Discussion:
Cases of impending paradoxical emboli have been described previously
[7]. In the present case the same prothrombin G2021 mutation was
found in the patient that had been diagnosed in her mother. The
prothrombin G2021 mutation has been described as a low risk factor for
VTE [5]. Nevertheless the combination with other temporary risk
factors such as immobility and smoking may have contributed to the
thrombogenic process [8]. Since the thrombus was imbedded in the PFO
and thus having a high risk for arterial embolization we decided to
perform a surgical embolectomy. A systemic lysis of the thrombus might
have caused arterial embolism with fatal consequences. After the initial
postoperative course the patient was put on phenprocoumon.
In their prospective hazard ratio analysis Coppens et al. do not
recommend mutation analysis on first degree family members as they
reported on just a three-fold risk elevation [5]. As presented in
this case such a mutation in combination with a PFO and other risk
factors could lead to life threatening VTEs. We think in case of
prothrombin G2021 mutation it is mandatory to screen family members for
clinical, cardiac and genetic risk factors for VTEs and to adapt
prevention strategies for VTEs.