Publications by authors named "Helen Bornaun"

27 Publications

  • Page 1 of 1

SIMPLE: A Novel Scoring System for Predicting Hemodynamically Significant Patent Ductus Arteriosus Without Echocardiographic Evaluation in Extremely Low Birth Weight Infants.

Front Pediatr 2021 23;9:649515. Epub 2021 Mar 23.

Department of Neonatology, Kanuni Sultan Suleyman Training and Research Hospital, Health Sciences University, Istanbul, Turkey.

To develop a novel clinical scoring system for predicting hemodynamically significant patent ductus arteriosus (hsPDA) in extremely low birth weight (ELBW) infants. A prospective observational study was conducted among ELBW infants born in the study center during a 6-month period. Fourteen items were selected on a literature review basis and weighed by severity on an arbitrary 1-4 scale, the sum of which represented the Scoring preterm Infants for PDA cLinically without Echocardiographic evaluation (SIMPLE) score. The SIMPLE scores were compared at several time points during the first 3 days of life between two groups of patients: those with an hsPDA at echocardiography and those without. A total of 48 ELBW infants were enrolled, of which 30 infants developed hsPDA. The SIMPLE scores of the infants with hsPDA were significantly greater than those of the infants who did not develop hsPDA. Cut-off SIMPLE scores that were significantly associated with detection of symptomatic hsPDA at each evaluation time point were identified. SIMPLE is the first scoring system that depends on the risk factors and clinical findings of ELBW infants for early prediction of hsPDA. It is simple, objective and easy to perform, and it does not require any additional tests and/or echocardiographic evaluation. We suggest that SIMPLE can be used as a screening tool for determining the need for echocardiographic evaluation in ELBW infants in order to minimize the number of unnecessary pediatric cardiology consultations.
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http://dx.doi.org/10.3389/fped.2021.649515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021724PMC
March 2021

Prenatal Diagnosis of Double Aortic Arch: Associated Findings and Postnatal Clinical Outcomes.

J Ultrasound Med 2021 Mar 3. Epub 2021 Mar 3.

Department of Maternal and Fetal Medicine, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey.

Objectives: The aim of this study is to share our experience in the prenatal diagnosis and characteristics of double aortic arc and neonatal consequences.

Methods: We retrospectively analyzed 2153 fetal echocardiography reports between 2014 and 2019 years. Records of 14 fetuses with double aortic arc were examined. Prenatal and postnatal medical records, sonographic images, genetic reports, associated cardiac and extracardiac anomalies, and neonatal clinical results of affected fetuses were reviewed retrospectively.

Results: DAA was isolated in 9 of 14 (64.2%) cases, while the other five cases had cardiac or extracardiac accompanying ultrasound findings. Three of cases (21.4%) were associated with other heart pathologies, including ventricular septal defect, double outlet right ventricle, and persistent left superior vena cava. In 10 cases (71.43%), the right aortic arch diameter was dominant. The left aortic arc was dominant in two cases and both arcs were symmetrical in the remaining two cases. 22q11 microdeletion was the only chromosomal abnormality and was detected in two of nine patients who accepted genetic analysis. Intrauterine fetal death occurred in two of the cases. After birth, in 58.3% (7/12) of the live born cases various degrees of symptoms. Surgical repair was performed with the division of the aorta to all symptomatic cases at different times according to severity of the complaints.

Conclusions: Since it can cause severe respiratory distress in the postnatal period and may accompany chromosomal anomalies, it is important to provide antenatal diagnosis of double aortic arc and adequate counseling to the family.
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http://dx.doi.org/10.1002/jum.15669DOI Listing
March 2021

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.

J Hum Genet 2021 Jan 22. Epub 2021 Jan 22.

Department of Medical Genetics, Faculty of Medicine, Duzce University, 81010, Düzce, Turkey.

Marfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. The diagnosis of MFS relies on the revised Ghent criteria, outlined by international expert opinion to facilitate accurate recognition of this syndrome as well as to improve patient management and counseling. However, it may not always be possible to make a definitive diagnosis according to these criteria in each patient and thus molecular confirmation is necessary in subjects with suspected MFS. This debilitating, if not fatal, disorder is caused by mutations in FBN1, which encodes a major constitutive element of extracellular microfibrils. Here, we present a detailed clinical and molecular analysis of 76 Turkish patients with definitive or suspected MFS diagnosed at our center between 2014 and 2019. We were able to identify a total of 51 different FBN1 variants in our cohort, 31 of which have previously been reported in the relevant scientific literature. The remaining 20 variants have not been documented to date. In one patient, we detected a large deletion including the entire FBN1 gene using the array CGH approach. Currently, there are very few studies on the genotype-phenotype correlation of patients with MFS, and no clear genotype-phenotype maps for MFS have been constructed so far, except for some cases. We believe that our findings will make a rich and peculiar contribution to the elusive genotype-phenotype relationship in MFS, especially in this large and populous ethnic group.
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http://dx.doi.org/10.1038/s10038-021-00899-wDOI Listing
January 2021

Left subclavian artery originating from left pulmonary artery in DiGeorge syndrome.

Turk Gogus Kalp Damar Cerrahisi Derg 2020 Oct 21;28(4):691-694. Epub 2020 Oct 21.

Department of Medical Genetics, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey.

Left subclavian artery originating from the left pulmonary artery is a rare aortic arch anomaly. Herein, we, for the first time in Turkey, present a case of left subclavian artery originating from the left pulmonary artery via ductus arteriosus in DiGeorge syndrome and causing subclavian steal syndrome.
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http://dx.doi.org/10.5606/tgkdc.dergisi.2020.19613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759048PMC
October 2020

Fetal cardiac tumors: prenatal diagnosis, management and prognosis in 18 cases

J Turk Ger Gynecol Assoc 2020 12;21(4):255-259

Clinic of Perinatology, University of Health Sciences Turkey, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey

Objective: To evaluate the long-term follow-up of patients with fetal cardiac tumors (FCTs), and to review the literature regarding advances in diagnosis and management of FCTs in the last decade.

Material And Methods: In this retrospective study, pregnant women referred to a single center maternal-fetal medicine unit between 2013 and 2018 for advanced ultrasonography, were reviewed. Pediatric cardiology counseling was offered to women whose fetuses had FCTs. All patients were evaluated according to revised diagnostic criteria for tuberous sclerosis complex (TSC). Medical treatment was administered to patients with FCTs ≥30 mm or if they were symptomatic. Everolimus therapy at a dose of 2x0.25 mg twice a week for three months was started in the postnatal period.

Results: Out of the 75,312 patients referred 18 (0.024%) were diagnosed with FCTs. Six were referred with fetal arrhythmias and the others were diagnosed with FCTs during routine follow-up. Ten patients (55%) with FCTs were diagnosed with TSC. All tumors were assessed to be rhabdomyoma. Mean tumor diameter in fetuses with TSC was significantly larger than those without TSC (29.8±14.1 mm versus 9.3±4.8 mm, respectively; p=0.004). All patients (n=2) who received medical therapy had a diagnosis of TSC and multiple FCTs and a reduction in tumor size occurred. Tumor size decreased in eight patients spontaneously during follow-up, but increased in one patient who had multiple locations but no TCS. No change in size was observed in the remaining seven cases. None of the fetuses died during the 1-5 year follow-up period.

Conclusion: Rhabdomyoma are usually multiple and associated with TSC. Rhabdomyomas with TSC are larger, but most regress spontaneously or respond well to medical treatment after birth, and have an excellent long-term prognosis.
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http://dx.doi.org/10.4274/jtgga.galenos.2020.2019.0180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7726467PMC
December 2020

Prenatal diagnosis of left pulmonary artery sling and review of literature.

Echocardiography 2019 May 9;36(5):1001-1004. Epub 2019 Apr 9.

Department of Maternal Fetal Medicine, Kanuni Sultan Süleyman Education and Research Hospital, İstanbul, Turkey.

Left pulmonary artery sling (LPAS) is a very rare cause of large airway compression. In LPAS, the left pulmonary artery (LPA) arises from the proximal right pulmonary artery, coursing over the right mainstem bronchus, posterior to the trachea and anterior to the esophagus prior to reaching the left hilum. The aberrant course of the LPA results in anatomical obstruction of the right mainstem bronchus, the trachea, or both. Only a few reports present the prenatal features of LPAS. In this report, we present the prenatal diagnosis of a case of LPAS in one of a set of identical twins in which the only feature was that of an abnormal course of the LPA on 3-vessel tracheal view. The cross-sectional view at the level of three vessels which includes both pulmonary artery branches is useful to detect this abnormality. Color and power Doppler may be helpful as well.
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http://dx.doi.org/10.1111/echo.14325DOI Listing
May 2019

Prenatal diagnosis of aortopulmonary window by foetal echocardiography: 'U or reversed U sign'.

