Left ventricular mechanics are affected in children with celiac disease: A study based on two-dimensional speckle tracking echocardiography.

BACKGROUND: An association between cardiomyopathy and celiac disease has been reported, but not frequently. We examined the effects on cardiac mechanics in children with celiac disease (CD) by two-dimensional speckle tracking echocardiography (2DSTE). METHODS: Eighty-one children with CD were compared with a control group comprising 51 healthy children by echocardiographic examination. Children with CD who had been on gluten-free diet for more than 6 months were divided into two different groups: group 1 was positive for serum antitissue transglutaminase antibody (n=48), and group 2 was negative for serum antitissue transglutaminase antibody (n=33). Cardiac functions were evaluated in all children using conventional echocardiography, tissue Doppler imaging (TDI), and 2DSTE methods. RESULTS: For children with CD, the mean age and male:female ratio were 10.1±4.0 years and 26/55 (67% female), respectively, which did not differ from the controls. Patients were diagnosed at a mean age of 7.9±4.1 years, and the mean follow-up time was 2.37±2.98 years. Conventional echocardiography and TDI measurements did not differ between groups. The left ventricular longitudinal and radial strains, and strain rate values were significantly lower in patients with CD, particularly in those with positive antitissue transglutaminase antibody compared with the control group. CONCLUSIONS: Our results suggest that 2DSTE is superior to conventional and TDI echocardiography for evaluating subclinical carditis in children with CD.

Effect of high-dose oral cholecalciferol on cardiac mechanics in children with chronic kidney disease.

Cardiovascular factors are an important cause of mortality in chronic kidney disease, and vitamin-D deficiency is common in this patient population. Therefore, we aimed to investigate the effect of oral cholecalciferol on cardiac mechanics in children with chronic kidney disease. A total of 41 children with chronic kidney disease - the patient group - and 24 healthy subjects - the control group - free of any underlying cardiac or renal disease with low 25-hydroxyvitamin-D3 levels were evaluated by conventional tissue Doppler imaging and two-dimensional speckle-tracking echocardiography, both at baseline and following Stoss vitamin-D supplementation. Left ventricular strain and strain rate values were compared between the study groups. Initial longitudinal and radial strain as well as strain rate values of the left ventricle were significantly lower in patients. After vitamin-D supplementation, these improved significantly in patients, whereas no significant change was observed in the control group. Our study showed that, although conventional and tissue Doppler imaging methods could not determine any effect, two-dimensional speckle-tracking echocardiography revealed the favourable effects of high-dose cholecalciferol on cardiac mechanics, implying the importance of vitamin-D supplementation in children with chronic kidney disease.

Subclinical Left Ventricular Longitudinal and Radial Systolic Dysfunction in Children and Adolescents with Type 1 Diabetes Mellitus.

INTRODUCTION: There are few studies of subclinical systolic dysfunctions in children and adolescents with type 1 diabetes mellitus (DM), and so the available data are limited. The aim of this study was to determine early echocardiographic signs of LV systolic dysfunction in children and adolescents with type 1 DM using two-dimensional speckle tracking echocardiography (2DSTE). MATERIAL AND METHODS: The study included 84 children and adolescents with type 1 DM and 32 sex-, age-, and body mass index-matched healthy subjects. The LV functions were assessed using conventional echocardiography, tissue Doppler imaging, and 2DSTE. RESULTS: The results showed LV diastolic dysfunction as reflected by significantly increased A-wave velocity, decreased E/A ratio, and increased early filling deceleration time in the patients with diabetes (P = 0.02, P = 0.029, and P = 0.04; respectively). Compared with the control group, patients with diabetes showed significantly lower values for longitudinal systolic strain and strain rate in most segments of the LV; for radial strain values of the LV; for lateral circumferential strain and posterior and anterolateral circumferential strain rate of the LV; and for global longitudinal and radial strain of the LV. Global longitudinal and radial strain values of the LV were significantly lower among patients with poor glycemic control than in the control group. CONCLUSION: In addition to diastolic dysfunction, LV longitudinal and radial function was found to be impaired in asymptomatic children and adolescents with type 1 DM who have normal LV ejection fraction by 2DSTE. Glycemic control may be the main risk factor for alteration of myocardial function.

