Kürşat Tokel

Systemic Inflammatory Response Related to Cardiopulmonary Bypass and Its Modification by Methyl Prednisolone: High Dose Versus Low Dose

AbstractThe objective of our study was to investigate the safety and efficacy of high-dose methyl prednisolone (MP) in modifying the systemic inflammatory response (SIR) to cardiopulmonary bypass (CPB) and to compare its efficacy with low-dose MP in children undergoing cardiac surgery for congenital heart disease. Thirty children with congenital heart disease undergoing CPB were randomly assigned to two groups: group 1 (n = 15) received 30 mg/kg MP by an intravenous infusion for 30 minutes and group 2 (n = 15) received 2 mg/kg intravenously, before the onset of CPB. Postoperative clinical parameters were recorded, and serum interleukin (IL)-6 and 8 levels, acute phase reactants, and blood biochemistry were determined serially for both groups. In both groups plasma IL-6 and 8 levels were elevated above the preoperative levels at 2 and 24 hours after declamping. The peak levels were obtained at 2-hour samples. The difference between the two groups in terms of postoperative IL-6 and 8 levels was not statistically significant. C-reactive protein (CRP) levels and polymorphonuclear leukocyte counts, postoperative core temperature, duration of mechanical ventilation, period of stay in intensive care unit, oxygenation indices, and biochemical parameters of patients did not significantly differ in the two groups. Only 1 patient in group 1 had elevated liver enzymes, blood urea nitrogen, and creatinine in the postoperative period. No significant complications were observed due to treatment with high-dose MP. Although postoperative IL and CRP levels indicated a SIR in our patients, the clinical picture was apparently affected in only 1 patient and she was in the high-dose MP group. CPB initiates a SIR that is associated with an increase in neutrophil count, CRP, and IL-6 and 8 levels. High-dose (30 mg/kg) MP was not superior to low-dose (2 mg/kg) in blunting the SIR to CPB in pediatric patients undergoing open-heart surgery.

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.

This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double‐outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo‐auriculo‐vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2–C3, and posterior fusion of the T1‐T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap.

Effect of Congenital Heart Disease on Renal Function in Childhood

Background: Nephropathy is a well-known complication of congenital heart disease (CHD), and the risk of developing renal impairment is particularly high in patients with cyanotic CHD. Most investigations of renal impairment in CHD have involved patients 20 years and older. This study investigated renal tubule function in pediatric patients with CHD, and compared findings in cyanotic and acyanotic groups. Methods: Twenty children with acyanotic CHD, 23 children with cyanotic CHD, and 13 healthy children were enrolled. Blood and early morning urine samples were collected from each subject to measure urinary concentrations of sodium, microalbumin, creatinine, β2-microglobulin, and N-acetyl-β-D-glucosaminidase (NAG). Results: The age and sex distributions in the three groups were similar. Median fractional excretion of sodium (FeNa) and urinary NAG/creatinine were significantly higher in the cyanotic group than in the control group (p = 0.022 and p = 0.002, respectively). There were no statistically significant differences among the groups with respect to urinary β2-microglobulin/creatinine, urinary microalbumin/creatinine or glomerular filtration rate. Conclusion: Tubular injury can be detected before glomerular injury occurs even within the first decade of life in patients with cyanotic CHD.

A family with Jeune syndrome.

Abstract  Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. We report a family that exhibited clinically heterogeneous features of Jeune syndrome. The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophthisis was the cause of the patient’s kidney failure,and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrome was also established for the proband’s older sister, who haddied of renal failure at 8 years of age. The oldest female child in the family alsohad thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demonstrate the clinical heterogeneity of Jeune syndrome and underline the association of renal disease with this syndrome.

Thrombosis in children with cardiac pathology : analysis of acquired and inherited risk factors

