Prevalence of factor V Leiden in a population of patients with congenital heart disease.
OBJECTIVE
The incidence of thrombotic events following cardiopulmonary bypass (CPB) in patients receiving surgical repair or palliation of congenital heart defects (CHD) is as high as 16%. Protein C, an intrinsic anticoagulation protease which, when activated, breaks down factor Va of the coagulation system, aids in maintaining a normal procoagulant/anticoagulant balance. Resistance of factor Va to degradation by activated protein C occurs and predisposes to thrombotic events. The resistance of factor Va to such degradation is, in the majority of cases, due to a genetic mutation referred to as factor V Leiden (FVLeiden). The presence of FVLeiden can be diagnosed using a DNA based assay. The prevalence of FVLeiden in the with CHD has not been determined. The objective of this study was to determine the prevalence of FVLeiden in patients with CHD.


METHODS
Two hundred consecutive patients with CHD undergoing surgical repair or palliation requiring cardiopulmonary bypass were studied. Blood was taken before administration of homologous blood transfusion and assayed using a DNA based method with polymerase chain reaction amplification for the FVLeiden mutation.


RESULTS
The prevalence of FVLeiden in our study population was 9/200 (4.5%). None of these patients demonstrated thrombotic complications. However, three patients (1.5%) without the FVLeiden mutation developed postoperative thrombotic complications.


CONCLUSIONS
The prevalence of FVLeiden in patients is 4.5% that is not different from that of the population at large. There was no identifiable association with the occurrence of postoperative thrombotic events.
Department of Anaesthesia, Children Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
B C
BC
Ong
A A
AA
Zimmerman
D C
DC
Zappulla
E J
EJ
Neufeld
F A
FA
Burrows
D000925:Anticoagulants / Q000378:metabolism; D001803:Blood Transfusion; D002315:Cardiopulmonary Bypass / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D005165:Factor V / Q000032:analysis* / Q000235:genetics; D015943:Factor Va / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000097:blood* / Q000601:surgery; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D010166:Palliative Care; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011486:Protein C / Q000378:metabolism; D013927:Thrombosis / Q000209:etiology
D000925:Anticoagulants; D011486:Protein C; C095381:factor V Leiden; D015943:Factor Va; D005165:Factor V; D004247:DNA