Yeni ve Nadir Mutasyonlu FMF Hastalarında Kardiyak Tutulum

Year 2019, Volume: 11 Issue: 2, 274 - 277, 28.06.2019

İbrahim Halil Damar Recep Eröz

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

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

• 1. Gershoni-Baruch R, Shinawi M, Leah K, et al. Familial Mediterranean fever: prevalence, penetrance and genetic drift. Eur J Hum Genet 2001;(9):634-637.2. Tunca M, Akar S, Onen F, et al. Turkish FMF Study Group. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 2005;84(1):1-11.3. Eroz R, Dogan M, Kocabay K. A Novel Mutation K447M (P.LYS447MET, C.1340 A>T) Identified in exon 4 of the MEFV gene. Genetic counseling 2016;(27):525-528. 4. Ben-Chetrit E, Touitou I. Familial mediterranean fever in the world. Arthritis Rheum. 2009;(61):1447–1453.5. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;(7):1317–25.6. Alsarah A, Alsara O, Laird-Fick HS. Cardiac manifestations of Familial Mediterranean fever. Avicenna J Med 2017;(7):158-163. doi: 10.4103/ajm.AJM_78_17.7- Lang RM, Bierig M, Devereux RB, et al. American Society of Echocardiography's Nomenclature and Standards Committee; Task Force on Chamber Quantification; American College of Cardiology Echocardiography Committee; American Heart Association; European Association of Echocardiography, European Society of Cardiology. Recommendations for chamber quantification. Eur J Echocardiogr 2006;(7):79-108.8-Eroz R, Dogan M, Kocabay K. A Novel Mutation K447M (P.LYS447MET, C.1340 A>T) Identified In Exon 4 of the MEFV Gene. Genetic Counseling 2016;(27):525-528.9-Eroz R, Dogan M, Yuce H, et al. A Family From Turkey With 761_764dupCCGC p.Asn256Argfs70,c.761_764dupCCGC MEFV Gene Mutation, Their Clinical Features and Review of The Literature. Konuralp Tıp Dergisi 2016;8(3): 214-217.10. Shohat M, Halpern GJ. Familial Mediterranean fever—a review. Genet Med 2011;(13):487–498 doi:10.1097/GIM.0b013e3182060456.11-Salah S, Hegazy R, Ammar R, et al. MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: A cohort study. Pediatr Rheumatol Online J. 2014;12:5.12- Sargsyan A, Narimanyan M. Pulmonary hypertension in familial Mediterranean fever: Consequence or coincidence? Pediatr Rheumatol Online J. 2015;13(Suppl 1):O41.