Brucella infection associated with complete atrioventricular block

Background: The clinical spectrum of Brucella infection is quite diverse and characterized by multi-system involvement. Patients present with myocarditis, endocarditis, or pericarditis. Infective endocarditis is the most common cardiovascular complication in patients with brucellosis. Although conduction abnormalities are seen in cases with endocarditis, they are reported very rarely in the setting of cardiac Brucella infection. Case Report: An eight and a half-year-old male patient was referred to our clinic due to inadequate response to cotrimaxazole plus streptomycin treatment at the 15th day of admission. Although local hospital records on the patient showed a heart rate of 80 bpm, we determined a heart rate of 46 bpm. The electrocardiogram showed complete atrioventricular (AV) block. The average heart rate was determined as 48 bpm with 24-hour Holter electrocardiogram (ECG) monitoring. The echocardiographic examination showed normal-sized heart chambers and the absence of valvular involvement. An agglutination test for brucellosis was found to be positive with a titer of 1/320. High fever, arthralgia, and splenomegaly regressed following doxycycline plus rifampicin therapy, but there was no improvement in the AV block. A permanent pacemaker was implanted because of the detection of an average heart rate of 48 bpm. Conclusion: Because cardiac failure and rhythm abnormalities are reported in the course of Brucella infection and may be associated with significant outcomes, cases with brucellosis should be evaluated carefully in terms of cardiac involvement. This report aims to draw attention to complete AV block as an extremely rare complication of Brucella infection

Pompe Tanısı Alan Hastalarımızın Klinik ve Moleküler Özellikleri: Tek Merkez Deneyimi

Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessive inherited lysosomal storage disease caused by pathogenic variants in the GAA gene that encodes lysosomal acid ?-glucosidadase (GAA) enzyme. the incidence of the disease varies from country to country. PD is mainly presents as two groups of phenotypes as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease. Objective: the aim of this study is to discuss the molecular and clinical characteristics of infantile-onset Pompe disease (IOPD) and late-onset pompe disease (LOPD) followed-up in our center. Method: A total of 10 patients diagnosed with IOPD and 4 patients diagnosed with LOPD in Izmir Dr. Behcet Uz Pediatric Health and Diseases and Surgery Training and Research Hospital Pediatric Metabolism Unit between 06.01.2015 and 06.01. 2019 were included in the study. the patients’ demographic characteristics, clinical findings at the time of diagnosis and during the folllow-up period, biochemical findings, muscle biopsy data, results of enzymatic analyses and moleculargenetic characteristics were recorded retrospectively. Results: A total of 10 patients were included in the study. 7 patients were diagnosed with IOPD and 3 patients with LOPD. the median follow-up period of all patients was 26 months (range: 6-42 months). the c.896 C> T (8/32, 25%) is detected as the most common variant. 1237G>T (p.Asp413Tyr), c.2019 C>A (p.Asn673Lys), c.418A>T (p.Asn140Tyr) variants were detected for the first time. Conclusion: Pompe disease is one of the most important congenital metabolic diseases in which early diagnosis and treatment are of great importance. Despite the significant improvement in disease prognosis with the introduction of enzyme replacement therapy, there are still patients with poor prognosis despite early diagnosis. Phenotype-genotype studies are crucial in this respect.Giriş: Pompe hastalığı (PD), glikojen depo hastalığı Tip II (GSD II), lizozomal acid?-glucosidadase (GAA) enzimini kodlayan GAA genindeki patojenik varyantlar sonucu ortaya çıkan otozomal resesif kalıtımlı lizozomal depo hastalığıdır. Hastalığın sıklığı ülkeden ülkeye değişmektedir. Temel olarak erken başlangıçlı pompe hastalığı (IOPD) ve geç başlangıçlı pompe hastalığı (LOPD) olmak üzere iki gruba ayrılır. Amaç: Çalışmamız, merkezimizde izlenen LOPD hem IOPD hastalarının moleküler ve klinik özelliklerinin tartışılmasını amaçlamaktadır. Yöntem: Çalışmamıza 01.06.2015-01.06.2019 tarihleri arasında İzmir Dr.Behçet Uz Çocuk Sağlığı ve Hastalıkları ve Cerrahisi Eğitim Araştırma Hastanesi Çocuk Metabolizma Ünitesi’nde IOPD hastalığı tanısı alan toplam 10 hasta ve LOPD tanısı alan 4 hasta dahil edilmiştir. Hastaların retrospektif olarak demografik özel- likleri, tanı anındaki ve izlem sırasındaki klinik bulguları, biyokimyasal bulguları, kas biyopsisi verileri, enzimatik analiz sonuçları ve moleküler-genetik özellikleri kayıt altına alındı. Bulgular: Çalışmamıza toplam 10 hasta dahil edilmiştir. 7 hasta IOPD, 3 hasta LOPD tanısı almıştır. Tüm hastaların izlem süresi median 26 ay (range: 6-42 ay) olarak saptanmıştır. En sık görülen varyant c.896 C>T (8/32, %25) olarak saptanmıştır. 1237G>T (p.Asp413Tyr), c.2019 C>A (p.Asn673Lys), c.418A>T (p.Asn140Tyr) varyantları ilk kez saptanmıştır. Sonuç: Pompe hastalığı erken tanı ve sonuç olarak tedavinin büyük önem taşıdığı doğumsal metabolik hastalıkların başında gelmektedir. Enzim replasman teda- visinin kullanıma girmesi ile hastalık prognozunda belirgin düzelme olmakla birlikte erken tanıya rağmen halen prognozu kötü giden hastalar bulunmaktadır. Fenotip-genotip çalışmaları bu açıdan önem taşımaktadır