J Obstet Gynaecol 2019 Jul 11;39(5):712-713. Epub 2019 Mar 11.

a Department of Maternal Fetal Medicine , Kanuni Sultan Süleyman Education and Research Hospital , İstanbul , Turkey.

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http://dx.doi.org/10.1080/01443615.2018.1534817DOI Listing
July 2019

Neonatal atrial flutter: Three cases and review of the literature.

Turk J Pediatr 2018 ;60(3):306-309

Division of Neonatology, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

Yılmaz-Semerci S, Bornaun H, Kurnaz D, Cebeci B, Babayiğit A, Büyükkale G, Çetinkaya M. Neonatal atrial flutter: Three cases and review of the literature. Turk J Pediatr 2018; 60: 306-309. Atrial flutter (AFl) is known to be a seldom type of fetal and neonatal arrhythmia. Although it could end in severe morbidities such as hydrops fetalis or even death, with early prenatal diagnosis and prompt therapeutic approaches the majority of AFl cases show good prognosis. Neonatal AFl might be resistant to first step therapies. Therefore, secondary agents like flecainide, amiodarone, sotalol and cardioversion, if required, could be influent in perinatal tachyarrhythmia. In addition, close follow-up even after discharge is very important to keep all follow-up appointments. Herein, we present three cases of fetal/neonatal AFl in light of the literature and discuss the characteristics, diagnosis and treatment options.
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http://dx.doi.org/10.24953/turkjped.2018.03.011DOI Listing
February 2019

An incidentally detected anomalous origin of the right coronary artery from the pulmonary artery in an infant.

Arch Argent Pediatr 2018 Feb;116(1):e102-e105

Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

Isolated anomalous origin of the right coronary artery from the main pulmonary artery is a rare congenital anomaly, and few cases have been reported in the pediatric age group. Here in, we report an asymptomatic case of a 2-month-old male infant who has been diagnosed as anomalous origin of the right coronary artery from the main pulmonary artery during the evaluation for cardiac abnormalities. For a suspicion on echocardiography, cardiac catheterization and coronary angiography performed to verify the diagnosis of anomalous origin of the right coronary artery from the main pulmonary artery. The patient underwent surgery and did well after two months follow up. Early diagnosis may prevent patients from cardiovascular complications.
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http://dx.doi.org/10.5546/aap.2018.eng.e102DOI Listing
February 2018

Transcatheter correction of Scimitar syndrome: occlusion of abnormal pulmonary venous drainage and vascular supply in an infant.

Cardiol Young 2017 Oct 16;27(8):1627-1629. Epub 2017 May 16.

2Department of Pediatric Cardiology,Kanuni Sultan Süleyman Training and Research Hospital,İstanbul,Turkey.

Treatment of Scimitar syndrome is usually surgical; however, if there is "dual drainage" - that is, one to the inferior caval vein and the other to the left atrium - it is possible to successfully treat this anomaly via a less-invasive transcatheter approach. We report a case of Scimitar syndrome in a 21-month-old, male infant successfully treated with transcatheter embolisation.
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http://dx.doi.org/10.1017/S1047951117000750DOI Listing
October 2017

Prolonged P-Wave and QT Dispersion in Children with Inflammatory Bowel Disease in Remission.

Biomed Res Int 2017 21;2017:6960810. Epub 2017 Feb 21.

Department of Pediatric Cardiology, Medical Faculty, Necmettin Erbakan University, Konya, Turkey.

Ulcerative colitis (UC) and Crohn's disease (CD) are chronic inflammatory bowel diseases (IBD) with unclear underlying aetiologies. Severe cardiac arrhythmias have been emphasised in a few studies on adult IBD patients. This study aimed to investigate the alteration of the P-wave and QT interval dispersion parameters to assess the risk of atrial conduction and ventricular repolarisation abnormalities in pediatric IBD patients. Thirty-six IBD patients in remission (UC: 20, CD: 16) aged 3-18 years and 36 age- and sex-matched control patients were enrolled in the study. Twelve-lead electrocardiograms were used to determine durations of P-wave, QT, and corrected QT (QTc) interval dispersion. Transthoracic echocardiograms and 24-hour rhythm Holter recordings were obtained for both groups. The P-wave dispersion, QT dispersion, and QTc interval dispersion (Pdisp, QTdisp, and QTcdisp) were significantly longer in the patient group. The mean values of Pminimum, Pmaximum, and QTcminimum were significantly different between the two groups. The echocardiography and Holter monitoring results were not significantly different between the groups. Furthermore, no differences in these parameters were detected between the CD and UC groups. Results suggest that paediatric IBD patients may carry potential risks for serious atrial and ventricular arrhythmias over time even during remission.
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http://dx.doi.org/10.1155/2017/6960810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339525PMC
April 2017

Pulmonary Hypertension in Children With β Thalassemia Major, Are Splenectomy and High-Ferritin Levels Related or Not?

J Pediatr Hematol Oncol 2017 05;39(4):259-265

*Department of Health Sciences, Uskudar University †Department of Pediatric Cardiology, Kanuni Sultan Süleyman Educational and Research Hospital, İstanbul, Turkey.

We evaluated the risk of pulmonary hypertension (PH) by measuring the velocity of the tricuspid regurgitation jet velocity (TRV) on echocardiography and the associations among the TRV, ferritin, and history of splenectomy in children with β thalassemia major (TM). In total, 85 children with TM were examined with continuous Doppler flow. Patients with an abnormal TRV (>2.5 m/s) were grouped into those with a TRV of 2.5 to 2.9 m/s and TRV>2.9 m/s. A TRV of >2.5 m/s was identified in 72; 31 (36%) of these patients had a TRV of >2.9 m/s, suggesting a risk for significant PH. The ferritin concentration was significantly higher in patients with a TRV of >2.9 m/s and showed a positive correlation with a TRV. The TRV was significantly correlated with markers of diastolic function: the tricuspid peak early diastolic wave (E) was higher in patients with a TRV of >2.9 m/s and showed a significant correlation with the TRV (R=0.315). The ratio of the TRV over the velocity-time integral (VTI) at the right ventricular outflow tract (TRV/VTI RVOT), which is correlated with the pulmonary vascular resistance, was higher in patients with a TRV of >2.9 m/s. In total, 27 patients had splenectomy. Splenectomized patients had a higher TRV and splenectomy was correlated with the TRV (R=-0.221). A risk of PH as defined by a TRV of >2.9 m/s was common in our patients with TM. Screening with Doppler flow indices on echocardiography can detect PH in early stages.
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http://dx.doi.org/10.1097/MPH.0000000000000803DOI Listing
May 2017

Flecainide as first-line treatment for fetal supraventricular tachycardia.

J Matern Fetal Neonatal Med 2018 Feb 14;31(4):407-412. Epub 2017 Feb 14.

a Department of Obstetrics and Gynecology, Maternal-Fetal Medicine Unit , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey.

Objective: The aim of this study was to evaluate utilization, efficacy, and side effects of flecainide treatment as first-line agent in patients with fetal supraventricular tachycardia (SVT).

Method: This retrospective review was conducted on 23 consecutive fetal tachyarrhythmia cases that met inclusion criteria. If the treatment was necessary, then flecainide was used as first-line treatment in all cases.

Result: Among the study group, there were 21 (91.3%) cases of SVT and 2 (8.6%) cases of Atrial Flutter (AF). Sixteen fetuses had persistent SVT and five fetuses had intermittent SVT. We treated 17 fetuses with flecainide monotherapy and 15 of them converted to sinus rhythm and remaining two fetuses were refractory to monotherapy. The median time to conversion to sinus rhythm was 3.8 ± 1.6 days. Only one fetus (20%) among the intermittent SVT cases required anti-arrhythmic treatment.

Conclusion: Our study has demonstrated that flecainide is an effective first-line treatment for fetal SVT with high success rate (88.2%), low side effect profile and relatively easy utilization. Based on the current study and recently published article results, flecainide can be recommended as the drug of first choice for treatment of fetal SVT cases.
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http://dx.doi.org/10.1080/14767058.2017.1286317DOI Listing
February 2018

Assessment of lipid profile and some risk factors of atherosclerosis in children whose parents had early onset coronary artery disease.

