Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

Genet Med. 2002 May-Jun;4(3):112-7. doi: 10.1097/00125817-200205000-00003.


Purpose: To determine the prevalence of proximal aortic abnormalities in patients with Ehlers-Danlos syndrome (EDS).

Methods: In a prospective cohort study, aortic measurements by two-dimensional echocardiography were performed on consecutive EDS patients.

Results: Twenty-eight percent (20 of 71) had aortic root dilation (ARD) (> +2 SD above population based norms). Fourteen of 42 individuals with the classical form of EDS (types I/II) and 6 of 29 individuals with the hypermobile form (type III) had ARD, with no gender differences.

Conclusion: ARD is a common finding in EDS. Longitudinal studies are indicated to determine progression of ARD and its clinical significance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aorta / pathology*
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Dilatation, Pathologic
  • Echocardiography
  • Ehlers-Danlos Syndrome / pathology*
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged