: 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.

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? / Melis, Daniela; Cappuccio, Gerarda; Ginocchio, Virginia Maria; Minopoli, Giorgia; Valli, Maurizia; Corradi, Massimiliano; Andria, Generoso. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 38:1(2012), p. 65. [10.1186/1824-7288-38-65]

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

Melis, Daniela;Cappuccio, Gerarda;Ginocchio, Virginia Maria;Minopoli, Giorgia;Andria, Generoso
2012

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.
2012
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? / Melis, Daniela; Cappuccio, Gerarda; Ginocchio, Virginia Maria; Minopoli, Giorgia; Valli, Maurizia; Corradi, Massimiliano; Andria, Generoso. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 38:1(2012), p. 65. [10.1186/1824-7288-38-65]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/906839
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