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

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
Nick Si Rui LanDavid Playford

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.

Citations

Jul 11, 2020·Current Cardiology Reports·Josef Finsterer, Claudia Stöllberger
Sep 7, 2019·International Journal of Molecular Sciences·Andreas BrodehlHendrik Milting
Jul 16, 2021·Progress in Cardiovascular Diseases·Fatemeh AdabifirouzjaeiAnthony Nicholas DeMaria

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