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.