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

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.

Keywords: COL3A1 gene mutation; Cardiomyopathies; Collagen disorder; Echocardiography; Ehlers-Danlos syndrome; Heart valve diseases; Isolated left ventricular noncompaction; Transesophageal echocardiography; Type IV.