Selmin Karademir

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.

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.

Cardiac MRI and 3D contrast-enhanced MR angiography in pediatric and young adult patients with Turner syndrome

BACKGROUND/AIM This study aimed to describe the spectrum and frequency of cardiovascular abnormalities in pediatric and young adult patients with Turner syndrome (TS) using cardiac MRI and MR angiography. MATERIALS AND METHODS This prospective study consisted of 47 female patients of pediatric age and young adults with a karyotypically confirmed diagnosis of TS. All patients underwent cardiac MRI and contrast-enhanced MR angiography. A second examination after 9-26 months was performed for 28 of these patients. RESULTS Elongation of the transverse aortic arch (ETA) was the most frequent abnormality with a rate of 37%. The rate of partial anomalous pulmonary venous connection (PAPVC) was 21.7%, bicuspid aortic valve (BAV) was 19.6%, coarctation was 6.5%, ascending aorta dilatation was 28.3%, and descending aorta dilatation was 15.2%. The diameters of the aorta and the rate of aortic dilatation per unit of time was greater in the patients with BAV (P < 0.05). ETA was less observed in the patients who were receiving growth hormone therapy (P < 0.05). CONCLUSION The most common cardiovascular abnormalities in TS patients are aortic arch anomalies such as ETA and coarctation, aortic dilatation, PAPVCs, and BAV. The presence of BAV is an important risk factor for the aortic dilatation.

Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs

Abstract Objective: In the present study, it was aimed to investigate the concomitance of additional cardiac problems, mainly mitral valve prolapse, in adolescents and pediatric patients with Hashimoto’s thyroiditis, by screening autoimmune markers. Materials and methods: Fifty-seven euthyroid patients, who applied to the Pediatric Endocrinology clinic at our institution with marked symptoms of hypothyroidism at the time of diagnosis, and were diagnosed and treated for Hashimoto’s thyroiditis, were included in the present study. All patients were evaluated by performing non-organ specific autoantibodies which could be tested at our institution, thyroid ultrasonography, two-dimensional echocardiography, and 24-h holter monitorization. Results: Of the 57 cases with Hashimoto’s thyroiditis, 48 (84.2%) were female, and nine (15.8%) were male. In the echocardiographic evaluation, mitral valve problems were detected in 10 (17.5%) of all cases; mitral valve prolapse was diagnosed in eight (seven females and one male) cases, and mitral insufficiency was diagnosed in two female cases. First-degree atrioventricular block was observed in only two patients during 24-h holter monitorization. Different non-organ specific autoantibody positivity was distributed as antinuclear antibody in 15 (26.3%) cases, anticardiolipin IgG in two cases, anticardiolipin IgM in three cases, tissue transglutaminase IgA in one, glutamic acid decarboxylase in one, anti-insulin antibody in four cases, antiphospholipid IgG in one, and antiphospholipid IgM in one case. Conclusion: It should be underlined that patients with Hashimoto’s thyroiditis should to be followed up closely for mitral valve prolapse and accompanying autoimmune diseases.

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.

Sensitive Cardiac Troponins: Could They Be New Biomarkers in Pediatric Pulmonary Hypertension Due to Congenital Heart Disease?

To analyze the role of sensitive cardiac troponin I (scTnI) and high-sensitive troponin T (hscTnT) in the determination of myocardial injury caused by volume and pressure load due to pulmonary hypertension (PH) and to investigate if these markers may be useful in the management of PH in childhood. Twenty-eight patients with congenital heart disease (CHD) with left to right shunt and PH, 29 patients with CHD with left to right shunt but without PH, and 18 healthy children, in total 75 individuals, were included in the study. All cases were aged between 4 and 36 months. Echocardiographic evaluation was performed in all cases, and invasive hemodynamic investigation was performed in 33 cases. Blood samples were obtained from all cases, for the measurement of brain natriuretic peptide (BNP), pro-brain natriuretic peptide (pro-BNP), sensitive cardiac troponin I (scTnI), and high-sensitive troponin T (hscTnT) levels. The mean BNP, pro-BNP, scTnI, and hsTnT levels were statistically significantly higher in patients with PH than in the patients without PH (p < 0.001). A statistically significant positive correlation was determined between pulmonary artery systolic pressure and scTnI and hscTnT levels (r = 0.34 p = 0.01, r = 0.46 p < 0.001, respectively) levels. Pulmonary hypertension determined in congenital heart diseases triggers myocardial damage independently of increased volume or pressure load and resistance, occurring by disrupting the perfusion via increasing ventricular wall tension and the myocardial oxygen requirement. Serum scTnI and hscTnT levels may be helpful markers to determine the damage associated with PH in childhood.