Mahmut GÜNEŞ, Muhammed Bora DEMİRCELİK, Özgül GÜREL MALÇOK, Beyhan ERYONUCU

Recurrent acute coronary syndromes with normal homocystein level: A mutation of mthfr gene

Yirmi dokuz yaşında bayan hasta sıkıştırıcı retrosternal göğüs ağrısı ile acil servisimize başvurdu. Hastanın ağrısı uyku boyunca, 15 gün önce başlamış ve artıp azalan karakterde, son 2 gündür yoğun şekilde idi. Hastanın öyküsünde son 4 yılda, iki kez aynı yakınmalar ile hastaneye başvurduğu, troponin yüksekliği olması üzerine yatırılıp koroner anjiografi yapıldığı ve koroner arterlerin tamamen normal saptandığı öğrenildi. Tekrarlayan akut koroner sendromu olan bayanda MTHFR gen mutasyonu saptandı. Koroner anjiografinin normal saptanması üzerine, myokardiyal infarktüs lokalizasyonunu kardiyak manyetik rezonans görüntüleme ile gösterdik. Olgumuzda MTHFR1298 gen mutasyonu dışında herhangi bir koroner risk faktörü saptamadık. MTHFR gen mutasyonunun tek başına hiperkoagülopatiye neden olabileceğini gösterdik.

Normal homosistein düzeyi ile beraber rekürren akut koroner sendromlar: Nadir bir mthfr gen mutasyonu

A 29-year-old female patient, complaining of squeezing retrosternal chest pain, was admitted to our emergency department. Her angina pectoris had started fifteen days ago and accentuated during the last two days. In her medical history, it was determined that during the last four years she had been admitted to hospitals with the same complaint twice, troponins were found to be elevated, she was hospitalized and coronary angiography (CAG) was totally normal. The young woman with recurrent acute coronary syndrome had a mutation in the MTHFR gene. On the determination of normal coronary arteries, we have demonstrated the localization of myocardial infarction via magnetic resonance imaging. In our case we have found no other risk factors except MTHFR 1298 gene mutation for coronary artery disease. MTHFR 1298 gene mutation may cause this state of hypercoagulopathy.

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