[Patent foramen ovale: "les liaisons dangereuses" between anatomy and genetics]

Recenti Prog Med. 2009 Jul-Aug;100(7-8):356-60.
[Article in Italian]

Abstract

We reported a case of two 24-year-old and 17-year-old male patients with episode of transient ischemic attacks and diagnosed as having patent foramen ovale (PFO). One patient had heterozygosity for the factor V Leiden mutation, and one other had heterozygosity for prothrombin G20210A mutation. Both of them were also carriers for MTHFR 677T genotype with elevated plasma levels of homocysteine (22.3 +/- 3.9 micromol/L). These findings strongly confirm and emphasize the importance of the genetic screening for thrombotic mutations in young patients with PFO-related ischemic events in order to improve secondary prevention strategies.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Factor V / genetics*
  • Foramen Ovale, Patent / blood
  • Foramen Ovale, Patent / complications
  • Foramen Ovale, Patent / diagnosis
  • Foramen Ovale, Patent / genetics*
  • Genetic Markers*
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genotype
  • Homocysteine / blood
  • Humans
  • Ischemic Attack, Transient / genetics
  • Male
  • Point Mutation*
  • Prothrombin / genetics*
  • Risk Assessment
  • Risk Factors

Substances

  • Genetic Markers
  • factor V Leiden
  • Homocysteine
  • Factor V
  • Prothrombin