Yeni ve Nadir Mutasyonlu FMF Hastalarında Kardiyak Tutulum

Yıl 2019, Cilt: 11 Sayı: 2, 274 - 277, 28.06.2019

İbrahim Halil Damar Recep Eröz

https://doi.org/10.18521/ktd.445549

Öz

Cardiac Involvement in FMF Patients with New and Rare Mutations

Öz

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

 

Anahtar Kelimeler

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

Kaynakça

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