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Cardiac Valve Disease: An Unreported Feature in Ehlers Danlos Syndrome Arthrocalasia Type?

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source: Italian journal of pediatrics

year: 2012

authors: Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G


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.

organization: Federico II University

DOI: 10.1186/1824-7288-38-65

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