Utku Arman Örün

Regression of Symptomatic Multiple Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex in a Newborn Receiving Everolimus

UNLABELLED Cardiac rhabdomyoma is the most common primary cardiac tumor, is considered to be a hamartoma of developing cardiac myocytes. Cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) in 50-86% of cases. Mutations in TSC-1/TSC-2 genes result in increased mammalian target of rapamycin (mTOR) pathway activation responsible for the hamartomatous lesions of tuberous sclerosis complex. Therapy with mTOR inhibitors is currently under investigation as a treatment option for tumors associated with TSC. In this report we present a case with multiple symptomatic rhabdomyomas associated with tuberous sclerosis complex, deemed to be ineligible for surgical removal, treated with everolimus (mTOR inhibitor). CONCLUSION As we observed in our patient, in cases with inoperable symptomatic rhabdomyomas associated with TSC, everolimus, an mTOR inhibitor, may be the treatment of choice, which should be confirmed with additional studies.

Ventricular non-compaction in children: clinical characteristics and course

Isolated left ventricular non-compaction (LVNC) is a rare cardiomyopathy characterized by prominent trabeculations and deep intratrabecular recesses. In this study, we aimed to identify the clinical characteristics of children with ventricular non-compaction and determine the factors affecting prognosis. We retrospectively evaluated 29 children with LVNC followed at Dr. Sami Ulus Children Hospital Pediatric Cardiology Department from December 2004 to November 2009. There were 13 females (45%) and 16 males (55%) and the mean age at presentation was 4.8±4.6 years (one month-15 years). Although there was no statistical significance; early presentation age and high left ventricular end-diastolic diameter at the diagnosis were associated with poorer prognosis.

Gastrointestinal system malformations in children are associated with congenital heart defects

OBJECTIVE To determine the frequency of congenital heart defects (CHD) in children with gastrointestinal malformations (GISM) and mortality rates in patients with GISM. METHODS Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. RESULTS Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8%) were male and 107 (44.2%) were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%), atresia involving stomach, ileum or colon (21%) and esophageal atresia/tracheoesophageal fistula (18.3%). Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9%) a, ventricular septal defect (17 patients, 24.6%) and patent ductus arteriosus (5 patients, 7.2%). There was no significant difference (p>0.05) in mortality rate in patients with CHD (16.7%) and without CHD (13.3%) undergoing operations for GISM. CONCLUSION We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

An evaluation of heart rate variability and its modifying factors in children with type 1 diabetes

OBJECTIVE To evaluate heart rate variability by Holter monitoring in type 1 diabetic children compared with a healthy control group and determine the factors modifying heart rate variability. METHODS This was designed as a prospective study comparing 28 patients, diagnosed with type 1 diabetes and under follow-up, with 27 healthy control group subjects. RESULTS The patients were aged 9.9 ± 4.2 years in the diabetic group, including 13 (46.5%) girls and 15 (53.5%) boys. The healthy control group comprised 20 (74%) girls and seven boys (26%) with an average age of 8.6 ± 3.7 years. The search for factors modifying heart rate variability yielded the following correlations: for the time-dependent variables, negative between age and both average and maximal heart rate (r = -0.263 and -0.460, respectively), negative between haemoglobin A1c and percentage of differences between adjacent RR intervals >50 ms, positive between diabetes duration and square root of the mean of the sum of squares of differences between adjacent NN intervals. The average heart rate and percentage of differences between adjacent RR intervals >50 ms was significantly higher in the girls than the boys in all groups. With regard to the frequency-dependent factors affecting heart rate variability, correlations were found between haemoglobin A1c level and both total power and very low frequency (r = -0.751 and -0.644) and between very low frequency and diabetes duration. CONCLUSION A reduction in heart rate variability parameters was observed in type 1 diabetes mellitus patients who had a long disease duration or were poorly controlled, as compared with healthy controls.

The diameter of coronary arteries in healthy newborns at birth, 1 and 6 months of ages

Objective: The aim of this study was to determine accurate and validated Z-score equations for the normal values of coronary diameters adjusted with growth changes of the neonates by testing three different time periods. Methods: Echocardiography was performed on 200 healthy neonates at birth, 1 and 6 months of ages. Several regression models for the left (LCA) and right coronary artery (RCA) diameters were tested with weight, height, body surface area and aortic annulus diameter. Reliable standards for the coronary artery diameters for healthy newborns by determining Z-score equations with appropriate statistical validations were established. Results: The coronary diameters on birth measurements were strongly correlated with birth weight, height, surface area and the diameter of the aortic annulus (Pearson’s R > 0.8, all p < 0.01). There were significant associations between the mean data of weight, height, body surface area, aortic annulus and the LCA and RCA diameters measurements of study subjects at birth, 1 and 6 months of ages (p < 0.05). Z-score graphs of coronary artery diameters and weight of the subjects at three different time (LCA vs. weight at birth, R = 0.82, p < 0.001; LCA vs. weight at 1 month, R = 0.64, p < 0.001; LCA vs. weight at 6 months, R = 0.55, p < 0.001; RCA vs. weight at birth, R = 0.80, p < 0.001; RCA vs. weight at 1 month, R = 0.59, p < 0.001; RCA vs. weight at 6 months, R = 0.49, p < 0.001) were constructed. Conclusion: We present a new set of equations for neonatal Z-score calculation on the basis of a large number of healthy neonates on three different time period consisting of birth, 1 and 6 months of ages. It is clear with this study that the growth in caliber of the coronary arteries is definite and progressive during postnatal time.

