A 2-year-old girl with tetralogy of Fallot presented with diffuse cranial infarct after cardiac angiography. Heterozygosity for factor V Leiden and prothrombin 20210A mutations were detected. The authors suggest that if thrombosis develops in patients with congenital heart disease, genetic risk factors should be evaluated.
Cottrill CM, Kaplan S.Cerebral vascular accidents in cyanotic congenital heart disease. Am J Dis Child. 1973; 125:484-487.
2.
Tegeler CH, Downes TRThrombosis and the heart. Semin Neurol. 1991 ;11:339-352.
3.
Bonduel M., Sciuccati G., Hepner M., et al. Factor V Leiden and prothrombin gene G20210A mutation in children with cerebral thromboembolism. Am J Hematol. 2003;73:81-86.
4.
Heller C., Heinecke A., Junker R., et al; Childhood Stroke Study Group.Cerebral venous thrombosis in children: a multifactorial origin. Circulation. 2003;108:1362-1367.
5.
Mercuri E., Cowan F., Gupte G., et al. Prothrombotic disorders and abnormal neurodevelopmental outcome in infants with neonatal cerebral infarction. Pediatrics. 2001;107:1400-1404.
6.
Lalouschek W. , Aull S., Series W., Zeiler K.The prothrombin G20210A mutation and factor V Leiden mutation in patients with cerebrovascular disease. Blood. 1998;92:704-705.
7.
Akar N., Akar E., Deda G., Sipahi T., Ezer U.Coexistence of two prothrombotic mutations, factor V 1691 G-A and prothrombin gene 20210 G-A, and the risk of cerebral infarct in pediatric patients. Pediatr Hematol Oncol. 1999;16:565-566.
8.
McColl MD , Chalmers EA, Thomas A., et al. Factor V Leiden, prothrombin 20210G-A and the MTHFR C677T mutations in childhood stroke. Thromb Haemost. 1999; 81:690-694.
9.
Zenz W., Bodo Z., Plotho J., et al. Factor V Leiden and prothrombin gene G20210A variant in children with ischemic stroke. Thromb Haemost. 1998 ;80:763-766.
10.
Martinelli I., Franchi F., Akwan S., et al. The transition G to A at position 20210 in 3’-untranslated region of the prothrombin gene is not associated with cerebral ischemia. Blood. 1997;90:3806.
11.
Gandrille S. , Alhenc-Gelas M., Aiach M.A rapid screening method for the Factor V Arg 506 Gln mutation. Blood Coagul Fibrinolysis. 1995;6:245-248.
12.
Poort SR, Rosendaal FR, Reitsma PH, Bertina RMA common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and increase in venous thrombosis. Blood. 1996;88:3698-3703.
13.
Ozsoylu S., Demirsoy F.Oxygen concentration and factor VIII procoagulant activity. Acta Haematol. 1982;68: 333-336.
14.
Gurgey A., Ozyurek E., Gümrük F., et al. Thrombosis in children with cardiac pathology: frequency of factor V Leiden and prothrombin G20210A mutations. Pediatr Cardiol. 2003;24:244-248.
15.
Corral J., Zuazu-Jausoro I., Rivera J., et al. Clinical and analytical relevance of the combination of prothrombin 20210A/A and Factor V Leiden: results from a large family. Br J Haematol. 1999;105:560-563.
16.
Marchiori A. , Mosena L., Prins HM, Prandoni P.The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation: a systematic review of prospective studies. Haematologica . 2007;92:1107-1114.
17.
Balasa VVNew anticoagulants: a pediatric perspective. Pediatr Blood Cancer. 2005;45:741-752.
18.
Moll S., Roberts HROverview of anticoagulant drugs for the future. Semin Hematol . 2002;39:145-157.
19.
Gabrielle V.In pursuit of evidence-based treatments for paediatric stroke: the UK and Chest guidelines. Lancet Neurol.2005;4:432-436.