A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement

Nick Si Rui Lan, Michael Fietz, Nicholas Pachter, Vincent Paul, David Playford

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype.

Original languageEnglish
Pages (from-to)48-51
Number of pages4
JournalCardiovascular Pathology
Volume35
DOIs
Publication statusPublished - 1 Jul 2018

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