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 language | English |
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Pages (from-to) | 48-51 |
Number of pages | 4 |
Journal | Cardiovascular Pathology |
Volume | 35 |
DOIs | |
Publication status | Published - 1 Jul 2018 |