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

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

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

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.

Keywords:

Acute coronary syndrome, prothrombin, methylenetetrahydrofolate reductase,

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