The present study was conducted to analyze the features and risk factors of childhood thrombotic events in patients with cardiac defect followed-up at our hospital. The clinical and laboratory findings of 59 patients diagnosed with cardiac defects and thromboses between 1997 and 2006 were retrospectively analyzed. Thirty-one children (52.5%) had venous system thromboses, 21 (35.6%) had arterial system thromboses, and seven (11.9%) had venous and arterial system thromboses. Presence of congenital heart disease and cardiomyopathy (CMP) were significant risk factors for developing intracardiac thrombosis. In addition, presence of congenital heart disease was the significant statistical risk factor for developing left atrium and right ventricle thromboses. Presence of congenital heart disease was a significant risk factor for developing a central nervous system thrombosis. Presence of pulmonary stenosis and aortic coarctation were significant risk factors for developing a peripheral arterial system thrombosis. Acquired risk factors including major surgery, angiography, central venous catheter, systemic infection, and hypoxia were identified in 49 of the 59 patients. Many patients had more than one of these acquired risk factors. Analysis of the relationship between thrombosis and type of major surgery demonstrated a statistically significant relationship between an intracardiac thrombosis and total correction of tetralogy of Fallot and a peripheral venous system thrombosis and a Blalock Taussig shunt. Twenty-three of the 52 patients (44.2%) had at least one thrombophilic mutation. Overall, a heterozygous factor V Leiden mutation was found in nine patients (17.3%), a methylenetetrahydrofolate reductase 677C-T mutation in 15 patients (28.8%), and a PT 20210G-A mutation in three patients (5.8%). Our data suggest that cardiac defects are common risk factors for developing a childhood thrombosis. The type of disorder determines the site of thrombosis. Acquired risk factors may contribute to the development of a thrombosis. The results of this study also indicate that to ensure early diagnosis, routine screening for thrombosis should be performed in patients with a cardiac defect and that screening for factor V Leiden and PT 20210G-A mutations and other genetic risk factors should be included when assessing all patients with cardiac defects who present with a thrombosis, whether or not a predisposing factor has been identified.

Assessment of left ventricular diastolic function by Doppler tissue imaging in children with end-stage renal disease

AIM To evaluate left ventricular (LV) diastolic function in children with end-stage renal disease (ESRD) using conventional pulsed-Doppler echocardiography and Doppler tissue imaging (DTI), and to compare the findings with these two modalities. METHODS Twenty-four children with ESRD and 22 healthy age- and sex-matched control subjects were assessed with conventional Doppler echocardiography and DTI. The scans of the renal disease patients were done after a dialysis session. Parameters related to LV systolic and diastolic function were compared in the ESRD and control groups. RESULTS The ESRD patients had lower mean mitral E/A ratio both according to conventional Doppler echocardiography and TDI than the control subjects. The ESRD group also had significantly longer isovolumetric relaxation time (116+/-31 ms vs 97+/-3.1 ms, respectively; p<0.001), and significantly longer deceleration time (235+/-44 ms vs 202+/-35 ms, respectively; p<0.01) than the control group. CONCLUSION DTI findings correlate well with conventional Doppler echocardiography findings. Children with ESRD show, after dialysis, echocardiographic signs of LV diastolic dysfunction.

Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement

A 14‐year‐old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life‐threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery. Copyright

Cardiac evaluation of pediatric liver transplantation candidates

PATIENTS with cirrhosis of the liver may have a number of cardiovascular abnormalities, including latent cardiomyopathy, hyperdynamic circulation, and arteriovenous (AV) communications causing arterial hypoxemia. Liver transplantation is the treatment of choice for end-stage liver disease. In children, inherited metabolic disorders rank second behind biliary atresia in the indications for orthotopic liver transplantation (OLT). Cardiac involvement may be a component of certain metabolic diseases that are treated with liver transplantation, namely, oxalosis, glycogen storage disease types III and IV, Gaucher’s disease, Niemann-Pick disease, Wilson’s disease, and neonatal iron storage disease. Preoperative cardiac evaluation of pediatric OLT candidates may predict and prevent complications after transplantation. Although several clinical studies have assessed cardiac function in adults with cirrhosis, the English literature contains very little information about this in children. This study retrospectively evaluated cardiac function and cardiovascular abnormalities in pediatric OLT candidates with cirrhosis due to different causes.

Ictal electrocardiographic changes in children presenting with seizures

Background:  The aim of this study was to determine electrocardiographic changes in children during seizures.

Fenestration Between the Left Atrial Appendage and Left Superior Vena Cava in Kawashima Operation

The benefits of a baffle fenestration in essentially high-risk Fontan patients have been demonstrated. Described here is the use of a new fenestration between the left atrial appendage and the left superior vena cava after Kawashima operation in a patient with a double-outlet right ventricle with hypoplastic left ventricle, left atrial isomerism, bilateral superior vena cavae with no bridging vein, an interrupted inferior vena cava, and continuation of the hemiazygos vein to the left superior vena cava.