Fallot tetralojili olgularda tam düzeltme ameliyatı öncesi pulmoner arter gelişim indekslerini etkileyen faktörler: 100 olguda retrospektif gözlemsel bir değerlendirme

Objective: the present study aimed to evaluate the association between the equations indicating the pulmonary artery development prior to total correction surgery in patients diagnosed with Tetralogy of Fallot, such as McGoon ratio, Nakata index and pulmonary artery Z score and the course of aortic arch, presence/absence of accompanying patent foramen ovale (PFO) and the patient's gender.Methods: the study included 100 cases who had diagnostic angiography before the total correction surgery with the diagnosis of Tetralogy of Fallot between January 2003 and January 2011. the study retrospectively evaluated using estimated angiographic parametres as left ventricular end-diastolic diameter (LVEDd), the presence of PFO and the course of aortic arch as obtained by echocardiography, and the McGoon ratio, Nakata index and pulmonary artery Z scores.Results: of the patients, 72% were male and 28% were female. the median age was 21 months (min: 4,max: 228 mos) and the birth weight was 2960±550 gram. Left aortic arch dominancy (77%) was observed. LVEDd was below normal in 18% of the patients. PFO, coronary abnormalities, MAPCA, left superior vena were seen in 23, 4, 3, and 6% of the patients respectively. Pulmonary artery Z scores were found lower in patients with PFO compared to those without PFO (p;lt;0.05). the course of aortic arch and gender were not different among the patients.Conclusion: the presence of PFO may affect pulmonary artery Z scores in cases with Tetralogy of Fallot. on the other hand, we believe that the course of the aortic arch and gender of the patients are not among factors affecting pulmonary artery development before total correction surgery.Amaç: Fallot tetralojisi tanısı konulan hastaların tam düzeltme ameliyatı öncesi pulmoner arter gelişimini gösteren McGoon oranı, Nakata indeksi, pulmoner arter Z skoru ile arkus aortanın seyri, patent foramen ovalenin (PFO) varlığı veya yokluğu ve hastanın cinsiyeti arasındaki ilişkinin değerlendirilmesi amaçlandı. Yöntemler: Ocak 2003 ile Ocak 2011 tarihleri arasında Fallot tetralojisi tanısı ile tam düzeltme ameliyatı öncesi diyagnostik anjiografi yapılan, öncesinde şant cerrahisi geçirmeyen 100 olgu çalışmaya alındı. Retrospektif olarak ekokardiyografi ile elde edilen sol ventrikül diyastol sonu çapı (LVEDd), PFO ve arkus aortanın seyri, anjiografik olarak ölçülen McGoon oranı, Nakata indeksi, pulmoner arter Z skoru değerlendirildi. Bulgular: Olguların %72'si erkek, %28'i kızdı. Median yaş 21 ay (min: 4 ay max: 228 ay) olan hastaların doğum ağırlıkları ise 2960±550 gramdı. Hastalarda sol arkus aorta hâkimiyeti (%77) izlendi. LVEDd %18 hastada normalin altındaydı. PFO %23, koroner anomali %4, majör aorto pulmoner kollateral arterler (MAPCA) %3, sol superior vena kava %6 oranındaydı. PFO'su olan hastalarda pulmoner arter Z skoru olmayanlara göre daha düşük bulundu (p0.05). Arkus aorta seyrinin ve cinsiyetin ise hastalar arasında fark oluşturmadığı izlendi.Sonuç: Fallot tetralojili hastalarda PFO'nun varlığı pulmoner arter Z skorunu etkileyebilir. Bunun yanı sıra arkus aorta seyrinin ve cinsiyetin tam düzeltme ameliyatı öncesi pulmoner arter gelişimini etkileyen faktörler olmadığını düşünmekteyiz

Improvement in cardiac structure and functions early after transcatheter closure of secundum atrial septal defect in children and adolescents

