Cardiovasc Pathol 2018 Apr 24;35:48-51. Epub 2018 Apr 24.
University of Notre Dame, 32 Mouat Street, Fremantle, Western Australia, 6160. Electronic address:
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. Read More