Very rare minor homozygous GG genotype of tissue factor +5466A>G mutation in a patient with two cryptogenic cerebrovascular ischemic events

Int J Cardiol. 2011 Feb 17;147(1):e13-5. doi: 10.1016/j.ijcard.2009.01.009. Epub 2009 Feb 8.

Abstract

We identified a male Polish patient with a very rare minor homozygous GG genotype of the tissue factor (TF) +5466A>G polymorphism, who within two months experienced a transient ischemic attack (TIA) and ischemic stroke of unknown origin associated with the presence of patent foramen ovale below 40 years of age. A relationship between the TF +5466GG genotype and cerebrovascular thromboembolic events could be explained by detectable coagulant TF activity determined in a clotting assay and increased immunoreactive TF levels detected in plasma 5 years after the previous TIA and stroke. Given the role of TF-induced pathway in blood coagulation, it might be speculated that the TF +5466A>G polymorphism, especially in the homozygous GG form, predisposes to increased risk of cerebrovascular ischemic events. There is a need to conduct a prospective study on the effect of TF +5466A>G polymorphism on the risk of cryptogenic stroke.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Ischemia / diagnosis
  • Brain Ischemia / genetics
  • Homozygote*
  • Humans
  • Ischemic Attack, Transient / diagnosis
  • Ischemic Attack, Transient / genetics*
  • Male
  • Mutation / genetics*
  • Polymorphism, Genetic / genetics
  • Stroke / diagnosis
  • Stroke / genetics*
  • Thromboplastin / genetics*

Substances

  • Thromboplastin