Prothrombin G20210A mutation, but not factor V Leiden, is a risk factor in patients with persistent foramen ovale and

C Lichy1, K H Reuner, F Buggle

  • 1Department of Neurology, University of Heidelberg, Germany. christoph_lichy@med.uni-heidelberg.de

Abstract

Insights

The prothrombin G20210A mutation is linked to stroke in patients with a persistent foramen ovale (PFO). Factor V Leiden, a common thrombosis risk, was not associated with PFO-related stroke.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Neurology

Background:

  • Persistent foramen ovale (PFO) is a suspected cause of stroke in young adults.
  • Genetic factors for venous thrombosis, such as factor V Leiden (FVL) and prothrombin G20210A mutation (PT G20210A), are investigated as potential contributors.

Purpose of the Study:

  • To determine if the prevalence of FVL and PT G20210A mutations is elevated in patients experiencing cerebral ischemia with a PFO.

Main Methods:

  • Genetic analysis for FVL and PT G20210A mutations was performed.
  • 220 patients with PFO-associated cerebral ischemia, 196 with other stroke etiologies, and 362 healthy controls were studied.

Main Results:

  • The PT G20210A mutation was significantly more common in patients with PFO-associated stroke compared to controls (5.0% vs 1.4%).
  • No significant difference in FVL prevalence was observed between groups.
  • The PT G20210A mutation was not more prevalent in patients with cerebral ischemia of other etiologies.

Conclusions:

  • The PT G20210A mutation, but not FVL, is associated with stroke in patients with PFO.
  • These findings question the dominant role of paradoxical embolism in PFO-associated stroke.

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