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The myocardial infarction in a young woman with heterozygous MTHRF and PAI-1 gene mutations

Yıl 2010, Cilt: 32 Sayı: 2, 257 - 260, 13.05.2010

Öz

Myocardial infarction in young patient accounts for 6% of all myocardial infarctions. Unlike older patients, the cause of the myocardial infarction in approximately 20% of young patients is not related to atherosclerosis. In this study, we report a case of myocardial infarction at a young woman who do not have classical risk factors for coronary artery disease, however, who was heterozygous for the methylene tetrahydrofolate reductase C677T/G gene mutation and plasminogen activator inhibitor- 1 4G/5G gene variant. Urgent coronary angiography revealed multi-vessel coronary disease, severe stenosis of the proximal left anterior descending artery, total occlusion of the first diagonal artery, and severe stenosis of the proximal circumflex artery.  The lesions were thought to be not suitable for percutaneous revascularization and coronary by-pass surgery was performed. The postoperative course was uneventful and she was discharged on 8th day. In conclusion, coronary artery disease in young patient especially without classical risk factors, we suggest that prothrombotic factors should be evaluated. 

Kaynakça

  • Choudhury L, Marsh JD. Myocardial infarction in young patients. Am J Med 1999; 107: 254-61.
  • Atherosclerosis, Thrombosis, and Vascular Biology Italian Study Group. No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age. Circulation 2003;107: 1117-22.
  • Kim RJ, Becker RC. Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. Am Heart J 2003;146:948-57.
  • Kluijtmans LA, van den Heuvel LP, Boers GH, Frosst P, Stevens EM, van Oost BA, den Heijer M, Trijbels FJ, Rozen R, Blom HJ. Molecular genetic analysis in mild methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996; 58: 35-41. in the
  • Selhub J, D'Angelo A. Relationship between homocysteine and thrombotic disease. Am J Med Sci 1998; 316: 129-41.
  • Tsantes AE, Nikolopoulos GK, Bagos PG, Bonovas S, Kopterides P, Vaiopoulos G. The effect of the plasminogen activator inhibitor-1 4G/5G polymorphism on the thrombotic risk.Thromb Res 2008; 122: 736-42.
  • Legnani C, Palareti G, Grauso F, Sassi S, Grossi G, Piazzi S, Bernardi F, Marchetti G, Ferraresi P, Coccheri S. Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects. Arterioscler Thromb Vasc Biol 1997 ; 17: 2924-9.
  • Yamada Y, Matsuo H, Segawa T, Watanabe S, Kato K, Hibino T, Yokoi K, Ichihara S, Metoki N, Yoshida H, Satoh K, Nozawa Y. Assessment of genetic risk for myocardial infarction. Thromb Haemost 2006; 96: 220-7.

Heterozigot MTHRF ve PAI-1 gen mutasyonlu genç kadın hastada myokardial infarktüs

Yıl 2010, Cilt: 32 Sayı: 2, 257 - 260, 13.05.2010

Öz

Genç hastalarda miyokart enfarktüsü tüm miyokart enfarktüslerinin %6’sını oluşturur. Yaşlı hastalardan farklı olarak genç hastalardaki miyokart enfarktüsünün yaklaşık %20’si aterosklerozla ilişkili değildir. Bu çalışmada, koroner arter hastalığı yönünden klasik risk faktörü bulunmayan ancak heterozigot metilen tetrahidrofolat redüktaz C677T/G ve plazminojen aktivatör inhibitör 1 gen varyasyonuna sahip miyokart enfarktüslü genç bir bayan hastayı sunmaktayız. Hastaya yapılan acil koroner anjiografi çok damarda koroner arter hastalığına işaret etti; sol anterior inen arterde ciddi darlık, birinci diagonal arterde total tıkanma ve proksimal sirkümfleks arterde ciddi daralma vardı. Lezyonların perkütan revaskülarizasyona uygun olmadıkları düşünüldü ve koroner baypas cerrahi uygulandı. Postoperatif dönem sorunsuz geçti ve hasta 8. gün taburcu edildi. Sonuç olarak özellikle klasik risk faktörü bulunmayan genç olgulardaki koroner arter hastalıklarında protrombotik genetik faktörlerin araştırılmasını önermekteyiz

Kaynakça

  • Choudhury L, Marsh JD. Myocardial infarction in young patients. Am J Med 1999; 107: 254-61.
  • Atherosclerosis, Thrombosis, and Vascular Biology Italian Study Group. No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age. Circulation 2003;107: 1117-22.
  • Kim RJ, Becker RC. Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. Am Heart J 2003;146:948-57.
  • Kluijtmans LA, van den Heuvel LP, Boers GH, Frosst P, Stevens EM, van Oost BA, den Heijer M, Trijbels FJ, Rozen R, Blom HJ. Molecular genetic analysis in mild methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996; 58: 35-41. in the
  • Selhub J, D'Angelo A. Relationship between homocysteine and thrombotic disease. Am J Med Sci 1998; 316: 129-41.
  • Tsantes AE, Nikolopoulos GK, Bagos PG, Bonovas S, Kopterides P, Vaiopoulos G. The effect of the plasminogen activator inhibitor-1 4G/5G polymorphism on the thrombotic risk.Thromb Res 2008; 122: 736-42.
  • Legnani C, Palareti G, Grauso F, Sassi S, Grossi G, Piazzi S, Bernardi F, Marchetti G, Ferraresi P, Coccheri S. Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects. Arterioscler Thromb Vasc Biol 1997 ; 17: 2924-9.
  • Yamada Y, Matsuo H, Segawa T, Watanabe S, Kato K, Hibino T, Yokoi K, Ichihara S, Metoki N, Yoshida H, Satoh K, Nozawa Y. Assessment of genetic risk for myocardial infarction. Thromb Haemost 2006; 96: 220-7.
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Olgu Sunumları
Yazarlar

Nurkay Katrancioğlu

Şinasi Manduz

Oğuz Karahan

Ahmet Kılıç

Öcal Berkan

Yayımlanma Tarihi 13 Mayıs 2010
Yayımlandığı Sayı Yıl 2010Cilt: 32 Sayı: 2

Kaynak Göster

AMA Katrancioğlu N, Manduz Ş, Karahan O, Kılıç A, Berkan Ö. The myocardial infarction in a young woman with heterozygous MTHRF and PAI-1 gene mutations. CMJ. Haziran 2010;32(2):257-260.