Subclinical left ventricular systolic and diastolic dysfunction in type 1 diabetic children and adolescents with good metabolic control

Cardiac dysfunction is a well‐known consequence of diabetes mellitus. This study was designed to assess whether type 1 diabetic children and adolescents with good metabolic control have early echocardiographic signs of subclinical left ventricular dysfunction and whether diabetes duration has any influence, using conventional and nonconventional echocardiographic tools.

Do toxic metals and trace elements have a role in the pathogenesis of conotruncal heart malformations

OBJECTIVE The aim of the present study was to determine the role of toxic elements and trace elements in the pathogenesis of conotruncal heart defects by measuring their concentrations in the first meconium specimens of the affected newborns. METHODS Concentrations of lead, cadmium, iron, zinc, and copper were measured in 1st-day meconium specimens that were collected from 60 newborns with conotruncal heart defects (Group I) and 72 healthy newborns (Group II). RESULTS The newborns with conotruncal defects and the healthy newborns had statistically similar demographic and clinical characteristics. When compared with healthy newborns, mean concentrations of lead, cadmium, iron, zinc, and copper were significantly higher in newborns with conotruncal heart defects (p=0.001 for each). In total, 51 newborns with conotruncal heart defects had normal karyotype. These newborns had significantly higher concentrations of lead, cadmium, iron, zinc, and copper when compared with healthy newborns. There were significant and positive correlations between the concentrations of lead and cadmium (r=0.618, p=0.001), lead and iron (r=0.368, p=0.001), lead and zinc (r=0.245, p=0.005), lead and copper (r=0.291, p=0.001), cadmium and iron (r=0.485, p=0.001), cadmium and zinc (r=0.386, p=0.001), and cadmium and copper (r=0.329, p=0.001). CONCLUSION Toxic metals and trace elements may disturb DNA repair mechanisms by impairing DNA methylation profiles, and thus have a role in the pathogenesis of conotruncal heart defects.

Assessment of left ventricular functions with tissue Doppler, strain, and strain rate echocardiography in patients with familial Mediterranean fever.

Objective: This study assessed the early changes in regional and global systolic and diastolic myocardial functions in patients with familial Mediterranean fever without any cardiovascular symptoms using tissue Doppler and strain and strain rate echocardiography and compared them to the results of a control group. Methods: This study has a cross-sectional and observational design. FMF patients with normal left ventricular function were included in the study. We excluded patients who had arrhythmia, acquired/congenital heart disease, pericarditis, or acute attack. We compared 45 children with familial Mediterranean fever on colchicine therapy and 45 age- and sex-matched healthy children. Results: The 45 patients with familial Mediterranean fever included 24 (55.3%) girls and 21 (46.7%) boys with a mean age of 11.3±3.7 (range 2-18) years. The mean disease duration was 4.6±2.4 (range 0.5-10) years. In the patient group, the homozygous M694V mutation was the most common (64.4%) mutation. The patients with familial Mediterranean fever had statistically lower longitudinal global strain, radial global strain, and strain rates (-14.44±4.77%, 14.80±6.29%, and 0.59±0.24 s, respectively) than the controls (-17.40±1.79%, 17.53±4.63%, and 0.83±0.51 s) (p<0.05). The circumferential global strain did not differ significantly between the groups. Conclusion: Patients with familial Mediterranean fever who are subclinical from a cardiac aspect might have normal left ventricular function as measured by conventional echocardiography. However, the disease affects their myocardial tissue, and these patients should be followed with conventional, strain, and strain rate echocardiography techniques regularly.

Congenital Right Pulmonary Artery Agenesis with Atrial Septal Defect and Pulmonary Hypertension

Unilateral pulmonary artery agenesis is a rare congenital anomaly caused by a backward displacement of the conical artery of the truncus arteriosus. It is commonly associated with additional cardiovascular abnormalities. A 7-year-old girl was admitted to our clinic with the complaint of shortness of breath upon exertion. Chest radiography revealed a hypoplastic right lung. Absence of the right pulmonary artery with atrial septal defect and pulmonary hypertension was demonstrated by echocardiography, computed tomography, and cardiac catheterization. Bosentan is effectively used to treat pulmonary arterial hypertension.

Carmi syndrome with congenital heart defects

Carmi Syndrome With Congenital Heart Defects Mustafa Aydin,* Aysegul Zenciroglu, Ayhan Yaman, Utku Arman Orun, Nilufer Arda, Asuman Gurkan Colak, Nurullah Okumus, Mehmet Sah Ipek, and Serdar Ceylaner Department of Neonatology, Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey Department of Pediatric Cardiology, Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey Department of Pathology, Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey Department of Dermatology, Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey Intergen Genetic Disease Diagnostic Center, Ankara, Turkey