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

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 t...

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Autores principales: Melis, Daniela, Cappuccio, Gerarda, Ginocchio, Virginia Maria, Minopoli, Giorgia, Valli, Maurizia, Corradi, Massimiliano, Andria, Generoso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545852/
https://www.ncbi.nlm.nih.gov/pubmed/23158907
http://dx.doi.org/10.1186/1824-7288-38-65
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author Melis, Daniela
Cappuccio, Gerarda
Ginocchio, Virginia Maria
Minopoli, Giorgia
Valli, Maurizia
Corradi, Massimiliano
Andria, Generoso
author_facet Melis, Daniela
Cappuccio, Gerarda
Ginocchio, Virginia Maria
Minopoli, Giorgia
Valli, Maurizia
Corradi, Massimiliano
Andria, Generoso
author_sort Melis, Daniela
collection PubMed
description 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.
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spelling pubmed-35458522013-01-17 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 Ital J Pediatr Case Report 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. BioMed Central 2012-11-16 /pmc/articles/PMC3545852/ /pubmed/23158907 http://dx.doi.org/10.1186/1824-7288-38-65 Text en Copyright ©2012 Melis et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Melis, Daniela
Cappuccio, Gerarda
Ginocchio, Virginia Maria
Minopoli, Giorgia
Valli, Maurizia
Corradi, Massimiliano
Andria, Generoso
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
title Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
title_full Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
title_fullStr Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
title_full_unstemmed Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
title_short Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
title_sort cardiac valve disease: an unreported feature in ehlers danlos syndrome arthrocalasia type?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545852/
https://www.ncbi.nlm.nih.gov/pubmed/23158907
http://dx.doi.org/10.1186/1824-7288-38-65
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