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

Cardiovasc Pathol. 2018 Jul-Aug:35:48-51. doi: 10.1016/j.carpath.2018.04.006. Epub 2018 Apr 24.

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.

Publication types

  • Case Reports
  • Video-Audio Media

MeSH terms

  • Adult
  • Collagen Type III / genetics
  • DNA Mutational Analysis
  • Echocardiography
  • Ehlers-Danlos Syndrome / drug therapy
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / pathology*
  • Ehlers-Danlos Syndrome / physiopathology
  • Genetic Predisposition to Disease
  • Humans
  • Isolated Noncompaction of the Ventricular Myocardium / drug therapy
  • Isolated Noncompaction of the Ventricular Myocardium / genetics
  • Isolated Noncompaction of the Ventricular Myocardium / pathology*
  • Isolated Noncompaction of the Ventricular Myocardium / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Myocardium / pathology*
  • Phenotype
  • Treatment Outcome

Substances

  • COL3A1 protein, human
  • Collagen Type III