Thrombosis of isolated ductus arteriosus aneurysm in a newborn.

Congenital aneurysm of the ductus arteriosus is reported in 0.8% in neonatal autopsies; however, true incidence is unknown because of high rate of asymptomatic cases and spontaneous regression. Possible complications in symptomatic cases are thromboembolism, spontaneous rupture, erosion, infection, compression of airways, and death. In this report, we present a newborn with giant ductus arteriosus aneurysm (DAA) diagnosed in first day of life, surgically treated after thrombosis of aneurysm.

Transcatheter radiofrequency pulmonary valve perforation in newborns with pulmonary atresia/intact ventricular septum: Echocardiographic predictors of biventricular circulation.

OBJECTIVE: We report a single-institute experience of neonatal transvenous radiofrequency pulmonary valve perforation for pulmonary atresia/intact ventricular septum, with echocardiographic predictors of biventricular circulation. METHODS: Data were reviewed retrospectively for all neonates who underwent primary transvenous pulmonary valve perforation for pulmonary atresia/intact ventricular septum between January 2008 and November 2018 at our institution. We compared patients who need systemic-to-pulmonary shunt or ductal stenting with patients who did not need. RESULTS: During the study period, 31 patients with pulmonary atresia/intact ventricular septum underwent successful radiofrequency pulmonary valve perforation and balloon dilation of the pulmonary valve. There was no procedure-related mortality. Sixteen patients (52%) needed systemic-to-pulmonary shunt or ductal stenting after initial procedure. Among the survivors (follow-up time of 1 to 11.5 years), 15 patients had a biventricular circulation and 6 patients had 1 and 1/2 ventricular circulation. Two patients are awaiting for Fontan operation. Both the TV/MV annulus ratio (>0.85) and tricuspid valve z-score (>-1) were found to be a good predictor of a biventricular outcome in our cohort. CONCLUSIONS: Percutaneous radiofrequency pulmonary valve perforation and balloon valvotomy is an effective and safe primary treatment strategy for neonates with pulmonary atresia/intact ventricular septum. Ductal stenting or systemic-to-pulmonary shunt may be required in the majority of patients who had smaller right heart components. Preselection of patients according to tricuspid valve z-score and TV/MV annulus ratio allows predicting biventricular circulation.

Tricuspid annular plane systolic excursion and mitral annular plane systolic excursion cardiac reference values in 1300 healthy children: Single-center results.

BACKGROUND: Tricuspid annular plane systolic excursion (TAPSE) and mitral annular plane systolic excursion (MAPSE) are two echocardiographic parameters which provide reliable information about the longitudinal myocardial functions of the right and left ventricles in both adult and pediatric population. The aim of this study was to determine the TAPSE and MAPSE reference values in healthy children aged 0-18 years. METHODS AND RESULTS: This prospective study included 1300 healthy children evaluated with two-dimensional echocardiography. In addition to routine echocardiographic examination, the right and left ventricular systolic functions were assessed by TAPSE and MAPSE measurements. Statistical analyses were carried out in the groups of subjects stratified according to age and body surface area. The mean and standard deviation values and z-scores of TAPSE and MAPSE were developed in each group. CONCLUSIONS: The determination of reference values for TAPSE and MAPSE in healthy children will be of guidance in the evaluation of both healthy children and those with congenital or acquired heart diseases in which the right and left ventricular systolic functions are affected. The reference values obtained will contribute to the clinical practice and the future studies.

Evaluation of long-term cardiac side effects of anthracycline chemotherapy by conventional and non-conventional echocardiographic methods in childhood cancer survivors.

OBJECTIVE: Anthracycline chemotherapeutic agents carry the well-recognised risk of cardiac toxicity. The aim of this study was to determine the long-term effect of anthracycline chemotherapy on the biventricular function in childhood cancer survivors using tissue Doppler imaging and two-dimensional speckle tracking echocardiography. PATIENTS AND METHODS: The study included 45 survivors of childhood cancers and 50 healthy age-matched control patients. Cardiac function was prospectively studied with conventional echocardiography, tissue Doppler imaging, and speckle tracking echocardiography after completion of treatment. The same analysis was performed on matched controls. RESULTS: There was no difference in age, gender, height, and weight between the study and control groups. The mean anthracycline dose was 240 ± 106 mg/m2 and the mean remission duration was 8.2 ± 5 years (1-20 years) in the study group. Conventional echocardiography showed similar ejection fraction, shortening fraction, and left ventricle end-diastolic diameter in both groups. Mitral lateral and septal tissue Doppler imaging showed normal but according to control group relatively sub-normal systolic and diastolic function in patient group. The global longitudinal and circumferential strain and strain rates were significantly lower in the patient group compared to control group. Correlation analysis revealed a negative and significant correlation between total anthracycline dose and global longitudinal and circumferential strain and strain rates. CONCLUSION: Sub-clinical systolic and diastolic dysfunction may not be detected by conventional echocardiographic methods which are frequently used in daily practice. Sub-clinical systolic and diastolic dysfunction may be detected more sensitively by echocardiographic method such as speckle tracking echocardiography in childhood cancer survivors.