Arch Argent Pediatr 2017 02;115(1):50-54

Pediatric Cardiology Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

Background/aim: The objective of our study was to analyze the lipid profile and some risk factors of atherosclerosis such as oxidized-low density lipoprotein (ox-LDL), small dense LDL (sd LDL) in the offspring of patients with premature coronary heart disease (CHD).

Population And Methods: Children whose parents had early onset CHD were matched with age and sex pairs. Study and controls were analyzed for lipid levels, apolipoproteins (Apo- A,B,E), ox-LDL, sd LDL and lipoprotein (a) [Lp(a)]. The data were evaluated with SPSS using "Student t and Mann-Whitney U" tests.

Results: The study group children (n: 43) had higher LDL, Lp(a) and ox-LDL levels, ratios of TC/HDL, Apo-B/A, LDL/HDL and ox-LDL/HDL (p<0.05) than control group.

Conclusion: These findings suggest that dyslipidemia and increased LDL, Lp(a) and ox-LDL levels are common in the offspring of patients with early onset CHD and account largely for their familial predisposition for CHD.
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http://dx.doi.org/10.5546/aap.2017.eng.50DOI Listing
February 2017

Right Atrial Appendage Aneurysm in a Newborn Diagnosed with Fetal Echocardiography.

Case Rep Pediatr 2016 15;2016:8616918. Epub 2016 Sep 15.

Department of Neonatology, Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey.

Right atrial appendage aneurysm is a very rare condition which can be asymptomatic or can cause arrhythmia or life-threatening thromboembolism. We report a case of newborn with right atrial appendage aneurysm who was diagnosed with fetal echocardiography. Anticoagulant therapy was applied to prevent thromboembolism and he is still going on follow-up without any complaint.
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http://dx.doi.org/10.1155/2016/8616918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040808PMC
September 2016

Detection of Early Right Ventricular Dysfunction in Young Patients With Thalassemia Major Using Tissue Doppler Imaging.

Iran J Pediatr 2016 Jun 18;26(3):e5808. Epub 2016 May 18.

Departments of Statistics, Istanbul Commerce University, Istanbul, Turkey.

Background: Myocardial iron overload is the most common cause of mortality in patients with thalassemia major (TM), also known as beta-thalassemia. T2* cardiovascular magnetic resonance imaging (MRI) is the best way of monitoring cardiac iron, and new echocardiographic techniques can be used to assess cardiac function.

Objectives: The aim of this study was to assess the systolic and diastolic right ventricular (RV) function of patients with TM using tissue Doppler imaging (TDI) and to determine whether this echocardiographic technique is an adequate diagnostic tool for the screening and detection of subclinical cardiac dysfunction.

Patients And Methods: Eighty-four patients with TM were evaluated by conventional echocardiography and pulse-wave TDI. The data of the TM group (Group 1) were compared with that of 85 age- and sex-matched healthy controls (Group 2). Cardiovascular T2* MRI examinations were performed in 49 of the 85 patients.

Results: The patients with TM had significantly lower values for weight, height, body mass index, systolic arterial pressure, deceleration time, E'/A', and ejection time (ET) than the controls. Group 1 also had significantly higher values for peak early diastolic velocity (E) over peak late diastolic velocity (A), peak early diastolic velocity of TDI (E'), peak late diastolic velocity of TDI (A'), E/E', isovolumetric relaxation time, isovolumetric contraction time, and RV magnetic perfusion imaging (MPI) than Group 2.

Conclusions: RV diastolic dysfunction occurs before systolic deterioration in patients with TM and cannot be screened with conventional echocardiographic techniques. In routine practice, TDI measurements, MPI (for global function) and the E/E' parameter (for diastolic function) can be used to screen and detect early RV dysfunction.
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http://dx.doi.org/10.5812/ijp.5808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992178PMC
June 2016

Regression of Cardiac Rhabdomyomas in a Neonate after Everolimus Treatment.

Case Rep Pediatr 2016 27;2016:8712962. Epub 2016 Jun 27.

