Vehbi Doğan

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.

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.

Massive Pericardial Effusion and Tamponade Can Be a First Sign of Familial Mediterranean Fever

Abstract Cardiac involvement is a rare initial presentation of familial Mediterranean fever (FMF). We described 2 children with massive pericardial effusion and cardiac tamponade, who were later diagnosed as having FMF based on clinical and laboratory findings. Therefore, in children presenting with massive pericardial effusion, FMF should be considered as one of the differential diagnoses. In addition, massive pericardial effusion is a serious clinical condition that requires emergency therapeutic approach including pericardiocenthesis. For medical treatment, colchicine is the first line therapy, but in resistant cases, other anti-inflammatory drugs can be used for extra anti-inflammatory effect.

Evaluation of the epidemiological findings of acute rheumatic fever between 1981 and 2012

Background: The aim of this study was to determine the incidence of acute rheumatic fever (ARF) in Turkish children. Material and Methods: Our data was collected from the population and hospital based studies in Turkey between 1981 and 2012. We examined 12 studies reported from Turkey between these dates. Results: Between 1981-1990, 1991-2000, 2001-2012; 573, 1677, 1688 patients had been followed up, respectively. In these three periods of follow up time carditis was observed in (51, 62 and 71% of patients), arthritis in (67, 68, 56% of patients), Sydenhams chorea in (13, 13 and 13% of patients) and erythema marginatum in (2, 0.1, 1% of patients), respectively. Between 1981-1990, 1991-2000 and 2001-2012 the incidence of ARF was detected 1.1/100.000, 2.6/100.000 and 2.3/100.000, respectively. Conclusion: While ARF incidence in Turkey had remained at a constant rate until 1980, a rapid decline occurred after this time, and this decline remained almost unchanged until 2012.

Persistent left superior vena cava accompanying congenital heart disease in children: Experience of a tertiary care center

This study focuses on determining concomitant persistent left superior vena cava (SVC) in patients with congenital heart disease (CHD).

A case with atrophic autoimmune thyroiditis-related hypothyroidism causing multisystem involvement in early childhood

The most common reason of acquired hypothyroidism is autoimmune (Hashimoto) thyroiditis. Autoimmune thyroiditis can be atrophic or goitrogenic. Atrophic autoimmune thyroiditis (ATT) related acquired hypothyroidism causes interruption of growth, obesity, and bone age retardation in early ages while goitrogenic thyroiditis has a higher incidence rate and mostly presents with diffuse goiter. We discuss the effects of hypothyroidism on various systems through a case found to have pericardial effusion during the echocardiography performed after cardiac murmur was detected and later diagnosed with ATT related hypothyroidism.

A case of tracheal bronchus associated with right aortic arch and partial anomalous pulmonary venous connection

Tracheal bronchus includes a variety of bronchial anomalies arising in the trachea or main bronchus and directed toward the upper-lobe territory. Reported incidence varies from 1-3% in the pediatric population. It is generally associated with other congenital malformations, including costovertebral anomalies, congenital airway and lung anomalies, vascular anomalies, and congenital heart defects. Presently described was the case of a 14-year-old female with tracheal right-upper-lobe bronchus, right aortic arch with mirror image, and abnormal left upper pulmonary venous return to innominate vein.