Should we start a nationwide screening program for critical congenital heart disease in Turkey? A pilot study on four centres with different altitudes.

BACKGROUND: To investigate the feasibility of critical congenital heart disease (CCHD) screening test by pulse oximetry in four geographical regions of Turkey with different altitudes, before implementation of a nationwide screening program. METHODS: It was a prospective multi-centre study performed in four centres, between December, 2015 and May, 2017. Pre- and post-ductal oxygen saturations and perfusion indices (PI) were measured using Masimo Radical-7 at early postnatal days. The results were evaluated according to the algorithm recommended by the American Academy of Pediatrics. Additionally, a PI value <0.7 was accepted to be significant. RESULTS: In 4888 newborns, the mean screening time was 31.5 ± 12.1 hours. At first attempt, the mean values of pre- and post-ductal measurements were: saturation 97.3 ± 1.8%, PI 2.8 ± 2.0, versus saturation 97.7 ± 1.8%, PI 2.3±1.3, respectively. Pre-ductal saturations and PI and post-ductal saturations were the lowest in Centre 4 with the highest altitude. Overall test positivity rate was 0.85% (n = 42). CCHD was detected in six babies (0.12%). Of them, right hand (91 ± 6.3) and foot saturations (92.1 ± 4.3%) were lower compared to ones with non-CCHD and normal variants (p <0.05, for all comparisons). Sensitivity, specificity, positive and negative predictive values, and likelihood ratio of the test were: 83.3%, 99.9%, 11.9%, 99.9%, and 99.2%, respectively. CONCLUSION: This study concluded that pulse oximetry screening is an effective screening tool for congenital heart disease in newborns at different altitudes. We support the implementation of a national screening program with consideration of altitude differences for our country.

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

BACKGROUND: This study focuses on determining concomitant persistent left superior vena cava (SVC) in patients with congenital heart disease (CHD). METHODS: Between 2005 and 2012, a total of 2.663 patients with CHD, 88 (3.3%) of whom were diagnosed with persistent left SVC, were evaluated retrospectively. The demographic characteristics of patients, clinical and radiographic findings, echocardiography, cardiac catheterization, and angiography results obtained from the patients' records were reviewed. RESULTS: The median age of the patients was 9.5 months, and 46 of the 88 (52.3%) patients were female. The most common concomitant CHD were ventricular septal defect, double outlet right ventricle (DORV), and tetralogy of Fallot (TOF). When the patients were compared according to their CHD, persistent left SVC frequency was significantly higher in those with DORV (P<.001), TOF (P=.04), patent ductus arteriosus (P=.01), and atrial septal defect (P=.03). Eighty-three of the 88 (94.3%) patients with persistent left SVC had right SVC, and 5 (5.7%) had absence of the right SVC. Twenty-seven of the 83 (32.5%) patients with double SVC had connected normal innominate vein. In all cases, right aortic arch association was seen in 14 (15.9%) patients. Eighty-four (95.4%) of the patients were diagnosed by echocardiography prior to catheter angiography. Persistent left SVC drained to the coronary sinus in all cases. CONCLUSION: Increased awareness about the association of certain CHD with persistent left SVC and a careful echocardiographic examination can facilitate the diagnosis of persistent left SVC. In addition, precise prior diagnosis of persistent left SVC can prevent complications during surgery.

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

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.

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.

A rare association: inferior vena cava anomalies and congenital heart diseases.

The numerous variations of abnormalities of the inferior vena cava (IVC) result in anomalies such as isolated left IVC, double IVC and more than 60 types of malformation. These anomalies are rare and recognized incidentally during surgical or radiological procedures. They may lead to clinical complications during abdominal surgery, and predispose to venous thrombosis. Although they have no definite relationship to other congenital cardiac lesions, identification of these anomalies are important for pre-operative planning and post-operative follow-up. This report presents two cases of congenital IVC anomalies accompanied by congenital heart diseases.

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.

Double outlet right ventricle with intact ventricular septum.

Double outlet right ventricle is a cardiac malformation in which both the aorta and pulmonary artery arise from the right ventricle. A double outlet right ventricle with intact ventricular septum is extremely rare. A nine-day-old boy born at 38 weeks with a birth weight of 3200 g was referred due to cyanosis and murmur. The history of the patient was nonsignificant. On the physical examination, oxygen saturation of the patient on room air was 84%, and cardiac activity and a 2/6 systolic murmur at the right sternal border were found. On electrocardiography, deep q's were determined in D2, D3, and aVF. On echocardiography, left atrial isomerism, dextrocardia, wide, high venosum atrial septal defect, double outlet right ventricle with intact ventricular septum, malposition of the great arteries, and moderate pulmonary stenosis were observed. Catheter angiography was performed for diagnostic confirmation. Herein, a newborn with cyanosis and murmur diagnosed as double outlet right ventricle with intact ventricular septum is reported.

Isolated mitral valve aneurysm in a 9-year old boy.

BACKGROUND: Isolated mitral valve aneurysm is rarely reported in children. In most cases it is associated with an underlying disease such as infective endocarditis. MVA can lead to severe complications that needs surgical intervention. CASE: In this report, we present a 9-year old asymptomatic male patient with anterior mitral valve aneurysm and rhythm disturbance diagnosed incidentally during pre-operative evaluation. CONCLUSIONS: Being rare in children, isolated MVA should be kept in mind in the differential diagnosis of mass lesions seen on the atrial side of the mitral valve. A 24-hour electrocardiogram may define subtle rhythm disturbances in these patients.

Strain and strain rate echocardiography findings in children with asymptomatic congenital aortic stenosis.

The aim of our study was to evaluate myocardial functions with strain/strain rate echocardiography in asymptomatic patients having congenital aortic stenosis (CAS) with normal cardiac functions as determined by conventional echocardiographic techniques and comparing them with those of healthy controls. A total of 58 patients with various degrees of isolated CAS and 52 healthy controls were enrolled in this study. Conventional and two-dimensional speckle tracking (2DSTE) echocardiography were performed. Global longitudinal strain (LS) (-23.1 ± 3.6 and -23.8 ± 4.7), and longitudinal strain rate (LSR) (-1.49 ± 0.32 and -1.76 ± 0.39) values were lower, whereas circumferential strain (CS) (-25.9 ± 4.7 and -22.8 ± 6.4) and circumferential strain rate (CSR) (-1.82 ± 0.46 and -1.69 ± 0.49) values were greater in the patient group than in the control subjects. The difference was significant for global LSR and CS (p < 0.05) values. Regional analysis showed lower LS values in the basal part of the left-ventricular (LV) free wall and lower LSR values in the basal parts of both of the septum and free wall in the patient group (p < 0.05). CS values in the anteroseptal, posterior, and inferior walls were significantly greater in the patients (p < 0.05). 2DSTE detects subtle alterations in myocardial function in asymptomatic children with CAS. Impairment of LV long-axis function occurred earlier and was more prominent in basal parts of the interventricular septum and the free wall of the left ventricle.

Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia.

Despite advances in device closure for atrial septal defect, post-closure heart failure remains a clinical problem in adult patients but is seen only rarely in children. An eight-year-old boy, who had been followed by a local pediatrician with the diagnosis of diabetes mellitus and congenital heart disease, was consulted to us for cardiac re-evaluation. Electrocardiography demonstrated absent P waves, and echocardiography revealed enlargement of the right ventricle and both atria and secundum atrial septal defect. With the diagnosis of atrial standstill, secundum atrial septal defect and thiamine-responsive megaloblastic anemia, acute heart failure developed after transvenous closure of the atrial septal defect, which improved dramatically with thiamine and supportive treatment.

Acute rheumatic fever in the Central Anatolia Region of Turkey: a 30-year experience in a single center.

UNLABELLED: The study was carried out in Dr. Sami Ulus Children's Hospital to investigate and to compare the incidence and findings of acute rheumatic fever patients (ARF) seen in the past 30 years. The medical records of 1,115 patients with ARF admitted to Dr. Sami Ulus Children's Hospital Department of Pediatric Cardiology during 1980-2009 were retrospectively analyzed. Twenty-one percent of those patients were admitted between 1980 and 1989, 44.6% between 1990 and 1999, and 34.2% between 2000 and 2009. The highest incidence was detected in the second decade with a rate of 60.0:100,000. Male/female ratio was 1:18. The age of patients ranged between 2 and 15 years. Carditis was detected in 64.7% of patients, arthritis in 59.1%, and chorea in 14.1%. Mitral regurgitation was the most common echocardiographic finding. Heart failure was detected in 13.8%. Recurrent attacks occurred in 8.1% of patients. The median follow-up was 6.8 years (range, 1.2-10.5 years). The prevalence of chronic rheumatic valvular disease was 58%. Mortality rate was 0.8%. CONCLUSION: Although the incidence of ARF has decreased in the last decade, it still continues to be an important public health problem in Turkish pediatric population.

Prevalence of some risk factors in children with epilepsy compared to their controls.

AIM: The goal of this case-control study was to identify the significance of certain risk factors for epilepsy in Turkey. METHOD: A total of 805 cases, aged 1-16 years, followed-up for epilepsy at the Pediatric Neurology Department and a control group consisting of 846 age-matched cases without epilepsy were included in the study. The risk factors examined were gender, neurological impairment, febrile convulsion, head trauma, central nervous system infections, parental consanguinity, family history of epilepsy, prenatal and natal risk and newborn jaundice. Data regarding the investigated epilepsy risk factors were obtained through a questionnaire via personal interviews and the medical records and were assessed using univariate and multivariate analysis. RESULT: Univariate analysis showed an increased risk for epilepsy with a history of atypical febrile seizure (21.97-fold), severe and moderate head injury (27.76- and 7.09-fold respectively), CNS infection (4.76-fold), history of epilepsy in first-, second- or third-degree relatives (6.42-, 3.09- and 2.66-fold, respectively), presence of maternal hypertension (4.31-fold), an apgar score < or =6 at any time (7.78-fold) and neonatal jaundice (3.12-fold). Abnormal neurological signs increased the epilepsy risk 5.92 times in univariate analysis and 30.26 times in multivariate analysis. CONCLUSION: The most important risk factors for epilepsy in this study were neurological impairment, history of atypical febrile seizures, severe head injury and a low apgar score. Other important risk factors were moderate head trauma and a history of epilepsy in the family.

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.

Aneurysm of the muscular septum associated with Wolf-Parkinson-White syndrome presenting as dilated cardiomyopathy; A report of two cases.

Muscular septal aneurysms are extremely rare without a ventricular septal defect and are diagnosed accidentally in most cases. Reported cases generally have rhythm disturbance or electrocardiographic findings of Wolf-Parkinson-White (WPW) syndrome. Presently described are 2 cases of ventricular septal aneurysm associated with WPW syndrome, which presented as dilated cardiomyopathy. Pre-excitation disappeared gradually in first patient. There was also concurrent decrease in degree of bulging of the interventricular septum and improvement of left ventricular systolic function. Second patient had complaints of palpitation and was referred for ablation of accessory pathway. Our findings suggest that presence of pre-excitation may lead to ventricular dyssynchrony and abnormal ventricular septal movement, resulting in appearance of aneurysm.

Spontaneous echocardiographic contrast due to ductus venosus.

Spontaneous echocardiographic contrast is defined as a phenomenon of discrete reflections appearing in the cardiac chambers or great vessels. It has been associated with several conditions leading to microbubble formation or low blood flow. This is a report of a neonate with spontaneous echocardiographic contrast related to patent ductus venosus.

Symptomatic Fetal-Type Cardiac Rhabdomyoma.

Rhabdomyomas are the most common primary cardiac tumors, especially seen during early periods of childhood. Fetaltype rhabdomyoma is a benign tumor described almost always in extracardiac locations. Although the natural history of the cardiac rhabdomyoma is to regress, the behaviour of the fetal-type rhabdomyomas when present in the heart is unknown with respect to its infrequency. Herein, we report a hemodynamically unstable female neonate with a single large intra-cardiac mass unresponsive to medical treatment, who underwent surgery. The neonate could not survive the operation due to ventricular fibrillation. The mass was diagnosed as fetal-type cardiac rhabdomyoma on autopsy.