Familial Mediterranean fever attacks do not alter functional and morphologic tissue Doppler echocardiographic parameters.
ABSTRACT The aim of this study is to investigate the tissue Doppler echocardiographic (TDE) characteristics of acute familial Mediterranean fever (FMF) attack on young Turkish males. Thirty-four young males with FMF were investigated utilizing echocardiography both before and after FMF attacks. Echocardiographic findings were assessed by two cardiologist utilizing Vingmed system V echocardiography machine and a 2.5 MHz probe by two-dimensional and color Doppler examination, as well as tissue Doppler parameters. The incidence of pericardial effusion was found to be 23.3% during acute FMF attack. There was no significant difference between the patients in attack-free period and attack period with respect to TDE measurements. TDE measurements did not differ between the patients with and without pericardial effusion. There was no correlation between pericardial effusion and disease duration, family history, and physical findings. In conclusion, our results suggest preserved systolic and diastolic ventricular functions in attack period. Pericardial effusion is not associated with impaired TDE parameters.
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ABSTRACT: Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder in the world. It is characterized by recurrent febrile inflammatory attacks of serosal and synovial membranes. MEFV gene mutations are responsible for the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. Although the disease may carry a potential for cardiovascular disorders because of sustained inflammation during its course, the spectrum of cardiac involvement in children with FMF has not been well studied. We aimed at defining the frequency and spectrum of cardiac affection in children with FMF. The correlation between these affections and MEFV gene mutations was searched for to establish the relationship between cardiac phenotype and the patient's genotype in FMF. The present work is a cohort study including 55 patients with the clinical diagnosis of FMF based on the Tel-Hashomere criteria, confirmed by genetic analysis showing homozygous or compound heterozygous mutation of MEFV genes. Fifty age- and sex-matched normal children were included as controls. The entire study group underwent detailed cardiac examination, 12-lead ECG and echocardiography. All data was statistically analysed using SPSS version-15. Patients had an average age of 8.5+/-4.2 years; with an average disease duration of 2.1+/-2.2 years; 28 were males. All controls showed no MEVF gene mutations. The most frequent gene mutation of the studied cases was E148Q mutation seen in 34% of cases and the most frequent compound mutation was E148Q/V726A seen in 16.6% of cases. Echocardiographic examination revealed pericardial effusion in nine patients. Twelve had aortic regurgitation; nine had mitral regurgitation and six had pulmonary regurgitation. The most common mutation associated with pericardial effusion was E148Q/V726A in 5/9 of cases. Valvular involvement were significantly more common in FMF patients with gene mutations. Also cardiac involvement was more common in patients with positive consanguinity. However, these cardiac manifestations showed no correlation to age, family history of FMF, or response to therapy or laboratory data. In our cohort of children with FMF, cardiac involvement appears to be common. Pericardial effusions are significantly related to presence of mutation types E48Q, P 369S, V726A. These associations may warrant genetic screening of children with FMF to detect cardiac risk.Pediatric Rheumatology 01/2014; 12(1):5. · 1.47 Impact Factor
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ABSTRACT: The aim of this study was to determine the rate of MEFV gene mutations, the gene responsible for familial Mediterranean fever (FMF), in patients with hematolymphoid neoplasm. The rate of the five most common MEFV gene mutations (M694V, M680I, V726A, M694I and E148Q) was determined in 46 patients with hematolymphoid neoplasm. We found a high frequency of carriers in patients with multiple myeloma (60%) and acute lymphocytic leukaemia (33.3%), whereas patients with chronic lymphocytic leukaemia (9%) and non-Hodgkin lymphoma (5%) had a low mutation carrier rate. There is no MEFV gene mutation in patients with Hodgkin lymphoma. Furthermore, the statistically significant predominance of strong heterozygous mutations such as M694V and M680I in patients with hematolymphoid neoplasm; none had own and/or family history compatible with FMF, is interesting. In conclusion, we found a high frequency of carriers for MEFV gene in patients with multiple myeloma and acute lymphocytic leukaemia. The data of our study may provide some new insights in understanding of individual genetic differences in susceptibility to these neoplasms.International Journal of Immunogenetics 10/2010; 37(5):387-91. · 1.36 Impact Factor
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ABSTRACT: Familial Mediterranean fever is an autosomal recessive disease occurring in populations originating from the Mediterranean basin. This autoinflammatory syndrome is caused by mutations in the Mediterranean FeVer (MEFV) gene. MEFV encodes a 781 amino acid protein known as pyrin. Pyrin is an important modulator of apoptosis, inflammation, and cytokine processing. In more recent pilot studies, inherited variant analysis of the MEFV gene in patients with hematologic neoplasm showed an unexpectedly high frequency of these variants in the gene. Here, we summarize the current state of knowledge of the relationship between inherited variants in the MEFV gene and hematologic neoplasms. Although no single underlying defect could be targeted in all hematologic neoplasms, it will be important to fully exploit the mechanisms underlying the neoplasm promoting role of inherited variants in MEFV. However, it is unclear how inherited variants in the MEFV gene are associated with tumor susceptibility or promotion in hematologic neoplasms. Further investigations are needed to determine the actual role of the MEFV gene in pathogenesis of these neoplasms.International journal of hematology 03/2012; 95(4):380-5. · 1.17 Impact Factor