Title |
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
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Published in |
Italian Journal of Pediatrics, November 2012
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DOI | 10.1186/1824-7288-38-65 |
Pubmed ID | |
Authors |
Daniela Melis, Gerarda Cappuccio, Virginia Maria Ginocchio, Giorgia Minopoli, Maurizia Valli, Massimiliano Corradi, Generoso Andria |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 33% |
United Kingdom | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 29 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 5 | 17% |
Other | 3 | 10% |
Student > Ph. D. Student | 2 | 7% |
Student > Doctoral Student | 2 | 7% |
Student > Bachelor | 2 | 7% |
Other | 7 | 24% |
Unknown | 8 | 28% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 10 | 34% |
Agricultural and Biological Sciences | 3 | 10% |
Biochemistry, Genetics and Molecular Biology | 2 | 7% |
Unspecified | 1 | 3% |
Chemical Engineering | 1 | 3% |
Other | 4 | 14% |
Unknown | 8 | 28% |