Department of Neonatology, Kanuni Suleyman Teaching and Research Hospital, 34303 Istanbul, Turkey.

Cardiac rhabdomyoma often shows spontaneous regression and usually requires only close follow-up. However, patients with symptomatic inoperable rhabdomyomas may be candidates for everolimus treatment. Our patient had multiple inoperable cardiac rhabdomyomas causing serious left ventricle outflow-tract obstruction that showed a dramatic reduction in the size after everolimus therapy, a mammalian target of rapamycin (mTOR) inhibitor. After discontinuation of therapy, an increase in the diameter of masses occurred and everolimus was restarted. After 6 months of treatment, rhabdomyomas decreased in size and therapy was stopped. In conclusion, everolimus could be a possible novel therapy for neonates with clinically significant rhabdomyomas.
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http://dx.doi.org/10.1155/2016/8712962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939353PMC
July 2016

Systemic onset juvenile idiopathic arthritis with macrophage activation syndrome and coronary artery dilatation misdiagnosed as Kawasaki disease.

Turk J Pediatr 2015 Sep-Oct;57(5):518-21

Division of Pediatric Rheumatology, İstanbul Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey.

Systemic onset juvenile idiopathic arthritis (SoJIA) is characterized by arthritis, fever and visceral organ involvement including hepatosplenomegaly, lympadenopathy and serositis. This is a case of SoJIA misdiagnosed as Kawasaki disease (KD) and developed machrophage activation syndrome (MAS) secondary to Ebstein-Barr virus (EBV) infection. It is presented to point out the conditions that may come along. First of all, SoJIA should be kept in mind while making the differential diagnosis of coronary arterial ectasias and dilatations usually seen in vasculitic diseases like KD. Second, as a very fatal complication MAS should always be considered while following a patient with the diagnosis of SoJIA. Infections like EBV may be the potential triggers for development of MAS especially in immunesupressed patients.
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September 2017

HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient.

Asian Pac J Allergy Immunol 2016 Mar;34(1):73-6

Istanbul Kanuni Sultan Süleyman Educational and Research Hospital, Department of Pediatric Immunology and Allergy, Istanbul, Turkey.

Background: Mutations in the HAX-1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN), which particularly manifests with recurrent skin, lung and deep tissue infections from the first few months of life.

Objective: We retrospectively evaluated the clinical and laboratory findings of the patients diagnosed with SCN carrying HAX1 gene mutations.

Methods: A total of five patients with SCN, carrying a HAX1 gene mutation, were evaluated in terms of clinical and laboratory findings. Mutation analysis of the candidate genes (HAX1, ELANE and CSF3R) was performed.

Results: All of the patients lived in Turkey; four of them were of Kurdish origin and one was Turkish. Of the five patients, three were girls and two were boys, and the mean age of the patients was 8.8 years old (range 4-15 years). The mean age of diagnosis was 25.8 months (range 2 months-5 years). The infections diagnosed included recurrent gingivitis, stomatitis, and skin and soft tissue abscesses. Developmental retardation and epilepsy were present in only one patient, whereas speech retardation was present in two. All of our patients had a HAX1 mutation, and are still alive and none of them has shown malignant transformation yet.

Conclusion: Complete blood count should be performed and absolute neutrophil count should be evaluated in patients with recurrent severe infections. In the event that neutropenia is detected, they should be investigated in terms of SCN and mutation analysis should be performed.
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http://dx.doi.org/10.12932/AP0618.34.1.2016DOI Listing
March 2016

Contribution of TGFB1 and TNF-α genes in one of twin pregnancies with congenital complete heart block phenotype.

Int J Cardiol 2016 May 13;210:16-8. Epub 2016 Feb 13.

Kanuni Sultan Suleyman Training and Research Hospital, Department of Obstetrics and Gynecology, Perinatology Unit, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.ijcard.2016.01.214DOI Listing
May 2016

Kawasaki disease shock syndrome: a rare and severe complication of Kawasaki disease.

Turk J Pediatr 2016 ;58(4):415-418

Division of Pediatric Cardiology, Department of Pediatrics, Koç University Faculty of Medicine, İstanbul, Turkey.

