Acute Myocardial Infarction in a Young Woman With Heterozygous Polymorphism for Methylenetetrahydrofolate Reductase and Prothrombin Gene Mutation: A case presentation

Öz

Many publications demonstrate a relationship between acute myocardial infarction and genetic mutations. In our case, a 26-yearold young woman was admitted to the hospital with complaints of severe chest pain. She had no risk factors for coronary heart disease but two of her sisters and one of her brothers had suffered sudden cardiac death. DNA samples obtained from peripheral blood were studied by polymerase chain reaction (PCR) and showed mutations in methylenetetrahydrofolate reductase (MTHFR) gene region C677T and heterozygous mutation in prothrombin gene region G20210A.

Anahtar Kelimeler

• Acute coronary syndrome, prothrombin, methylenetetrahydrofolate reductase

Acute Myocardial Infarction in a Young Woman With Heterozygous Polymorphism for Methylenetetrahydrofolate Reductase and Prothrombin Gene Mutation: A case presentation

Öz

Bir çok yayında akut myokardiyal infarktüs ile gen mutasyonları arasında ilişki bildirilmiştir. Bizim olgumuzda 26 yaşında şiddetli göğüs ağrısı nedeniyle başvuran hastaneye yatırılan bir hast sunulmuştur. Hastanın koroner hastalık yönünden hiçbir risk faktörü içermiyordu ve kardeşlerinde ani ölüm hikayesi vardı. Periferik kandan DNA örnekleri alındı ve PCR çalışması ile MTHFR (C677T)ve protrombin (G20210A) gen mutasyonu gösterildi

Anahtar Kelimeler

• Akut koroner sendrom, protrombin, methylenetetrahydrofolate redüktaz

Kaynakça

1. Aire S, Garcia DP, Kajita LJ, Rati AM. Estudo hemodinami- co e cineangiografico. Sociedade de Cardiologia do Estado de Sao Paulo. Cardiologia: atuoalizaçao e reciclagem. Rio de Janeiro: Atheneu; 1994. p. 159-71.
2. Heijer M, Koster T, Blom HJ, Bos GM, Briet E, Reitsma PH, Vandenbroucke JP, Rosendaal FR: Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Eng J Med 1996; 334:759-62.
3. Still RA, McDowell IF. ACP Broadsheet No 152: March 1998. Clinical implications of plasma homocysteine mea- surement in cardiovascular disease. J Clin Pathol 1998; 51:183-8
4. Faria-Neto JR, Chagas ACP, Bydlowski SP, et al. Hyperhomocystinemia in patients with coronary artery disease. Braz J Med Biol Res 2006;39(4 ):455-63.
5. Hankey GJ, Eikelboom JW. Homocysteine and vascular disease. Lancet 1999; 354 (9176): 407-13.
6. McCully KS. Vascular pathology of homocysteinemia: im- plications for the pathogenesis of arteriosclerosis. Am J Pathol. 1969; 56:111-28.
7. Bolander-Gouaille C. Focus on Homocysteine and the Vitamins Involved in Its Metabolism. 2nd ed. Paris, France: Springer-Verlag; 2002,pp: 15.
8. Boushey CJ, Beresford SA, Omenn GS, Motulsky AG: A quantitative assessment of plasma homocystein as a risk factor for vascular disease: probable benefits of increas- ing folic acid intakes. JAMA 1995; 274: 1049-1057.

9. Russo C, Girelli D, Oliveri O, Guarini P, Manzato F, Pizzola F, et al. G20210A prothrombin gene polymorphism and prothrombin activity in subjects with or without an- giographically documented coronary artery disease. Circulation 2001;103:2436-40.
10. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A com- mon genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-703.
11. Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL. A common prothrombin variant ( 20210 G to A ) increases the risk of myocardial infarction in young women. Blood 1997;90:1747-50.