Abstract
Purpose
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 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.
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.
Objectif
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.
Méthode
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
Résultats
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.
Conclusion
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.
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References
Dobell RC, Truster GA, Smallhorn JF, Williams WG. Atrial thrombi after the Fontan operation. Ann Thorac Surg 1986; 42: 664–7.
Okita Y, Miki S, Kusuhara K, et al. Massive systemic venous thrombosis after Fontan operation: report of a case. Thorac Cardiovasc Surg 1988; 36: 234–6.
Franklin WH, Norwood WI. Management of complications related to the Fontan procedure.In: Waldhausen JA, Orringer MB (Eds.). Complications in Cardiothoracic Surgery. St. Louis: Mosby Year Book, 1991: 202–11.
Jahangiri M, Shore D, Kakkar V, Lincoln C, Shinebourne E. Coagulation factor abnormalities after the Fontan procedure and its modification. J Thorac Cardiovasc Surg 1997; 113: 989–93.
Samaha M, Trossaert M, Conard J, Horellou MH, Elalamy I, Samama MM. Prevalence and patient profile in activated protein C resistance. Am J Clin Pathol 1995; 104: 450–4.
Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet 1993; 342: 1503–6.
Nuss R, Hays T, Manco-Johnson M. Childhood thrombosis. Pediatrics 1995; 96: 291–1.
Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Nad Acad Sci (USA) 1993; 90: 1004–8.
Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64–7.
Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517–22.
Glauser TA, Rorke LB, Weinberg PM, Clancy RR. Congenital brain anomalies associated with the hypoplastic left heart syndrome. Pediatrics 1990; 85: 984–90.
Yandava CN, Zappulla DC, Korf BR, Neufeld EJ. ARMS test for diagnosis of factor V Leiden mutation, a common of inherited thrombotic tendency. J Clin Lab Anal 1996; 10: 414–7.
Tait RC, Walker ID, Reitsma PH, et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemost 1995; 73: 87–93.
Manno CS, Hedberg KW, Kim HC, et al. Comparison of the hemostaric effects of fresh whole blood, stored whole blood, and components after open heart surgery in children. Blood 1991;77: 930–6.
Turner-Gomes SO, Mitchell L, Williams WG, Andrew M. Thrombin regulation in congenital heart disease after cardiopulmonary bypass operations. J Thorac Cardiovasc Surg 1994; 107: 562–8.
Knöbl PN, Zilla, P, Fasol R, Müller MM, Vukovich TC. The protein C system in patients undergoing cardiopulmonary bypass. J Thorac Cardiovasc Surg 1987; 94: 600–5.
Ankola P, Nardi M, Karpatkin M. Functional activity of protein C in newborn infants. A report of a study and a review of the literature. Am J Pediatr Hematol Oncol 1992; 14: 140–3.
Boldt J, Knothe C, Schindler E, Welters A, Dapper FF, Hempelmann G. Thrombomodulin in pediatric cardiac surgery. Ann Thorac Surg 1994; 57: 1584–9.
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Ong, BC., Zimmerman, A.A., Zappulla, D.C. et al. Prevalence of factor V Leiden in a population of patients with congenital heart disease. Can J Anaesth 45, 1176–1180 (1998). https://doi.org/10.1007/BF03012459
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DOI: https://doi.org/10.1007/BF03012459