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Clinical significance of factor V G1691A- and prothrombin G20210A-mutations in cerebral infarction and patent foramen ovale

Bernhard Stephan, Joachim-Friedrich Schenk, Aida Beye, Gerhard Pindur
Institute of Clinical Haemostaseology and Transfusion Medicine, University Hospitals of Saarland, Homburg, Germany

[Applied Cardiopulmonary Pathophysiology 16: 32-36, 2012]


The clinical significance of inherited thrombophilia in the pathogenesis of cerebral infarction associated with patent foramen ovale (PFO) is estimated in a different way according to recent reports.  Therefore, 92 patients suffering from ischemic stroke, among them either 46 subjects with or without PFO,  were evaluated in an age- and gender-matched paired case-control study by genetically testing of factor V (FV) G1691A- and prothrombin (PT) G20210A-mutations. Patients with PFO had 19/46 (41.3%) FV- and 3/46 (6.5%) PT-mutations, whereas in patients without PFO only  9/46 (19.6%) FV- and 1/46 (2.2%) PT-mutations were observed. The prevalence of FV-mutations in PFO-patients was significantly higher (OR: 3.12, 95%CI: 1.11-8.95%) compared with patients not having PFO. PT-mutations were more frequently but not significantly  associated with PFO. We conclude from these data that FV G1691A-mutations combined with PFO  play a significant role in the pathogenesis of cerebral infarction. Since FV-mutation, on the other side, is a particular risk factor of venous thrombosis, paradoxical embolism seems to be essential for the occurrence of stroke in association with PFO.

Key words: stroke, foramen ovale, thrombophilia

Correspondence address
Gerhard Pindur, M.D.
Institute of Clinical Haemostaseology and
Transfusion Medicine
University Hospitals of Saarland
66421 Homburg
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