Homozygous factor V Leiden mutation in two siblings presenting with acute myocardial infarction: A rare cause of myocardial infarction in the young

Blood Coagulation and Fibrinolysis

Volumn 16, Issue 4, 2005, Pages 281-286

  Kayikçioǧlu, Meral ^a,b   Hasdemir, Can ^a   Eroǧlu, Zuhal ^a   Kosova, Buket ^a   Can, Levent H ^a   Ildizli, Muge ^a   Yavuzgil, Oguz ^a   Payzin, Serdar ^a   Turkoglu, Cuneyt ^a  

^a EGE UNIVERSITY   (Turkey)

^b NONE   (Turkey)

Author keywords

Acute myocardial infarction; Factor V Leiden mutation; Inherited thrombophilia

Indexed keywords

ACETYLSALICYLIC ACID; ATORVASTATIN; BLOOD CLOTTING FACTOR 5 LEIDEN; CLOPIDOGREL; LISINOPRIL; METOPROLOL; STREPTOKINASE;

ACUTE HEART INFARCTION; ADULT; ANGIOCARDIOGRAPHY; ARTICLE; CARDIOVASCULAR RISK; CASE REPORT; ELECTROCARDIOGRAM; FIBRINOLYTIC THERAPY; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; THORAX PAIN; TRANSTHORACIC ECHOCARDIOGRAPHY;

EID: 18944383209     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mbc.0000169221.38797.9c     Document Type: Article

References (36)

1. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369:64-67.
2. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85:1504-1508.
3. Svensson PJ, Dahlback B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330:517-522.
4. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995; 332:912-917.
5. Çelik S, Uçar F, Baykan M. Factor V Leiden mutation is not a risk factor for myocardial infarction in north-east Turkey. T Klin J Cardiol 2001; 14:104-106.
6. Amowitz LL, Komaroff AL, Miletich JP, Ridker PM. Factor V Leiden is not a risk factor for myocardial infarction among young women. Blood 1999; 93:1432-1433.
7. 506 → t Gln) mutation in young survivors of myocardial infarction. Thromb Haemost 1996; 75:701-702.
8. Van Bockxmeer FM, Baker RI, Taylor RR. Premature ischaemic heart disease and the gene for coagulation factor V [Letter]. Nat Med 1995; 1:185.
9. Inbal A, Freimark D, Modan B, Chetrit A, Matetzky S, Rosenberg N, et al. Synergistic effects of prothrombotic polymorphisms and atherogenic factors on the risk of myocardial infarction in young males. Blood 1999; 33:2186-2190.
10. Prohaska W, Mannebach H, Schmidt M, Gleichmann U, Kleesiek K. Evidence against heterozygous coagulation factor V 1619 G → A mutation with resistance to activated protein C being a risk factor for coronary artery disease and myocardial infarction. J Mol Med 1995; 73:521-524.
11. Donmez Y, Kanadasi M, Tanriverdi K, Demir M, Demirtas M, Cayli M, et al. Prothrombin 20210GA and factor V Leiden mutations in patients less than 55 years old with myocardial infarction. Jpn Heart J 2004; 45:505-512.
12. Baranovskaya S, Kudinov S, Fomicheva E, Vasina V, Solovieva D, Khavinson V, Schwartz E. Age as a risk factor for myocardial infarction in Leiden mutation carriers. Mol Genet Metab 1998; 83:155-157.
13. Kiechl S, Muigg A, Santer P, Mitterer M, Egger G, Oberhollenzer M, et al. Poor response to activated protein C as a prominent risk predictor of advanced atherosclerosis and arterial disease. Circulation 1999; 99:614-619.
14. März W, Seydewitz H, Winkelmann B, Chen M, Nauck M, Witt I. Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary artery disease. Lancet 1995; 345:526-527.
15. Middendorf K, Göhring P, Huehns TY, Seidel D, Steinbeck G, Nikol S. Prevalence of resistance against activated protein C resulting from factor V Leiden is significantly increased in myocardial infarction: Investigation of 507 patients with myocardial infarction. Am Heart J 2004; 147: 897-904.
16. Rosendaal FR, Siscovick DS, Schwartz SM, Beverly RK, Psaty BM, Longstreth WT Jr et al. Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood 1997; 89:2817-2821.
17. Doggen CJ, Cats VM, Bertina RM, Rosendaal FR. Interaction of coagulation defects and cardiovascular risk factors increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. Circulation 1998; 87:1037-1041.
18. De Stefano V, Chiusolo P, Paciaroni K, Leone G. Epidemiology of factor V Leiden: clinical implications. Semin Thromb Hemost 1998; 24:367-379.
19. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346:1133-1134.
20. Ridker PM, Miletich JP, Hennekens CH, Buring JE. Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. JAMA 1997; 277:1305-1307.
21. Gurgey A, Mesci L. The prevalence of factor V Leiden (1691 G → A) mutation in Turkey. Turk J Pediatr 1997; 39:313-315.
22. Ruberg FL, Loscalzo J. Prothrombotic determinants of coronary atherothrombosis. Vasc Med 2002; 7:289-299.
23. Selwyn AP. Prothrombotic and antithrombotic pathways in acute coronary syndromes. Am J Cardiol 2003; 91:3H-11H.
24. French JK, Van de Water NS, Sutton TM, Lund M, Gao W, McDowell J, et al. Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction. Am Heart J 2003; 145:118-124.
25. Van de Water NS, French JK, Lund M, Hyde TA, White HD, Browett PJ. Prevalence of factor V Leiden and prothrombin variant G20210A in patients age < 50 years with no significant stenoses at angiography three to four weeks after myocardial infarction. J Am Coll Cardiol 2000; 36:717-722.
26. Lindblad B, Svensson PJ, Dahlback B. Arterial and venous thromboembolism with fatal outcome and resistance to activated protein C [Letter]. Lancet 1994; 343:917.
27. Holm J, Zöller B, Svensson PJ, Berntorp E, Erhardt L, Dahlbäck B. Myocardial infarction associated with homozygous resistance to activated protein C. Lancet 1994; 344:952-953.
28. Dropinski J, Wegrzyn W, Szczeklik W, Krzanowski M. Myocardial infarction as an initial symptom of antiphospholipid syndrome, factor V Leiden mutation, and hyperhomocysteinemia. Pol Arch Med Wewn 2004; 111:63-67.
29. Menge H, Faig HG, Lang A, Fahrenkrog U, Lollgen H. Homozygous form of factor V Leiden mutation as the cause of a myocardial infarction in patient with an unremarkable coronary vascular system? Dtsch Med Wochenschr 2001; 123:684-686.
30. Agostoni P, Gasparini G, Destro G. Acute myocardial infarction probably caused by paradoxical embolus in a pregnant woman. Heart 2004; 90:e12.
31. Corre O, Gueret G, Guard M, Abgrall JF, Arvieux CC. Coronary thrombosis on patient with the factor V Leiden mutation. Ann Fr Anesth Reanim 2002; 21:440-444.
32. Anand S, Kliber A, Koschinsky ML. Activated protein C resistance and low molecular weight lipoprotein (a): dual pathogens, for atherothrombosis? Thrombosis Res 2004; in press.
33. Ray JG. Meta-analysis of hyperhomocysteinemia as a risk factor for venous thromboembolic disease. Arch Intern Med 1998; 158:2101-2106.
34. Kang S-S, Wong PWK, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991; 48:536-545.
35. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10:110-113.
36. Glueck CJ, Fontaine RN, Gupta A, Alasmi M. Myocardial infarction in a 35-year-old man with homocysteinemia, high plasminogen activator inhibitor activity, and resistance to activated protein C. Metabolism 1997; 46:1470-1472.