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Closure of a Patent Foramen Ovale (PFO): An Intervention Sequence
Published on: December 23, 2022
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
Background:
Paradoxical embolism via persistent foramen ovale (PFO) is suspected to be a frequent cause of stroke in younger patients. We investigated whether the prevalence of the risk factors for venous thrombosis factor V Leiden (FVL) and prothrombin G20210A mutation (PT G20210A) is increased in this group of patients.
Methods:
We examined FVL and PT G20210A mutation in 220 patients (group 1) with cerebral ischemia associated with a PFO and without other etiology, in 196 patients with cerebral ischemia of an etiology other than PFO (group 2), and in 362 healthy subjects (group 3) from the same region in Germany.
Results:
Heterozygosity for the PT G20210A mutation was more common in group 1 (5.0%) than in group 3 (1.4%; sex- and age-adjusted odds ratio 3.66; 95% CI 1.25-10.75; p = 0.01). By contrast, the mutation was not more common in group 2 (2.6%; odds ratio 1.50; 95% CI 0.42-5.41; p = 0.5). Prevalences of FVL were not different between groups.
Conclusions:
We identified PT G20210A but not FVL - the strongest genetic risk factor for deep venous thrombosis - to be significantly associated with stroke attributed to PFO. These findings rise doubts about the concept of paradoxical brain embolism as the dominating mechanism in stroke associated with PFO.
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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