Senem Özgür

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.

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.

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.

A case of congenital abdominal aortic aneurysm complicated with bilateral renal arterial and venous thromboses after surgery.

1Department of Neonatology, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey; 2Department of Radiology, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey; 3Department of Cardiovascular Surgery, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey; 4Department of Pediatric Cardiology, Dr Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey; 5Department of Pediatric Cardiology, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey

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.

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.

Ivabradine is an effective antiarrhythmic therapy for congenital junctional ectopic tachycardia-induced cardiomyopathy during infancy: Case studies: ERGUL et al.

Junctional ectopic tachycardia (JET) is a rare form of arrhythmia that is most commonly seen during infancy. JET is continuous and incessant, characterized by persistently high heart rates that may result in impaired cardiac function and tachycardia‐induced cardiomyopathy. Despite the availability of multiple antiarrhythmic treatments, including flecainide and amiodarone, management of JET is generally very difficult. Catheter ablation has a high risk of atrioventricular block and it may require the placement of a pacemaker. Ivabradine, also known as a cardiac pacemaker cell inhibitor, is a new‐generation antiarrhythmic used to treat sinus tachycardia and angina pectoris in adult patients. In this article, we present three cases of subjects with infantile congenital JET who were admitted to our clinic with a tachycardia‐induced cardiomyopathy. The age of the subjects ranged from 52 days to 10 months. Although the cases of tachycardia could not be controlled by multiple antiarrhythmics, including a combination of amiodarone and flecainide combined with either propranolol or digoxin, they were rapidly converted into sinus rhythm with an ivabradine treatment of 0.1–0.2 mg/kg/day. No cardiac or other side effects were observed during ivabradine treatment, and left ventricular functions and rhythms improved within 24 hours. These three cases therefore provide hope that ivabradine may be a suitable standard initial treatment for congenital JET. However, additional research is needed to confirm the validity of these results in other circumstances.