Prevalence of overweight and obesity among patients with congenital and acquired heart disease in Kocaeli, Turkey.

BACKGROUND: Childhood obesity has increased in the last half of the century. The aim of this study was to evaluate the frequency of obesity in the children with congenital or acquired heart disease. METHODS: A total of 1410 children were assessed in this study. The study population was composed of 518 children (289 boys, 229 girls) as control group and 892 children (477 boys, 415 girls) as heart disease group. Patients were grouped into four categories: (I) "Clinic control subjects"; (II) "mild heart disease" that has not been treated with either surgical or catheter intervention; (III) congenital heart disease treated with surgical and/or catheter intervention; and (IV) "arrhythmias". A body mass index ⩾85th percentile was defined as overweight, ⩾95th percentile as obese, and <5th percentile was defined as underweight. RESULTS: We did not detect any association between heart disease and obesity. There was no difference in the rates of overweight, obesity, and underweight between the healthy control subjects and patients with heart disease (8.1%, 13.3%, and 5.0%; 9.0%, 10.7%, and 4.7%, respectively, p=0.145). All subgroups had a similar prevalence of underweight, overweight, and obesity as the healthy control population. Within the heart disease population, the overall prevalence rates for overweight, obesity, and underweight were similar between the boys and girls. CONCLUSION: Obesity is a common problem in children with heart disease, at least in general population. It is an important additional risk factor for long-term cardiovascular morbidity and mortality in children with heart disease. Precautions to prevent obesity should be a part of paediatric cardiologist's examination.

Effects that different types of sports have on the hearts of children and adolescents and the value of two-dimensional strain-strain-rate echocardiography.

Whether the hypertrophy found in the hearts of athletes is physiologic or a risk factor for the progression of pathologic hypertrophy remains controversial. The diastolic and systolic functions of athletes with left ventricular (LV) hypertrophy usually are normal when measured by conventional methods. More precise assessment of global and regional myocardial function may be possible using a newly developed two-dimensional (2D) strain echocardiographic method. This study evaluated the effects that different types of sports have on the hearts of children and adolescents and compared the results of 2D strain and strain-rate echocardiographic techniques with conventional methods. Athletes from clubs for five different sports (basketball, swimming, football, wrestling, and tennis) who had practiced regularly at least 3 h per week during at least the previous 2 years were included in the study. The control group consisted of sedentary children and adolescents with no known cardiac or systemic diseases (n = 25). The athletes were grouped according to the type of exercise: dynamic (football, tennis), static (wrestling), or static and dynamic (basketball, swimming). Shortening fraction and ejection fraction values were within normal limits for the athletes in all the sports disciplines. Across all 140 athletes, LV geometry was normal in 58 athletes (41.4 %), whereas 22 athletes (15.7 %) had concentric remodeling, 20 (14.3 %) had concentric hypertrophy, and 40 (28.6 %) had eccentric hypertrophy. Global LV longitudinal strain values obtained from the average of apical four-, two-, and three-chamber global strain values were significantly lower for the basketball players than for all the other groups (p < 0.001).

Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation.

We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.

Crossed pulmonary arteries: a report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities.

Crossed pulmonary arteries (CPAs) are a rare abnormality in which the ostium of the left pulmonary artery originates superior to the right pulmonary artery and to its right. Recognition of this rare pathology is important because it generally is accompanied by other congenital heart defects, extracardiac anomalies, and certain genetic problems. To date, only a few cases have been reported, and most of these cases have been associated with complex cardiac abnormalities. The authors detected 20 cases of CPA between June 2009 and November 2012 through their increasing awareness of this anomaly. Approximately 9,250 echocardiograms were performed during this period, and all of them also were checked for this anomaly. This report describes 20 cases of this CPA, with an emphasis on the clinical features and the genetic and cardiac abnormalities. The patients ranged in age from 1 day to 13 years at the time of the initial diagnosis. Four patients had complex cardiac pathologies such as tetralogy of Fallot, truncus arteriosus, transposition of the great arteries, and complete atrioventricular septal defect. Of the 20 patients, 11 had ventricular septal defects, and 12 had atrial septal defects. Pulmonary artery stenosis was detected in 12 (55 %) of the 20 patients. Aortic arch abnormalities such as interrupted aortic arch, right aortic arch, and coarctation of the aorta were detected in six patients. One patient had a left persistent superior vena cava. In 45 % of the cases, an associated genetic syndrome (DiGeorge-, Noonan-, Holt-Oram syndromes, vertebral, anal, cardiac, tracheal, esophageal, renal, limb anomalies [VACTERL] anomalies) was present. These syndromes were diagnosed based on their clinical features. Karyotype and fluorescent in situ hybridization (FISH) analyses for a 22q11 deletion were performed for 11 patients, with 10 patients found to have normal karyotype and FISH results. Only one patient had a 22q11 deletion. Six patients underwent successful operations. During the follow-up period, 3 of the 20 patients died. At this writing, the remaining patients are clinically stable and being followed without surgery. The authors believe that CPA is not a rare anomaly. If careful echocardiographic examination is performed, CPA will be diagnosed more frequently. Although this pathology usually is associated with genetic syndromes and other cardiac abnormalities, patients with CPA generally are asymptomatic.

Congenital left ventricular diverticulum associated with congenital ileo-jejunal atresia.

Congenital left-ventricular diverticulum (CVD) is a rare cardiac malformation. Echocardiography, magnetic resonance imaging, multislice computed tomography, and left-ventricular angiography are diagnostic tools. In this case report, we present a 5-month-old infant with CVD associated with congenital ileal atresia. The diverticulum appears to be of the left-ventricular type.

P-wave dispersion and heart rate variability in children with mitral valve prolapse.

Previous studies have reported that patients with mitral valve prolapse (MVP) may display autonomic dysfunction. Measurement of heart rate variability (HRV) and P-wave dispersion (PWD) may provide insights into the functional state of the autonomic nervous system. Heart rate variability (HRV) has been used as a noninvasive marker of autonomic activity. However, to the authors' knowledge, PWD has not been studied in the context of MVP. This study aimed to examine HRV and PWD in patients with MVP and to determine whether differences exist between symptomatic and asymptomatic patients. The study population consisted of 54 healthy children (17 boys and 37 girls) ages 6-18 years and 76 patients with MVP (20 boys and 56 girls) ages 6-18 years. The duration and dispersion of the P-wave were measured by surface 12-lead electrocardiograms (ECGs). Heart rate variability was quantified using both time-domain and frequency-domain analyses of Holter ECGs. The minimum duration of the P-wave was significantly lower in the MVP patients (42.4 ± 10.0 ms) than in the control subjects (54.4 ± 12.8 ms) (p < 0.01), and the PWD was significantly increased in the MVP group (42.7 ± 10.8 ms) compared with the control subjects (31.8 ± 10.9 ms) (p < 0.01). However, no significant differences were found between the symptomatic and asymptomatic patients. In addition, the HRV parameters were not statistically different between the two groups. In conclusion, although HRV parameters were not significantly different between the MVP and control groups, the findings show that PWD was increased for the children with MVP. However, no relationship could be established between PWD and clinical symptoms.

Management of an ascending aortic aneurysm associated with a bicuspid aortic valve and a coarctation in an adolescent.

Ascending aortic aneurysms are commonly associated with bicuspid aortic valves in adults but are rarely seen in childhood. We now report the management of an ascending aortic aneurysm in a 12-year-old male with an associated bicuspid aortic valve and a coarctation.

Echocardiographic and three-dimensional computed tomographic diagnosis of crossed pulmonary arteries: report of three cases.

Crossed pulmonary arteries are rare anomalies of the pulmonary trunk and its branches. In this anomaly, the ostium of the left pulmonary artery originates superiorly and to the right of the right pulmonary artery. This anomaly is usually associated with other congenital cardiac and extracardiac diseases. We report three neonates with congenital cardiac diseases who had this anomaly, which was detected first by echocardiography and then confirmed by cardiac three-dimensional computed tomography.

Hepatic adenomatosis in a 7-year-old child treated earlier with a Fontan procedure.

Patients who undergo a Fontan procedure experience some degree of liver disease. Hemodynamic changes such as central venous hypertension, depressed dynamic cardiac output, and late ventricular dysfunction combined with long-standing hypoxia preceding the Fontan procedure all are recognized risk factors for hepatic injury. The histopathologic changes associated with cardiac hepatopathy include chronic passive congestion, centrilobular necrosis, and cardiac cirrhosis. However, hepatic adenoma and hepatic adenomatosis (HA) are not well-known pathologies during the course of cardiac hepatopathy. This study focused on a 7-year-old girl with chronic hepatic changes and HA who had undergone a Fontan procedure. Hepatic adenomatosis was diagnosed on the basis of magnetic resonance imaging (MRI) and MRI-guided liver biopsy. To the best of the authors' knowledge, this case involved the youngest patient with hepatocellular adenomatosis documented in the literature. It was a unique case because the patient experienced HA after a Fontan procedure.

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.

Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. Mutations in the SLC19A2 gene, encoding a high-affinity thiamine transporter protein, THTR-1, are responsible for the clinical features associated with thiamine-responsive megaloblastic anemia syndrome in which treatment with pharmacological doses of thiamine correct the megaloblastic anemia and diabetes mellitus. The anemia can recur when thiamine is withdrawn. Thiamine may be effective in preventing deafness if started before two months. Our patient was found homozygous for a mutation, 242insA, in the nucleic acid sequence of exon B, with insertion of an adenine introducing a stop codon at codon 52 in the high-affinity thiamine transporter gene, SLC19A2, on chromosome 1q23.3.

Encephalopathy in type I hyperlipidemia.

Familial chylomicronemia syndrome is a group of rare genetic disorders characterized by deficient activity of an enzyme lipoprotein lipase or apo-protein C-II deficiency. In this paper we present an infant with massive hyperchylomicronemia and severe pancreatitis. Exchange transfusion for controlling hypertriglyceridemia and pancreatitis led to an increase in hyperviscosity which resulted in encephalopathy.

Acquired von Willebrand syndrome in children with aortic and pulmonary stenosis.

INTRODUCTION: This prospective study was planned to investigate the frequency and relationship of acquired von Willebrand syndrome (AVWS) with aortic and pulmonary stenosis in patients. METHODS: A total of 84 children, ranging from two to 18 years of age, were enrolled in this study. Of these, 28 had isolated aortic stenosis, 32 had isolated pulmonary stenosis and 24 were healthy. Children with aortic and pulmonary stenosis associated with other congenital heart diseases were excluded. Children with hypothyroidism, renal or liver disease, malignancy or autoimmune disease were also excluded. Wholeblood count, blood group, factor VIII level, prothrombin time (PT), activated partial thromboplastin time (aPTT), von Willebrand factor antigen (VWF:Ag), ristocetin co-factor (VWF:RCo), and bleeding time using a platelet-function analyser (PFA-100) were performed in all patients. All of the children in the study underwent a detailed physical examination and echocardiographic evaluation. RESULTS: A history of bleeding was positive in 18% of the aortic stenosis group, 9% of the pulmonary stenosis group, and 4% of the control group. Seven of 60 (12%) patients had laboratory findings that implied a diagnosis of AVWS, and two of these (28%) had a history of bleeding. The frequency of AVWS was 14% in patients with aortic stenosis and 9% in those with pulmonary stenosis. CONCLUSION: AVWS is not rare in stenotic obstructive cardiac diseases. A detailed history of bleeding should be taken from patients with valvular disease. Even if the history is negative, whole blood count, PT and aPTT should be performed. If necessary, PFA-100 closure time and further tests should be planned for the diagnosis of AVWS.

Diagnosis, treatment and follow up of neonatal arrhythmias.

OBJECTIVE: This study aimed to evaluate the aetiology, spectrum, course and outcomes of neonates with arrhythmias observed in a tertiary neonatal intensive care unit from 2007 to 2012. METHODS: Neonates with rhythm problems were included. The results of electrocardiography (ECG), Holter ECG, echocardiography and biochemical analysis were evaluated. The long-term results of follow up were reviewed. RESULTS: Forty-five patients were male (68%) and 21 (32%) were female. Fifty-five patients (83.3%) were term, 11 (16.6%) were preterm, and 34% were diagnosed in the prenatal period. Twenty cases (30.3%) had congenital heart disease. Twenty-three patients (34.8%) were diagnosed during the foetal period. The most common arrhythmias were supraventricular ectopic beats and supraventricular tachycardia (SVT) at 39.3 and 22.7%, respectively. SVT recurred in five patients after the neonatal period. CONCLUSION: Supraventricular ectopic beats and SVT were the most common arrhythmias during the neonatal period. Although the prognosis of arrhythmias in the neonatal period is relatively good, regular monitoring is required.

Predictors of vasovagal syncope recurrence in children and adolescents and value of head-up tilt table test.

OBJECTIVE: The aim of the study was to define predictors of syncope recurrence in children and adolescents with vasovagal syncope and to determine the value of tilt test. METHODS: A retrospective observational study performed of prospective cohort of 150 patients aged between 8-18 years who were referred to our clinic because of fainting or who underwent tilt test with the pre-diagnosis of vasovagal syncope. The progress updated by telephone or face-to-face interview. Unpaired t-test, Mann-Whitney U test used for normal and non-normal distributed variables. Logistic regression analysis was used to determine the predictors of recurrence. RESULTS: Tilt test was positive in 97 and negative in 53 patients. Forty-eight patients had mixed, 34 had vasodepressor and 15 had cardioinhibitory type syncope. Recurrence found significantly higher in patients who had syncope in the first 20 minutes of the test (p=0.012). The number of the episodes decreased after the test; 3.86±4.75 vs 0.73±0.44, p<0.001). The recurrence was higher in patients who had more than 4 episodes. The recurrence was similar between positive and negative tilt groups. Age of syncope (OR 1.01, 95% CI 1.002, p=0.027) positive family history (OR 4.47, 95% CI 1.071-1.389, p=0.001) and the number of previous syncopal episodes (OR 1.22, 95% CI 1.882-10.623, p=0.003) were identified as risk factors for recurrence of vasovagal syncope. CONCLUSION: Age of syncope, positive family history and the number of previous syncopes are the predictors of recurrence of vasovagal syncope in children and adolescents. The number of recurrent episodes decreased after the test independently from Head-up tilt test results.

Functional pulmonary atresia in newborn with normal intracardiac anatomy: Successful treatment with inhaled nitric oxide and pulmonary vasodilators.

Functional pulmonary atresia is characterized by a structurally normal pulmonary valve that does not open during right ventricular ejection. It is usually associated with Ebstein's anomaly, Uhl's anomaly, neonatal Marfan syndrome and tricuspid valve dysplasia. However, functional pulmonary atresia is rarely reported in newborn with anatomically normal heart. We report a newborn with functional pulmonary atresia who had normal intracardiac anatomy, who responded to treatment with nitric oxide and other vasodilator therapy successfully.

Diffusion-weighted magnetic resonance imaging findings of a patient with neonatal citrullinemia during acute episode.

Reports on citrullinemia usually describe the imaging findings in the adult form of the disease. However, neuroimaging findings of neonatal cases are seldom reported. We report on the diffusion-weighted magnetic resonance imaging (MRI) findings of a one-year old infant with neonatal citrullinemia during an acute episode and discuss possible underlying mechanisms for abnormal diffusion findings.