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Article

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

Italian journal of pediatrics - 16 Nov 2012

Melis Daniela, Cappuccio Gerarda, Ginocchio Virginia Maria, Minopoli Giorgia, Valli Maurizia, Corradi Massimiliano, Andria Generoso

Abstract excerpt

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...

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Identifiers

PMID: 23158907
DOI: 10.1186/1824-7288-38-65
PMCID: PMC3545852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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