Yeni ve Nadir Mutasyonlu FMF Hastalarında Kardiyak Tutulum

Abstract

Cardiac Involvement in FMF Patients with New and Rare Mutations

Abstract

Özet

FMF ateş ve artritin eşlik ettiği periton, plevra ve perikard gibi seröz zarların inflamasyonu ile karakterize olan otoinflamatuvar bir rahatsızlıktır. FMF ve kardiyovasküler risk arasındaki ilişkinin açıklanması artan mortalite ve morbitite riskinin azaltılması açısından önem arzetmektedir. Biz göğüs ağrısı şikayetiyle kardiyoloji polikliniğine başvuran, ayrıntılı inceleme sonucunda da yeni ve nadir mutasyon taşıyıcısı olan FMF’li hastaları kardiyovasküler risk açısından değerlendirdik. Yalnız K447M mutasyon taşıyıcılı FMF hastaları kardiyovasküler açıdan bir risk taşımazken, M6694V ve R202Q bileşik mutasyon taşıyıcısı olan FMF’li hastalar kardiyovasküler açıdan risk taşımaktadır. Buna ilaveten 761_764dupCCGC duplikasyon mutasyonu taşıyıcılı FMF hastaları yaşamın erken dönemlerinde artmış kardiyovasküler riske sahipti. Bu nedenle kardiyo vasküler risk açısından mutasyon taşıyıcılı olan FMF hastalarının düzenli takipleri önem arzetmektedir.

Anahtar Kelimeler: FMF, Kardiyak problem, K447M, 761_764dupCCGC, MEFV geni, FMF hastalarının kardiak değerlendirilmesi

 

 

 

 

 

 

 

 

Abstract

FMF is an autoinflammatory disorder characterized by inflammation of the serous membranes, such as peritoneum, pleura and pericardium, accompanied by fever and arthritis. Explanation of the relationship between FMF and cardiovascular risk is important for reducing the increasing mortality and morbidity risk. We evaluated patients with FMF who were previously referred to the cardiology polyclinic with the complaint of chest pain and carriers of a new and rare mutation for cardiovascular risk. While the cases FMF with only K447M mutation carriers have no cardiovascular risk, the FMF cases with M6694V and R202Q compound mutation have cardiovascular risk. In addition, the FMF cases with 761_764dupCCGC duplication mutations had an increased cardiovascular risk in the early stages of life. Therefore it is important that regular follow-up of FMF patients with mutation carriers in terms of cardiovascular risk is important.

Key Words: FMF, Cardiac problem, K447M, 761_764dupCCGC, MEFV gene, Cardiac assessment of FMF cases

 

Keywords

• FMF,Kardiyak problem,K447M,761_764dupCCGC,MEFV geni

References

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