%0 Journal Article
%T Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
%A Melis Daniela
%A Cappuccio Gerarda
%A Ginocchio Virginia
%A Minopoli Giorgia
%J The Italian Journal of Pediatrics
%D 2012
%I BioMed Central
%R 10.1186/1824-7288-38-65
%X 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 ¦Á2(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.
%K Ehlers Danlos syndrome type VII B
%K Macrocephaly
%K Cardiac valve regurgitation
%U http://www.ijponline.net/content/38/1/65