Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction

Association of genetic polymorphisms in the fibrinogen and platelet glycoprotein genes with unstable angina in Chinese patients

“…18 As far as we know, there is only one study demonstrating the association between 448G/A polymorphism and MI. French et al 9 reported that patients without flow-limiting stenosis after MI have increased frequencies of B␤ fibrinogen 448A allele, compared with patients with ≥ 1 flow-limiting stenosis (42 vs. 27%, OR 2.0, 95% CI 1.1-3.5, p = 0.018), while in this study we found that the frequency of 448A allele was higher in patients with UA and at least one coronary stenosis ≥50%. The subjects enrolled in the former study were all survivors of MI, and angiography was performed 1 month after MI.…”

“…8 Furthermore, an increased frequency of B␤ fibrinogen 448A allele has been found in patients without flow-limiting stenosis after myocardial infarction (MI) compared with patients with ≥ 1 flow-limiting stenosis. 9 A recent report that Ala312 of the A␣ fibrinogen Thr312Ala polymorphism can influence clot structure and properties may provide a mechanism by which Ala312 fibrinogen could predispose to clot embolization. 10 The aim of this study was to determine whether the VNTR polymorphism of the GP Ib␣ gene, the Pl A1/A2 polymorphism of GP IIIa, the 448G/A polymorphism of the B␤ fibrinogen, and the Thr312Ala polymorphism of the A␣ fibrinogen gene are associated with UA in Chinese patients.…”

Thrombophilia in 153 Patients With Premature Cardiovascular Disease ≤Age 45

“…In patients who have developed early arterial thrombosis (age 50 [male], 55 [female]), particularly with no apparent cause of arterial occlusion, evaluation for thrombophilia is important as thrombophilia may play a predisposing role in patients with cerebral, coronary, and peripheral vascular ischemia. [1][2][3][4] Arterial thrombotic events have been associated with factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR C677 T) mutations. 5 Atherothrombosis has also been associated with primary antiphospholipid syndrome, 6 reduced protein C activity, 7 and hyperhomocysteinemia, 8,9 among other conditions.…”

Atherothrombotic Disorders

“…8 Available data suggest that a single genetic susceptibility factor may have an important impact on the occurrence of arterial thrombosis only when combined with other genetic and/or acquired risk factors. 11,14,19 On the other hand, there is also evidence that inherited thrombophilic states play a significant role precisely among patients with a low a priori cardiovascular risk profile (eg, young, female, without traditional cardiovascular risk factors). In these cases, it is conceivable that as yet unrecognized or poorly appreciated genetic and/or acquired/environmental conditions interact with the known inherited variants to promote arterial thrombosis.…”

“…3 Notable exceptions, however, may concern individuals who develop arterial thromboses at a young age, 4 -11 are female, 9,11 have no obvious predisposing illnesses or cardiovascular risk factors (hypertension, diabetes, smoking, hypercholesterolemia) other than a family history of thrombosis, 12,13 or have no flow-limiting artery lesions at angiography. 6,12,14 In these groups, an increasing number of reports points to a significantly higher prevalence of thrombophilic gene polymorphisms compared with controls (Table), 4 -14 suggesting a biologically plausible link with arterial thrombosis. On the other hand, because the data come from cross-sectional studies, a survival bias cannot be excluded.…”