Canadian Journal of Anaesthesia

, Volume 45, Issue 12, pp 1176–1180 | Cite as

Prevalence of factor V Leiden in a population of patients with congenital heart disease

  • Biauw-Chi Ong
  • A. Andrew Zimmerman
  • David C. Zappulla
  • Ellis J. Neufeld
  • Frederick A. Burrows
Reports of Investigation



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.


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.


The prevalence of FVLeideri 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.


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.


L’incidence de complications thrombotiques survenant à la suite d’une circulation extracorporelle (CEC) chez des patients qui subissent une chirurgie réparatrice ou palliative d’une malformation cardiaque congénitale (MCC) sont aussi élevés que 16%. La protéine C, une protéase intrinsèque d’anticoagulation qui, une fois activée, inhibe le facteur Va du système de coagulation, aide à maintenir un équilibre normal entre les effets procoagulant et anticoagulant. La résistance du facteur Va à la dégradation par la protéine C activée se produisant, elle prédispose à des accidents thrombotiques. La résistance du facteur Va à une telle dégradation est, dans la majorité des cas, causée par une mutation génétique appelée facteur F Leiden (FVLeiden). La présence du FVLeiden peut être prouvée par une analyse à base d’ADN. La prévalence du FVLeiden n’a pas été déterminée chez les patients qui présentent une MCC et notre étude s’est donc fixé comme objectif de le faire.


On a étudié deux cents patients successifs souffrant de MCC devant subir une chirurgie réparatrice ou palliative qui nécessite une circulation extracorporelle. On a prélevé du sang avant la transfusion homologue et on l’a analysé selon une méthode à base d’ADN, utilisant l’amplification en chaîne par polymérase, pour identifier la mutation du FVLeiden


Dans notre étude de population, la prévalence du FVLeiden était de 9/200 (4,5 %). Aucun des patients ne présentait de complications thrombotiques. Toutefois, trois patients (1,5 %) chez qui on n’a pas découvert de mutation du FVLiden, ont développé des complications thrombotiques postopératoires.


La prévalence du FVLeiden chez les patients de notre étude est de 4,5 %, ce qui n’est pas différent de la prévalence qu’on retrouve dans la population générale. On n’a pu associer l’occurrence d’incidents thrombotiques postopératoires à quelque cause identifiable.


Congenital Heart Disease Factor Versus Thrombotic Event Hypoplastic Left Heart Syndrome Congenital Heart Defect 


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Copyright information

© Canadian Anesthesiologists 1998

Authors and Affiliations

  • Biauw-Chi Ong
    • 1
  • A. Andrew Zimmerman
    • 1
  • David C. Zappulla
    • 2
  • Ellis J. Neufeld
    • 2
  • Frederick A. Burrows
    • 1
  1. 1.Department of AnaesthesiaChildren Hospital and Harvard Medical SchoolBoston
  2. 2.Department of PediatricsChildren Hospital and Harvard Medical SchoolBoston

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