Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Ital J Pediatr. 2012 Nov 16:38:65. doi: 10.1186/1824-7288-38-65.

Abstract

Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been described: type VII A and VII B. The abnormally processed collagen α2(I) and the skipping of the exon 6 in COL1A2 gene are typically detected in EDS type VII B. We describe a seven-year old female, with a phenotype consistent with EDS type VII B and a diagnosis further confirmed by biochemical and molecular analyses. Cardiac ultrasound showed normal data in the first year of life. When she was 5 years old, the patient developed mitral valve regurgitation, and aortic and tricuspidal insufficiency at 7 years of age. To our knowledge, this is the first report of cardiac valvular involvement in EDS VII B. This feature probably has been underreported for the limited follow-up of the patients. Echocardiography might be warranted in the clinical assessment of EDS VII patients.

Publication types

  • Case Reports

MeSH terms

  • Aortic Valve Insufficiency / diagnosis*
  • Aortic Valve Insufficiency / genetics
  • Child
  • Collagen Type I / genetics
  • Diagnosis, Differential
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics
  • Enzyme Inhibitors / metabolism
  • Exons
  • Female
  • Follow-Up Studies
  • Humans
  • Joint Instability / genetics
  • Mitral Valve Insufficiency / diagnosis*
  • Mitral Valve Insufficiency / genetics
  • Mutation
  • Phenotype
  • Skin Abnormalities / genetics
  • Tricuspid Valve Insufficiency / diagnosis*
  • Tricuspid Valve Insufficiency / genetics

Substances

  • Collagen Type I
  • Enzyme Inhibitors

Supplementary concepts

  • Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant