One-Year Follow-Up Results of MIS-C Patients with Coronary Artery Involvement: A Multi-center Study.

Multisystem inflammatory syndrome (MIS-C) in children is a rare complication of SARS-CoV-2 infection. Knowing the course of the affected or unaffected coronary arteries in the patients under follow-up is important in terms of defining the long-term prognosis of the disease and determining the follow-up plan. This is a multicenter and retrospective study. The data were obtained from nine different centers. Between May 2020 and August 2022, 68 of 790 patients had coronary artery involvement. One-year echocardiographic data of 67 of 789 MIS-C patients with coronary artery involvement were analyzed. Existing pathologies of the coronary arteries were grouped as increased echogenicity, dilatation and aneurysm according to Z scores, and their changes over a 1-year period were determined. The data of all three groups are defined as frequency. SPSS Statistics version 22 was used to evaluate the data. In our study, aneurysm was observed in 16.4%, dilatation in 68.7% and increased echogenicity in 13.4% of the patients. All of the patients with involvement in the form of increased echogenicity recovered without sequelae by the end of the first month. No progression to aneurysm was observed in any of the patients with dilatation. No new-onset involvement was observed in patients with previously healthy coronary arteries during the convalescent period. In addition, from the sixth month follow-up period, there was no worsening in the amount of dilatation in any of the patients. At least 94% of the patients who completed the 12th month control period returned to normal.

Evaluation of Children with Acute Rheumatic Fever: A Single-Center Experience.

OBJECTIVE: The epidemiological characteristics, risk factors, complications, recurrence status, clinical and laboratory features, and treatment methods of the patients who admitted to our Pediatric Cardiology Outpatient Clinic with a pre-diagnosis of acute rheumatic fever (ARF) were evaluated. MATERIALS AND METHODS: The data of 166 patients who admitted with a pre-diagnosis of ARF and were diagnosed with ARF, and the data of 51 patients who were not diagnosed with ARF, were retrospectively analyzed. RESULTS: The patients with ARF were between the ages of 5 and 18. Most of the patients with ARF attack admitted in December (15.6%), January (13.8%), and February (13.2%). The most common complaints of the patients diagnosed with ARF were isolated joint pain and/or swelling, at 50.6%. While 91.5% of the patients were diagnosed for the first time, 8.5% had ARF recurrence. It was seen that the most common major criterion was carditis (94.6%). The severity of valve regurgitation and the rates of monoarthritis were significantly higher in patients with recurrence (P < .05). Non-compliance with prophylaxis was observed in 10 (71.4%) of 14 patients with recurrence, and in 43 (28.2%) of 152 patients without recurrence. Anti-streptolysin O was lower (P = .021) and alanine transaminase (ALT) was higher (P = .019) in the recurrence group. CONCLUSION: Our study showed that in patients with a pre-diagnosis of ARF, a differential diagnosis should be made with other diseases. Especially in patients with joint complaints as the only major symptom, a differential diagnosis should be made. ARF recurrence is associated with non-compliance with prophylaxis, and both the severity of valve regurgitation and monoarthritis rates are higher in patients who develop recurrence. Alanine aminotransferase is significantly higher in patients with ARF recurrence.

A paediatric case of myopericarditis post-COVID-19 mRNA vaccine.

Myopericarditis is a condition, which primarily involves the pericardium, with minimal myocardial involvement. In myopericarditis, chest pain, elevated cardiac enzymes, and electrocardiographic changes occur. Although COVID-19 mRNA vaccines significantly contribute to preventing the COVID-19 disease, rarely myocarditis and/or pericarditis may develop due to these vaccines. We present a previously healthy 14-year-old male patient who developed myopericarditis after receiving the second dose of the COVID-19 mRNA vaccine.

Electrocardiographic data of children with type 1 diabetes mellitus.

BACKGROUND: Adult patients diagnosed with type 1 diabetes mellitus are at risk for ventricular arrhythmias and sudden cardiac death. AIM: The objective of our study is to evaluate the electrocardiographic data of children diagnosed with type 1 diabetes mellitus and to determine the possibility of arrhythmia in order to prevent sudden death. METHODS: Electrocardiographic data of 60 patients diagnosed with type 1 diabetes mellitus and 86 controls, who were compatible with the patient group in terms of age and gender, were compared. RESULTS: The duration of diabetes in our patients with type 1 diabetes mellitus was 5.23 ± 1.76 years, and the haemoglobin A1c levels were 9.63% ± 1.75%. The heart rate, QRS, QT maximum, QT dispersion, QTc minimum, QTc maximum, QTc dispersion, Tp-e maximum, Tp-e maximum/QTc maximum and the JTc were significantly higher compared to the control group. There was no significant correlation between the duration of type 1 diabetes mellitus and HbA1c levels and the electrocardiographic data. CONCLUSION: We attributed the lack of a significant correlation between the duration of type 1 diabetes mellitus and the haemoglobin A1c levels and the electrocardiographic data to the fact that the duration of diabetes was short, since our patients were children. We believe that patients with type 1 diabetes mellitus should be followed up closely in terms of sudden death, as they have electrocardiographic changes that may cause arrhythmias compared to the control group. However, more studies with longer follow-up periods are necessary to support our data.

Percutaneous Closure of Atrial Septal Defects with the MemoPart Atrial Septal Occluder: The Early-Term Results of a Multicenter Study.

Atrial septal defect (ASD) is a common congenital heart disease with left-to-right shunt that may lead to pulmonary hypertension over time. Secundum ASD closure with transcatheter technique is currently the preferred method. The aim of this study was to evaluate the clinical experience and early-term outcomes of patients treated with a MemoPart ASD occluder device between June 2013 and June 2019. Fifty-six patients (35 females) with a mean age of 9.4 ± 6.6 years (range: 2-44 years) were included in the study. The diameters of the devices used to close the ASDs were 7-28 mm. The ratio of the device/defect diameter was 1.14:1. Atrial septal defect closure was applied successfully in all patients. The MemoPart septal occluder is a safe and effective device for ASD closure. In wide ASDs and cases with more than one deficient rim, weak rims, or wide and complicated cases, it can be used carefully with sufficient experience.

A child case of Kawasaki with giant coronary aneurysm: percutaneous coronary intervention due to anterior myocardial infarction.

Kawasaki disease is usually self-limited, but it can lead to aneurysm, stenosis, thrombosis, and myocardial infarction in the coronary arteries. The most important complication of Kawasaki disease is coronary artery aneurysm. Coronary artery aneurysm or ectasia may be seen in 15-25% of patients who do not receive treatment. It develops in 5% of children who receive intravenous immunoglobulin at the appropriate time. Acute myocardial infarction is the most important cause of morbidity and mortality in Kawasaki patients with giant aneurysms. We present a 10-year-old girl who had a history of giant aneurysm in the coronary arteries and underwent percutaneous coronary intervention due to anterior myocardial infarction.

Multisystem inflammatory syndrome in children: A single-center experience.

BACKGROUND: This case series aims to evaluate the presenting symptoms, laboratory data, systemic findings, and response to early treatment in patients who were followed up with the diagnosis of multisystemic inflammatory syndrome associated with novel coronavirus disease 2019 (COVID-19). METHODS: The presentation, laboratory findings, and responses to treatment of patients hospitalized and diagnosed with multisystemic inflammatory syndrome were evaluated retrospectively. RESULTS: A total of 32 patients were included in the study. The median age was 90 (1.5-204) months and 62.5% of the patients were male; 59.4% of the cases were non-specific disease, 31.2% typical (complete) Kawasaki, and 9.4% had phenotypic characteristics of atypical (incomplete) Kawasaki. Most of the patients were found to have low albumin and elevated C-reactive protein, sedimentation rate, and d-dimer, and all patients had elevated N-terminal pro-B-type natriuretic peptide, and procalcitonin. Lymphopenia was detected in 25 patients (78.1%) and serum ferritin levels were elevated in 25 patients (78.1%). Eleven (34.4%) patients responded well only to intravenous immunoglobulin treatment. Twenty patients (62.5%) received intravenous immunoglobulin and steroid therapy (second-line therapy). Only one patient (3.1%) received third-line therapy (intravenous immunoglobulin + steroid +anakinra + plasmapheresis). None of the patients died. CONCLUSIONS: Most patients had mild clinical symptoms and responded well to intravenous immunoglobulin and / or steroid therapies as first- and second-line therapies. Only one of our patients was clinically stabilized after third-line treatment because he did not respond to intravenous immunoglobulin and steroid therapy. We think that all of our patients diagnosed with multisystem inflammatory syndrome in children recovered because we had recommended quickly medical intervention. Treatment should therefore be started immediately in patients diagnosed with multisystem inflammatory syndrome in children. If there is no response after 24 h to the initial treatment, the next treatment protocol should be started.

The association between electrocardiographic data and obesity in children and adolescents.

BACKGROUND: There are not enough studies investigating the relationship between obesity and ECG abnormalities in children and adolescents. This study aims to investigate the relationship between obesity and electrocardiographic data in children and adolescents for early diagnosis to prevent arrhythmia or sudden death in later stages of life. PATIENTS AND METHODS: A total of 65 children and adolescents with obesity applied to our pediatric endocrinology outpatient clinic with nonspecific complaints and without any known chronic illnesses; 76 healthy children and adolescents were included in the study. Anthropometric and laboratory data, blood pressure measurements, and 12-lead electrocardiography data of all participants were collected. RESULTS: There was a statistically significant difference between the obese and the control group in terms of triglycerides, total cholesterol, high density lipoprotein, low density lipoprotein levels, and systolic blood pressure. According to electrocardiographic findings, there was a statistically significant difference between the two groups in terms of heart rate (p=0.008), PR duration (p<0.001), left ventricular hypertrophy (p=0.02), P maximum (p=0.04), P dispersion (p<0.001), QRS duration (p<0.001), QT minimum (p=0.007), QT maximum (p=0.03), QT dispersion (p=0.024), QTc minimum (p=0.002), QTc dispersion (p=0.003), Tp-e minimum (p=0.007), and Tpe maximum (p=0.003) variables. CONCLUSIONS: There were significant differences between the electrocardiographic evaluation of obese group compared to the control group in our study, which may be associated with risk of cardiac arrhythmia. These differences require monitorization in terms of cardiac arrhythmia and risk of sudden death. Further studies with longer follow-up time are needed to support the potential clinical outcomes of our findings.

Twin pregnancy in which both fetuses have Cantrell's pentalogy: A case report and literature review.

Cantrell's pentalogy is a congenital multiple malformation consisting of midline supraumbilical thoraco-abdominal wall defects, anterior and pericardial diaphragm defects, lower sternum defects, ectopia cordis and various intracardiac anomalies. Complete pentalogy is very rare. Some additional anomalies may accompany pentalogy and there are cases in the literature where chromosomal anomalies and pentalogy are seen. Cases of Cantrell's pentalogy in twin pregnancies are rare. Twin pregnancies with Cantrell's pentalogy in both fetuses are one of the rarest cases in the literature. In this study, we presented a twin pregnancy case with Cantrell's pentalogy in both fetuses and we reviewed twin pregnancy cases in which Cantrell's pentalogy was seen in the literature. In our case, anomalies were found in both fetuses in the evaluation performed on a 32-year-old, gravida 2, para 1 woman with 10 weeks + 5 days monochorionic-monoamniotic twin pregnancy. The first fetus had ectopia cordis, cystic hygroma and increased nuchal thickness (4.6 mm), and the anterior abdominal wall was in contact with the amniotic band. The second fetus had ectopia cordis omphalocele, cystic hygroma, holoprosencephaly and a single lower extremity deficiency. Both fetuses were pre-diagnosed with Cantrell's pentalogy and the parents were informed about the adverse course of the fetuses. After the completion of the legal procedures, with the approval and decision of the parents, termination was made in the 11th week of pregnancy. External images of the fetuses confirmed the diagnosis. The family denied the autopsy procedure. When we review the literature, twin pregnancies complicated by Cantrell's pentalogy are divided into 3 groups: Group1- cases where one of the twins has completely normal phenotype and the other twin has Cantrell's pentalogy; Group2- cases where one of the twins has Cantrell's pentalogy and the other twin does not have the Cantrell's pentalogy but has several anomalies; Group3- cases where both fetuses have Cantrell's pentalogy. In conclusion, early diagnosis of twin pregnancy cases complicated by Cantrell's pentalogy and determination of all anomalies in both fetuses are very important in terms of obstetric management.

Left and right ventricular functions may be impaired in children diagnosed with subclinical hypothyroidism.

Subclinical hypothyroidism (SH) may influence both ventricular functions. The aim of this study was to evaluation the findings of Tissue Doppler Imaging (TDI) and other echocardiography modalities in children with SH. We compared left ventricular mass index (LVMI) and TDI parameters of patients with SH and children with euthyroidism. Subclinical hypothyroidism was diagnosed when thyroid stimulating hormone level was higher than the reference value of the laboratory (> 4.2 mIU/L) and free thyroxine level was in normal range. The study included a group of 35 patients with SH and a control group of 38 children with euthyroidism (mean age was 7.6 ± 3.5 years and 9.0 ± 2.4 years, respectively). LVMI was significantly higher in the patient group (p = 0.005). TDI parameters including mitral septal ejection time was lower (p = 0.003) and mitral septal myocardial performance index was higher (p = 0.009) in the patient group. Right ventricular TDI revealed that tricuspid lateral E/Ea and tricuspid septal E/Ea were higher (p = 0.015 and p = 0.024, respectively) and tricuspid septal Ea/Aa and ejection time were lower (p = 0.018 and p = 0.017, respectively) in the patient group. SH may lead to increase LVMI. Left ventricular systolic and diastolic TDI parameters (lower mitral septal ejection time, higher mitral septal myocardial performance index) as well as right ventricular systolic (lower tricuspid septal ejection time) and diastolic (higher tricuspid septal and lateral E/Ea, lower tricuspid septal Ea/Ea) functions may be also impaired in children with subclinical hypothyroidism. TDI is a useful method used for the assessment of the effect of SH on cardiac functions.

Diastolic dysfunction in patients with brucellosis despite the absence of infective endocarditis.

BACKGROUND: Brucellosis is an important systemic infectious disease, especially in developing countries. Every organ and system of the human body can be affected; however, cardiovascular complications of brucellosis are rare. AIM: To assess cardiac functions in patients with acute brucellosis without overt cardiac involvement and to answer the following question: Is there any cardiac dysfunction despite the absence of endocarditis in these patients? METHODS: This cross-sectional study included 67 children with brucellosis and 40 healthy children. We performed a detailed echocardiographic examination in individuals at the beginning of the treatment. Patients with infective endocarditis were excluded from the study. RESULTS: Echocardiography revealed no difference of ejection fraction, mitral and tricuspid annular plane systolic excursion, pulsed-wave Doppler-derived early diastolic peak velocity (E)/late diastolic peak velocity (A) ratios in mitral and tricuspid valves between the two groups. The deceleration time of early mitral inflow was longer in patients with brucellosis. Early diastolic peak velocity of the mitral and tricuspid annuluses obtained by tissue Doppler imaging (Ea) was significantly lower in children with brucellosis. The peak velocity obtained by tissue Doppler imaging during late diastole (Aa), Ea and Ea/Aa ratios in the interventricular septum, left ventricle posterior wall and right ventricle free wall was lower in patients with brucellosis than in the control group. The E/Ea ratio, isovolumic relaxation time, right ventricle and left ventricle myocardial performance indices were higher in patients with brucellosis. CONCLUSION: Patients with acute brucellosis may have diastolic dysfunction without overt cardiac involvement and infective endocarditis.

The relationship between electrocardiographic data and mortality in children diagnosed with dilated cardiomyopathy.

The mortality causes of patients followed up due to dilated cardiomyopathy (DCM) include complications related to heart failure, ventricular arrhythmia, and transplantation. This study aims to evaluate the electrocardiographic findings of patients diagnosed with dilated cardiomyopathy and determine its relationship with mortality. The electrocardiographic, clinical, and laboratory findings of patients diagnosed with dilated cardiomyopathy between January 1, 2012, and September 1, 2018, in our university's pediatric cardiology department were retrospectively evaluated. The electrocardiographic findings of surviving and exitus dilated cardiomyopathy patients were compared and their effect on mortality was investigated. Twelve of the total 85 patients diagnosed with dilated cardiomyopathy were deceased. According to the electrocardiographic findings of surviving and exitus patients, there was a statistically significant difference in terms of P maximum (Pmax), P dispersion (Pdis), QT dispersion (QTdis), QTc maximum (QTcmax), QTc dispersion (QTcdis), Tp-e maximum (Tp-emax), Tp-e dispersion (Tp-edis), and QRS time. Hypertrophy and ischemia findings of electrocardiography were also statistically significant. There was a statistically significant difference between the two groups according to the echocardiographic findings of left ventricular ejection fraction (LVEF), left ventricular shortening fraction (LVSF), left ventricular end-diastolic diameter (LVEDd), and left ventricular end-systolic diameter (LVESd) measurements. It is well known that children diagnosed with dilated cardiomyopathy are at greater risk of arrhythmia compared with normal children. Although previous studies have determined the relationship between mortality and a limited number of electrocardiographic findings, especially in adults, the relationship between electrocardiography findings of children diagnosed with DCM and mortality has not been investigated before in such detail, as in our study.Conclusion: In this study, the significant difference between the electrocardiographic data of deceased and surviving dilated cardiomyopathy patients suggests that electrocardiographic data should be evaluated in detail in order to determine the low and high risk of mortality in patients with dilated cardiomyopathy.What is Known:• Previous studies on the relationship between limited electrocardiography data of adult patients diagnosed with DCM and mortality have been determinedWhat is New:• ECG data has not been investigated in such detail in child DCM patients, as in our study.

Prolonged QT dispersion is associated with pediatric syncope.

Bilici M, Fidanci-Dedeoglu Z, Demir F, Akin A, Türe M, Balik H, Tan I, Ertugrul S. Prolonged QT dispersion is associated with pediatric syncope. Turk J Pediatr 2019; 61: 85-91. We aimed to find out whether QT dispersion can be used as a diagnostic marker in terms of syncope type, and recurrence risk. Fifty-two patients (28 male, 53.8%) admitted to the pediatric cardiology clinic with syncope were compared with 50 healthy controls (28 male, 56%; mean age: 13.8±2.3 years, range: 11-17 years) for QT dispersion (QTd) and other electrocardiographic findings. Gender, age, echocardiography, blood pressure while standing and sitting, electrolyte levels, liver and kidney function tests, and QTd and QTcd (calculated with corrected QT: QTc) in electrocardiography (ECG) of patients were all evaluated. Patients` ages varied between 7-17 years and the mean age at first syncope was 13.9±2.4 years. Mean follow-up duration of the patients was 10±5 months (range: 5-18 months). Mean number of syncope attacks was 2.8±2.2. QTd (72±46 ms vs. 34±14 ms) and QTcd (77±45 ms vs. 33±14 ms) values of the patients were significantly longer, compared to control group (p < 0.001). The age, gender, QTd, and QTcd values did not differ between the subtypes of syncope based on pathogenetic mechanism. Additionally, these parameters did not differ in terms of the number of syncope recurrence and tilt test. Patients` complaints reduced after cardiologic evaluation and advice regarding prevention of syncope. We think that in follow-up period, education and preventive precautions that can be taken in the daily life must be emphasized, and drug treatment can be started in unresponsive cases.

Factors affecting mortality in children with dilated cardiomyopathy.

Sabaz MN, Akin A, Bilici M, Demir F, Türe M, Balik H. Factors affecting mortality in children with dilated cardiomyopathy. Turk J Pediatr 2019; 61: 485-492. Dilated cardiomyopathy (DCMP) is a heart disease with high mortality rates that is often seen in children. Genetic and infectious reasons are primary in the etiology. The aim of this study was to investigate the etiology of DCMP and the parameters predicting mortality. A retrospective examination was made of 37 patients diagnosed with DCMP between January 2012 and October 2016. Data were recorded from the patient files of age, gender, complaints on presentation, findings of the physical examination, laboratory test results, echocardiography and electrocardiography findings at the time of diagnosis. These parameters were then compared between the surviving and nonsurviving patients. The patients comprised 21 males with a mean age of 27.50±50 months. Diagnosis was made at the age of < 12 months in 67.6% patients. Within mean 8 months of diagnosis, 16.2% of the patients were lost to mortality and 83.8% of the patients survived. In 83.3% of the non-surviving patients and in 29% of the surviving patients, sinus tachycardia was present at the time of diagnosis (p=0.023). Corrected QT (QTc) at the time of diagnosis was longer in the non-surviving patients (p=0.007). On ECG, the rate of ST-T wave change was higher in the non-surviving patients (80% vs. 17.8%, p=0.012). In conclusion, a significant proportion of the patients were diagnosed below the age of one year. In the non-surviving patients, as sinus tachycardia and ischaemic changes on ECG were seen more often and the QTc was longer, these findings could be considered to be predictors of mortality.

Complete atrioventricular block associated with clozapine intoxication: case report.

Türe M, Bilici M, Akin A, Demir F, Balik H, Darakçi SM. Complete atrioventricular block associated with clozapine intoxication: case report. Turk J Pediatr 2019; 61: 618-621. Clozapine is one of the atypical anti-psychotic drugs used in the treatment of resistant schizophrenia. Although cardiac side-effects are rare, it has been reported that there may be development of myocarditis, dilated cardiomyopathy, postural orthostatic hypotension and prolonged QT duration. Complete atrioventricular (AV) block is characterized by the inability to transmit all of the atrial signal to the ventricles. Causes may be congenital, idiopathic or acquired which are associated with surgery, infection, or muscle disease. AV block is extremely serious and permanent pacemaker insertion is usually necessary for all patients. Complete AV block may develop due to clozapine intoxication through increase in vagal tonus, sinoatrial node (SN) and the inhibition of atrioventricular node signalling. The case presented here is of a 15-year old female patient who developed AV total cardiac block associated with the taking of clozapine in a suicide attempt.

Evaluation of QT dispersion and Tp-e interval in children with subclinical hypothyroidism.

BACKGROUND: Studies on adults have shown increased dispersion of QT and corrected QT (QTc), peak-to-end interval of the T wave (Tp-e), Tp-e/QT ratio, and Tp-e/QTc ratio in subclinical hypothyroidism (SH), but there have been no pediatric studies. MATERIALS AND METHODS: A total of 40 SH patients were compared with 40 healthy children in respect to serum thyroid-stimulating hormone (TSH), serum-free level of triiodothyronine, and free level of thyroxine (fT4). SH diagnosis was accepted as TSH above the laboratory accepted upper limit (>4.2 mU/L) and normal fT4 values. The patient and control group data were compared by calculating the QT interval, QTc, QT dispersion (QTd), QTc dispersion (QTcd), Tp-e, Tp-e/QT ratio, and Tp-e/QTc ratio on 12-lead surface electrocardiogram. RESULTS: The mean age was 7.91 ± 3.6 years in the SH group and 8.8 ± 2.4 years in the control group. In the SH group, the minimum QT (QTmin) was determined to be statistically significantly lower (P < 0.001) and maximum QT (QTmax), QTd, QTcd, Tp-e, Tp-e/QT ratio, and Tp-e/QTc ratio were statistically significantly higher (P = 0.028, P < 0.001, P = 0.003, P < 0.001, P = 0.001, P < 0.001, respectively). A positive correlation was determined between TSH and QTmax (r: +0.331, P = 0.037). CONCLUSIONS: The current study is the first to have shown significantly increased QTd, QTcd, Tp-e, Tp-e/QT ratio, and Tp-e/QTc ratio in children diagnosed with SH. A positive correlation was determined between TSH and maximum QT values, Tp-e, Tp-e/QT ratio, and Tp-e/QTc ratio. These results suggest the need to further assess the long-term risks of prolonged QT dispersion in the setting of subclinical hypothyroidism.

Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever / Investigação de polimorfismos no gene MEFV (G138G e A165A) em pacientes adultos com febre mediterrânica familiar

Abstract Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. Methods: One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene. Results: As a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p < 0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p > 0.05). Conclusions: To our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed.

Resumo Objetivo: Identificaram-se mutações no gene da febre mediterrânica (MEFV) relatadas como responsáveis pela febre mediterrânica familiar (FMF). Este estudo teve como objetivo determinar a frequência de mutações no MEFV na região sul do mar de Mármara e investigar o impacto dos polimorfismos genéticos G138G (rs224224, c.414A > G) e A165A (rs224223, c.495C > A) nos achados clínicos da doença. Métodos: Foram incluídos neste estudo 116 pacientes com diagnóstico de FMF e 95 indivíduos no grupo controle. Usou-se o método de análise da sequência de DNA para identificar as 10 mutações mais prevalentes localizadas nos éxons 2 e 10 do gene MEFV. Resultados: Como resultado da análise da mutação MEFV, a mutação mais comum foi a mutação alélica M694 V, com uma taxa de frequência de 41,8%. Quando os grupos de pacientes e controles foram comparados em termos de frequência de ambos os alelos polimórficos (alelo polimórfico G, observado no G138G e o alelo polimórfico A, observado no A165A), a variação observada foi estatisticamente significativa (p < 0,001). Verificou-se que os tipos de mutação no MEFV não tinham relação com os achados clínicos nem com a amiloidose (p > 0,05). Conclusões: Que se tem conhecimento, este estudo é o primeiro feito na região sul do mar de Mármara que relata a frequência de mutações no MEFV. Os achados indicam que os polimorfismos G138G e A165A podem ter um impacto sobre o progresso da doença. Acredita-se que são necessários mais estudos que abranjam um maior número de casos e investiguem os polimorfismos do gene MEFV.