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Do common prothrombotic mutations influence the risk of
cerebral ischaemia in patients with patent foramen ovale?
Systematic review and meta-analysis
Alessandro Pezzini
1
; Mario Grassi
2
; Elisabetta Del Zotto
1,3
; Alessia Giossi
1
; Irene Volonghi
1
; Paolo Costa
1
;
Armin Grau
4
; Mauro Magoni
5
; Alessandro Padovani
1
; Christoph Lichy
6
1
Dipartimento di Scienze Mediche e Chirurgiche, Clinica Neurologica, Università degli Studi di Brescia, Brescia, Italia;
2
Dipartimento di Scienze
Sanitarie Applicate, Sezione di Statistica Medica e Epidemiologia, Università di Pavia, Pavia, Italia;
3
Dipartimento di Scienze Biomediche e
Biotecnologie, Università degli Studi di Brescia, Brescia, Italia;
4
Department of Neurology, Städtisches Klinikum, Ludwigshafen, Germany;
5
Stroke Unit, Neurologia Vascolare, Spedali Civili di Brescia, Brescia, Italia;
6
Department of Neurology, University of Heidelberg, Heidelberg,
Germany
Summary
Conflicting results are available on the association of prothrom-
botic genetic abnormalities with patent foramen ovale (PFO)-
related cerebral ischaemia. We comprehensively sought and
identified studies of the association of both the factor V Leiden
(FV
G1691A
mutation) and the prothrombin mutation (PT
G20210A
mutation) with PFO-related cerebral ischaemia and did meta-
analyses to assess the evidence for such a relation.We analysed
data from six eligible studies in 856 cases and 1,001 control sub-
jects. Additional unpublished data from a new series including
463 subjects were also entered into the analysis. The PT
G20210A
variant was significantly associated with PFO-related stroke in
comparison with both control subjects (odds ratio [OR] 3.85;
95% confidence interval [CI] 2.22 to 6.66) and non-PFO-associ-
Keywords
Patent foramen ovale, prothrombotic disorders, young, stroke
ated stroke patients (OR 2.31; 95% CI 1.20 to 4.43), whereas a
trend toward an association was observed for the FV
G1691A
mu-
tation (OR 1.18; 95% CI 0.73 to 1.90, compared to control sub-
jects; OR 1.14; 95% CI 0.62 to 2.09, compared to non-PFO-as-
sociated stroke patients). The status of carrier of either the
FV
G1691A
mutation or the PT
G20210A
variant was associated with
a risk for stroke of 1.98 (95% CI 1.38 to 2.83) and 1.62 (95% CI
1.03 to 2.57), as compared to control subjects and non-PFO-as-
sociated stroke patients, respectively. Addition of common pro-
thrombotic genetic variants to standard initial screening may
contribute to stratifying PFO-associated stroke patients at dif-
ferent risk of ischaemic events and targeting secondary preven-
tion strategies.
Thromb Haemost 2009; 101: 813–817
Rapid and Short Communication
Correspondence to:
Alessandro Pezzini
Clinica Neurologica
Università degli Studi di Brescia
P.le Spedali Civili, 1
25100 Brescia, Italia
Tel.: +39 030 3995631/632, Fax: +39 030 3995027
E-mail: ale_pezzini@hotmail.com
Received: November 14, 2008
Accepted after minor revision: January 11, 2009
Prepublished online: March 11, 2009
doi:10.1160/TH08-11-0747
Introduction
Understanding the pathogenic basis of the relation between pat-
ent foramen ovale (PFO) and cerebral ischaemia is critical when
considering whether the inter-atrial cardiac defect is the cause of
the vascular event, and thus, in identifying those high-risk pa-
tients who may benefit from percutaneous transcatheter closure
of their PFO. Recently, several reports have focused on the po-
tential role of an underlying prothrombotic state in predisposing
young PFO carriers to brain embolism. Screening for procoagu-
lant disorders might have an impact on the stratification of risk of
recurrent events in patients with stroke and PFO, and, at an indi-
vidual level, might help clinicians in selecting the most appropri-
ate treatment options in these cases (1, 2). However, the few
studies attempting to assess the association of prothrombotic ab-
normalities with PFO-related stroke have provided conflicting
results (3–8), making any recommendation on whether to screen
for prothrombotic disorders in these patients largely speculative.
We therefore performed a systematic review and meta-analysis
of the published literature regarding the association of the two
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