We sought to assess the effects of transcatheter closure of atrial septal defect (ASD) on right and left ventricular form and functions, as well as atrial volumes and pulmonary venous flows. We enrolled 25 patients (mean age: 9.02) prospectively who underwent successful transcatheter closure of secundum ASD. We performed transthoracic echocardiography, including two-dimensional, pulsed wave Doppler, M-mode echocardiography, and tissue Doppler imaging before the procedure and 1 day, 1 month, 3 months and 6 months after the procedure. Serum brain natriuretic peptide (BNP) levels were measured prior to the procedure, and 1 day, 1 month, and 3 months thereafter. Mitral inflow early diastolic wave increased significantly, while isovolumetric relaxation time and deceleration time did not change during the follow-up. The E/E'was also increased significantly during follow-up. After the closure, right ventricular size and right atrial volume reduced, while left ventricular size increased significantly. There was a statistically significant improvement in left and right ventricular Tei indices. Pulmonary vein systolic velocity and the ratio of systolic to diastolic wave decreased, while atrial reversal wave (ARW) velocity increased immediately after the procedure. Although the concentration of BNP was increased on the first day after the procedure, its levels reduced and had reached the pre-procedure values at 1 month of follow-up. In the study, a significant improvement in the right and left ventricular functions was detected after transcatheter closure of secundum ASD in the short-term follow-up. In addition, we found a significant reduction in right heart sizes with corresponding global functional improvement in the right ventricle after the procedure

Risk factors for persistence of coronary artery abnormalities in Turkish children with Kawasaki disease

© 2015, Turkish Journal of Pediatrics. All rights reserved.The aim of this study was to identify the risk factors for persistence of coronary artery abnormalities (CAAs) in Kawasaki disease and to compare the differences between complete (n=25) and incomplete (n=18) forms of the disease in relation to CAAs. The patients’ demographic (age and sex), clinical (season of admission, duration of fever, form of Kawasaki disease), laboratory (complete blood count, eosinophil count, serum biochemistry, C-reactive protein level, erythrocyte sedimentation rate [ESR], urinary analysis), echocardiographic and therapeutic data were evaluated retrospectively from the medical records. The incidence of sterile pyuria was nearly twofold greater in patients with initial CAAs than in patients in which CAAs were not present (25% and 13%, respectively; p=0.33). In multivariate logistic regression analysis, ESR and pyuria were found to be associated with persistence of CAAs (p=0.035 and p=0.046, respectively). In addition, we found that duration of fever was significantly associated with persistence of CAAs (p=0.045). However, gender, age at presentation, peripheral blood eosinophilia, low albumin level, CRP, leukocytosis and anemia were not predictive for persistence of CAAs. There was no difference between the complete and incomplete form of the disease in regard to persistence of CAAs. As a result, we have determined that duration of fever, high levels of ESR and presence of sterile pyuria can be used to predict the persistence of CAAs in Kawasaki disease

Are clinical features and cardiac biomarkers at admission related to severity in pediatric acute myocarditis?: Clinical features and cardiac biomarkers in pediatric acute myocarditis.

Objectives: To evaluate the factors associated with intensive care requirement and mortality in pediatric myocarditis. Methods: Children aged 28 days to 18 years who were diagnosed with acute myocarditis in a pediatric emergency department between January 2010 and September 2020 were enrolled in the study retrospectively. Demographic and clinical features, cardiac biomarkers, and imaging findings were evaluated. Length of hospital stay, need for hospitalization in the pediatric intensive care unit (PICU), treatments, and survival outcomes were recorded. To define the severity of disease, three groups were created and the data were compared in terms of clinical, laboratory, and imaging findings. The patients treated in the pediatric ward were compared with those hospitalized in the PICU. Ventricular dysfunction was defined in patients with a left ventricular ejection fraction (LVEF) of 50%. Also, survivor and non-survivor patients were compared. Results: A total number of 62 patients with a median age of 8 years were included. Chest pain and tachycardia were the most common findings on physical examination. The mean LVEF was 59.3 +/- 13.0% at admission. Of the patients, 17 were hospitalized in the PICU (27.4%). Chest pain was more common in patients hospitalized in the pediatric ward (p<0.001), and hypotension, vomiting, arrhythmia, were more common and LVEF was lower in patients in the PICU (p = 0.017, p = 0.008, p = 0.006, and p = 0.025, respectively). The children treated in the PICU were younger than those in the pediatric ward (p = 0.009). Troponin I levels were significantly higher in the pediatric ward (p = 0.035), and brain natriuretic peptide (BNP) levels were higher in patients in the PICU (p = 0.012). Death occurred in four patients. Hypotension and vomiting were significantly more common in non-survivors (p = 0.020 and 0.004, respectively). Inotropes and intravenous immunoglobulin (IVIG) were more commonly used in non-survivors (p = 0.001 and p = 0.015, respectively). BNP levels were higher in non-survivors (p = 0.008), and troponin I levels were not different between survivors and non -survivors (p = 0.260). Conclusion: In pediatric acute myocarditis, lower LVEF, increased BNP, as well as the presence of hypotension and arrhythmia were found to be related to intensive care requirement. Hypotension and vomiting were found to be more common in non-survivors. Due to the possibility of rapidly worsening disease, physicians should be alert to the presence of these findings. (c) 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved