title: Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
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.
authors.affiliation: Department of Paediatrics, Federico II University, Naples, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Melis
authors.forename: Gerarda
authors.initials: G
authors.lastname: Cappuccio
authors.forename: Virginia Maria
authors.initials: VM
authors.lastname: Ginocchio
authors.forename: Giorgia
authors.initials: G
authors.lastname: Minopoli
authors.forename: Maurizia
authors.initials: M
authors.lastname: Valli
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Corradi
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
mesh_terms: D001022:Aortic Valve Insufficiency / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D024042:Collagen Type I / Q000235:genetics; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics; D004791:Enzyme Inhibitors / Q000378:metabolism; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007593:Joint Instability / Q000235:genetics; D008944:Mitral Valve Insufficiency / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D012868:Skin Abnormalities / Q000235:genetics; D014262:Tricuspid Valve Insufficiency / Q000175:diagnosis* / Q000235:genetics
chemical_list: D024042:Collagen Type I; D004791:Enzyme Inhibitors