Kawasaki disease is an acute systemic vasculitis that occurs most commonly in young children. It affects medium-sized muscular arteries and the coronary arteries are the predominant site of involvement. Morbidity and mortality is generally due to coronary artery aneurysms that develop during the chronic phase. Although it is well known that Kawasaki disease can cause myocarditis, tachycardia and heart failure during acute stage, Kawasaki disease shock syndrome has been recently described. It is characterized by hypotension, signs and symptoms of poor perfusion and a shock-like state. Herein we describe two cases of Kawasaki disease shock syndrome that were treated in the pediatric intensive care unit and followed a course without morbidity or mortality.
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http://dx.doi.org/10.24953/turkjped.2016.04.012DOI Listing
July 2017

Prenatal diagnosis and postnatal outcome of persistent right ductus arteriosus: a report of three cases.

J Med Ultrason (2001) 2015 Oct 27;42(4):571-4. Epub 2015 Jun 27.

Department of Pediatric Cardiology, Kanuni Sultan Suleyman Education and Research Hospital, Istanbul, Turkey.

The ductus arteriosus is a fetal vascular connection between the main pulmonary artery and aorta that diverts blood away from the pulmonary bed. Left and right ductus arteriosi emerge from embryological aortic arches. In normal embryologic cardiac development, both right aortic and ductal arches regress and the left ones persist. Persistent right ductus arteriosus (rDA) is one of the congenital anomalies of the ductal arch. In this paper, we report three cases of persistent right ductus arteriosus with right aortic arch.
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http://dx.doi.org/10.1007/s10396-015-0644-2DOI Listing
October 2015

Treatment of neonatal fungal infective endocarditis with recombinant tissue plasminogen: activator in a low birth weight infant case report and review of the literature.

Mycoses 2015 Oct 27;58(10):578-81. Epub 2015 Jul 27.

Department of Neonatology, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey.

With advances in medical sciences, an increase in survival rates of low birth weight; increased incidence in use of catheter and antibiotics, and total parenteral nutrition are reported, therefore, the rate of fungal infections in late and very late onset neonatal sepsis have increased. Although fungal endocarditis rarely occur in newborns, it has a high morbidity and mortality. Antifungal therapy is often insufficient in cases who develop fungal endocarditis and surgical treatment is not preferred due to its difficulty and high mortality. Herein, fungal endocarditis in a preterm newborn treated with single-dose recombinant tissue plasminogen activator in addition to antifungal therapy is presented and relevant literature has been reviewed. The vegetation completely disappeared following treatment and no complication was observed.
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http://dx.doi.org/10.1111/myc.12359DOI Listing
October 2015

Cardiac T2* MRI assessment in patients with thalassaemia major and its effect on the preference of chelation therapy.

Int J Hematol 2014 Jun 10;99(6):706-13. Epub 2014 Apr 10.

Pediatric Hematology-Oncology, Department of Pediatrics, Istanbul Kanuni Sultan Suleyman Education and Research Hospital, Turgut Ozal cad No. 1, Halkali, 34306, Istanbul, Turkey,

The aim of the study is to assess the relationship between T2* magnetic resonance imaging (MRI) values and age, serum ferritin level, left ventricular ejection fraction (LVEF), splenectomy status, and to identify appropriate modifications to chelation therapy based on T2* MRI results of children with thalassaemia major. Sixty-four patients with thalassaemia major (37 girls/27 boys) older than 8 years of age were enrolled in the study. Based on the first T2* MRI, the patients' myocardial iron depositions were classified into three groups: T2* MRI <10 ms (high risk group), T2* MRI 10-20 ms (medium-risk group) and T2* MRI >20 ms (low-risk group). There was no significant relationship between T2* MRI value and ages, serum ferritin levels and splenectomy status of thalassaemia major patients. The mean LVEFs were 60, 75, and 72.5 % in the high-, medium-, and low-risk groups, respectively (P = 0.006). The mean cardiac iron concentrations calculated from the T2* MRI values were 4.96 ± 1.93, 1.65 ± 0.37, and 0.81 ± 0.27 mg/g in the high-, medium-, and low-risk groups, respectively. Chelation therapies were re-designed in 24 (37.5 %) patients according to cardiac risk as assessed by cardiac T2* MRI. In conclusion, until recently, T2* MRI has been employed to demonstrate cardiac siderosis without a direct relationship with the markers used in follow-up of patients with thalassaemia. However, modifications of chelation therapies could reliably be planned according to severity of iron load displayed by T2* MRI.
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http://dx.doi.org/10.1007/s12185-014-1575-1DOI Listing
June 2014

Assessment of cardiac parameters in evaluation of cardiac functions in patients with thalassemia major.

Pediatr Hematol Oncol 2012 Apr;29(3):220-34

Pediatric Cardiology, Department of Pediatrics, Istanbul Kanuni Sultan Suleyman Hospital, Istanbul-Turkey.

The aim of the study was to evaluate cardiac function and early cardiac dysfunction of patients followed as thalassemia major. In this study, the authors compared 100 patients, diagnosed as thalassemia major with mean age 11.84 ± 4.35, with 60 healthy control subjects at the same age between 2008 and 2011. Early diagnosis of iron overload that may occur after repeated transfusions is important in this patient group. To detect early iron accumulation, the authors compared ferritin with the echo findings, the 24-hour Holter, and cardiac magnetic resonance imaging (MRI) T2* values in the patients of same age and sex, treated with chelators, without heart failure, nonsplenectomized, and do not differ in the presence of hepatitis C. Ferritin levels, left ventricular systolic functions (ejection fraction [EF], shortening fraction [SF]), left ventricular measurements, left ventricular diastolic functions, T2* image on cardiac magnetic resonance, heart rate variables in 24 hours, and Holter rhythm were evaluated to show the early failure of cardiac functions. In this study the authors confirmed that iron-related cardiac toxicity damages electrical activity earlier than myocardial contractility. Left ventricular diastolic diameter (LVDd), left ventricular mass (LVM), and LV systolic diameter (LVDs) levels were significantly higher in the patient group with ectopia. Patients with ectopia are the ones in whom LVM and LVDd are increased. In thalassemia major patients with ectopia, LF/HF ratio was markedly increased, QTc dispersion was clearly found higher in patients with ectopia rather than nonectopic patients. The standard deviation all normal RR interval series (SDNN) was found clearly lower in thalassemia major group with ectopia than control group because it is assumed that increase in cardiac sympathetic neuronal activity is related to exposure to chronic diastolic and systolic failure.
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http://dx.doi.org/10.3109/08880018.2012.671449DOI Listing
April 2012

Repolarization abnormalities in Duchenne-type muscular dystrophy.

Turk Kardiyol Dern Ars 2009 Dec;37(8):538-42

Pediatric Cardiology Department of Dr. Behçet Uz Children's Hospital, Izmir, Turkey.

Objectives: Duchenne-type muscular dystrophy (DMD) is an X-linked recessive inherited disease affecting mainly the skeletal and cardiac muscles. We aimed to seek associations between the incidence of ventricular arrhythmias and corrected QT (QTc) dispersion and its component, corrected JT (JTc) dispersion in patients with DMD.

Study Design: The study included 43 consecutive male patients (mean age 8.8+/-3.0 years; range 3 to 17 years) with DMD. On standard 12-lead electrocardiograms (ECG) the QT and JT intervals and the corrected QT (QTc) and JTc dispersions were calculated. Ventricular extrasystoles were assessed on 24-hour Holter ECG recordings. Ventricular dysrhythmic patterns were evaluated according to the Lown-Wolf classification. The results were compared with those of a control group of 34 healthy children (mean age 9.5+/-3.1 years).

Results: The mean QTc and JTc dispersion values were significantly higher in DMD patients compared to controls (QTc: 78.0+/-20.6 msec vs. 50.9+/-16.5 msec; JTc: 77.6+/-20.5 msec vs. 50.8+/-17.7 msec; p<0.05). The results of Holter monitoring were evaluated in 36 patients and in 33 controls. Ventricular extrasystoles were found in six patients (16.7%) and in one (grade I) control subject (3%). The incidence of pathological findings was significantly higher in the study group (p<0.05), including grade I pathology in four patients, grade II pathology in one patient, and grade IV in one patient. QTc and JTc dispersion values of the patients with and without ventricular extrasystoles showed no statistically significant difference (p>0.05).

Conclusion: Similar QTc and JTc dispersion values detected in patients with and without ventricular extrasystoles may suggest that ventricular repolarization abnormalities occur in early life and may predispose to the development of ventricular arrhythmias in the long-term.
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December 2009