • Cardiovascular Diseases / epidemiology*
  • Cardiovascular Diseases / etiology
  • Carotid Intima-Media Thickness
  • Child
  • Child, Preschool
  • Elastin / blood
  • Female
  • Humans
  • Infant
  • Japan / epidemiology
  • Lipoproteins, LDL / blood
  • Male
  • Prevalence
  • Risk Factors
  • Williams Syndrome / complications*
  • Williams Syndrome / physiopathology


  • Lipoproteins, LDL
  • Aldosterone
  • Elastin