Percutaneous Transcatheter Retrieval of Central Venous Port Fragments in Pediatric Patients; A Single-center Experience From the Pediatric Cardiology Department.

BACKGROUND: Split/fracture and embolization of central venous/shunt catheters are rare but serious complications in children. Percutaneous retrieval of intravascular foreign bodies is an important minimal invasive treatment. This study is aimed to represent our largest pediatric sample experience till now of 17 years from a single institution. Another aim is to compare the results regarding the removal or leaving in place of embolized or ruptured intravascular or cardiac venous catheter parts in children. PATIENTS AND METHODS: A total of 26 cases were included in this study. Any pediatric patient with normal coagulation parameters and a fractured catheter fragment was included in this study. Other intravascular foreign bodies related to interventional devices and/or pacemaker/implantable cardiac defibrillator leads were excluded from this study. RESULTS: Twenty-six patients, of whom 25 had oncologic diseases and 1 had a ventriculoatrial shunt, were included. The median age was 83.5 months (between 20 mo and 18 y) at treatment.Superior vena cava (9 cases), followed by the right atrium (5 cases), were the most two common sites of embolization for cardiovascular foreign bodies. The success rate of percutaneous retrieval was 92.3% in all patients. There were neither complications nor deaths. The retrieval technique revealed a predisposition for extraction through the femoral vein (96.1%) and using snare techniques (100%). Additional catheters like pigtail, National Institutes of Health, or ablation catheters were used for stabilization in selective cases in which the permanent central venous fragments stuck to the vessels. A tractional maneuver and capturing the ruptured material in the middle were other trick points for successful retrieval. Patients were asymptomatic in 76.9% of cases (20/26). CONCLUSION: Percutaneous retrieval of cardiovascular foreign bodies is a reasonable, safe, and effective way in children when the catheter fragments are free and mobile. It should be considered the preferred treatment option instead of surgery. In patients where catheter fragments are stuck and are adherent to vessels, it could be left, and followed up by anticoagulation. Novel techniques accompanied by an experienced team could be helpful in difficult cases.

Fetal cardiac interventions: First-year experience of a tertiary referral center in Turkey.

AIM: To present the first-year experience of fetal cardiac interventions (FCIs) in a tertiary referral hospital and to evaluate the outcomes. METHODS: This retrospective study consisted of four pregnant women who underwent fetal pulmonary or aortic balloon valvuloplasty between November 2020 and June 2021. The procedures were performed with a percutaneous cardiac puncture under the ultrasonography guidance. Gestational age at intervention, procedural success, complications, and perinatal outcomes were evaluated. Procedural complications defined as fetal bradyarrhythmia requiring treatment, pericardial effusion requiring drainage, balloon rupture, and fetal death. The procedure was considered technically successful if the valve was dilated with a balloon catheter. Ultimately successful procedure was defined as the discharge of infants alive with biventricular circulation. RESULTS: A total of 5 FCIs attempted between 26 + 3 and 28 + 2 gestational weeks. While the procedure was technically successful in 2 cases with pulmonary stenosis, both attempts were unsuccessful in the fetus with pulmonary atresia. Although the procedure was technically successful in the patient with critical aortic stenosis, it ultimately failed. No fetal death occurred in our series and there were no procedure-related significant maternal complications. However, three interventions were complicated by fetal bradycardia and pericardial effusion necessitating treatment, and balloon rupture cropped up in one case. CONCLUSION: FCIs may lead to improving the likelihood of a biventricular outcome for selected fetuses. Careful selection of patients and centralization of experience are essential for obtaining favorable outcomes. Operators should be aware of procedural complications. Improved procedural techniques with a lower complication rate will be achieved through advanced medical technology and special balloon catheters.

Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.

Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism". It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one with dilated cardiomyopathy and the other with multiple ventricular septal defects. Dilated cardiomyopathy and isolated ventricular septal defect have not been previously reported in Seckel syndrome. Cardiovascular evaluation should be performed in all patients with Seckel syndrome. Early diagnosis of congenital and acquired heart diseases will reduce morbidity and mortality in these patients.

Two decades of experience on ablation in children with Ebstein's anomaly.

INTRODUCTION: Accessory pathways are commonly seen due to delamination of tricuspid valve leaflets. In addition to accessory pathways, an enlarged right atrium due to tricuspid regurgitation and incisional scars creates substrates for atrial re-entries and ectopic tachycardia. We sought to describe our experience with catheter ablation in children with Ebstein's anomaly. METHODS AND RESULTS: During the study period, of 89 patients diagnosed with Ebstein's anomaly, 26 (30.9%) of them who underwent 33 ablation procedures were included in the study. Accessory pathways were observed in the majority of procedures (n = 27), whereas atrial flutter was observed in five, atrioventricular nodal reentrant tachycardia in five, and atrial tachycardia in two procedures. Accessory pathways were commonly localised in the right posteroseptal (n = 10 patients), right posterolateral (n = 14 patients), septal (n = two patients), and left posteroseptal (n = one patient) areas. Multiple accessory pathways and coexistent arrhythmia were observed in six procedures. All ablation attempts related to the accessory pathways were successful, but recurrence was observed in five (19%) of the ablations. Ablation for atrial flutter was performed in five patients; two of them were ablated successfully. One of the atrial tachycardia cases was ablated successfully. CONCLUSIONS: Ablation in patients with Ebstein's anomaly is challenging, and due to nature of the disease, it is not a rare occasion in this group of patients. Ablation of accessory pathways has high success, but also relatively high recurrence rates, whereas ablation of atrial arrhythmias has lower success rates, especially in operated patients.

Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension: extended study results.

BACKGROUND: Macitentan is an orally active, potent, dual endothelin receptor antagonist and is the only registered treatment for pulmonary arterial hypertension that significantly reduced morbidity and mortality in a long-term study. AIM: We have recently reported that switch from bosentan to macitentan significantly improved exercise capacity in children and young adults with pulmonary arterial hypertension in a 24-week prospective study and well tolerated without adverse events. We now aimed to evaluate clinical efficacy, safety of switch in a larger patient population, in a 24-month prospective study. METHODS: This is a single-institution, 24-month prospective study. Patients ≥12 years with idiopathic/heritable, pulmonary arterial hypertension, or related to CHD or residual pulmonary arterial hypertension due to repaired congenital systemic-to-pulmonary shunts and on bosentan treatment were included. Concomitant treatment with oral phosphodiesterase type 5 inhibitors/inhaled prostanoids was allowed. Outcome measures included change from baseline to 24 months, in the 6-minute walk distance, functional class, oxygen saturation at rest/after walk distance test, and natriuretic peptide levels. Safety end points included adverse events, laboratory abnormalities. RESULTS: Twenty-seven patients (19 adults/8 children, mean age: 21.1 ± 6.3 years (12-36), weight: 53.1 ± 15.7 kgs (26-87)) were included. Mean duration of macitentan treatment: 22.3 ± 3.9 months (9-24). Six-minute walk distance significantly improved from baseline (mean: 458 ± 79 m (300-620)) at 6 months (mean: 501 ± 73 m (325-616) + 43 m) (p < 0.05), at 12 months (mean: 514 ± 82 m (330-626) + 56 m) (p < 0.05), and at 24 months (mean: 532 ± 85 m (330-682) + 74 m) (p < 0.05). We observed a significant improvement during the first 6 months but no incremental improvement after 6 months (p > 0.05). Macitentan did not significantly change functional class, oxygen saturation, and natriuretic levels (p > 0.05). None of the patients had anaemia, hepatotoxicity, and peripheral edema. CONCLUSIONS: Our study is the first study which showed that switch from bosentan to macitentan improved exercise capacity in children and young adults with pulmonary arterial hypertension significantly in the first 6 months and compared to baseline in 24 months and well tolerated without adverse events.

Palivizumab compliance in congenital heart disease patients: factors related to compliance and altered lower respiratory tract infection viruses after palivizumab prophylaxis.

BACKGROUND: Lower respiratory tract infections caused by respiratory syncytial virus can be severe during infancy, which requires admission to the hospital. These infections may be more severe especially in patients with congenital heart disease. Passive immunisation with palivizumab, a monoclonal antibody, is recommended in high-risk infants. We tried to determine the compliance rates, factors affecting compliance, and also other microorganisms responsible for lower respiratory tract infections after palivizumab prophylaxis in these patients. METHODS: We evaluated patients' compliance to prophylaxis with palivizumab in two consecutive respiratory syncytial virus seasons from pharmacy records. We also investigated factors affecting compliance and the frequency of hospitalisations for lower respiratory tract infections. We investigated the causative microorganisms detected in hospitalised patients. RESULTS: In this study, 86.7% of the desired number of injections was achieved in 176 patients in two seasons. Out of these, 117 patients (66.4%) received all the doses they were prescribed. Although not statistically significant, compliance to prophylaxis was higher in male patients, cyanotic patients, those who started under 1 year old, and who lived in the city centre. Human metapneumovirus, parainfluenza type 3, and bocavirus were detected in the hospitalised patients. CONCLUSION: Patients with congenital heart disease can survive the period of infancy with less problem by making palivizumab prophylaxis more effective, and awareness about non- respiratory syncytial virus factors may be a guide for the development of new treatments.

Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension.

BACKGROUND: Macitentan is an orally active, potent, dual endothelin receptor antagonist and is the only registered treatment for pulmonary arterial hypertension that significantly reduced morbidity and mortality in a long-term event-driven study. Aim Few studies compared the clinical efficacy and safety of switch from bosentan to macitentan only in adult patients with pulmonary arterial hypertension. We aimed to evaluate the clinical efficacy and safety of switch from bosentan to macitentan in children and young adults. METHODS: This is a single-institution, 24-week prospective study. Patients ⩾12 years of age with idiopathic/heritable pulmonary arterial hypertension or related to CHD or residual pulmonary arterial hypertension due to repaired congenital systemic-to-pulmonary shunts and on bosentan therapy were included. Concomitant treatment with oral phosphodiesterase type 5 inhibitors and inhaled prostanoids was allowed. Outcome measures included change from baseline to week 24, in the 6-minute walk distance, functional class, oxygen saturation at rest/after 6-minute walk distance test, systolic pulmonary artery pressure estimated by echocardiography, and brain natriuretic peptide levels. Safety end points included adverse events laboratory abnormalities. RESULTS: A total of 13 patients - 5 male and 8 female - completed the study. The mean age was 20.3±6.5 years (12-35) and weight was 54.0±14.5 kg (27-75). Five patients were ⩽18 years of age. Macitentan improved 6-minute walk distance from baseline (mean: 466±35 m (300-590)), at 12 weeks (mean: 494±78 m (325-590), +28 m) (p0.05). None of the patients had anaemia, hepatotoxicity, and peripheral oedema. CONCLUSIONS: Our study is the first study that showed that switch from bosentan to macitentan significantly improved exercise capacity in children and young adults with pulmonary arterial hypertension and is well tolerated without any adverse events.

Transcatheter closure of the patent foramen ovale in children: intermediate-term follow-up results.

The patent foramen ovale is almost a normal anatomical hole between the atria with ~30% incidence in the general population. It has been suggested that the patent foramen ovale is the cause of some neurological events, which is explained by paradoxical embolism. Transcatheter closure of the patent foramen ovale is a common procedure in adult patients with cerebral ischaemic events, but there are limited data investigating the results in children. Between January, 2005 and February, 2014, 17 patients' patent foramen ovales were closed by the transcatheter approach in our department. The indications for closure were transient ischaemic attack in 10 patients, stroke in four patients, and migraine in three patients. The mean age and mean weight at the time of the procedure were 11.1±3.7 years and 42.1±15.4 kg, respectively. We asked our patients whether their previous ailments continued. All patients responded to the study survey. In 15 patients, ailments did not continue after patent foramen ovale closure and they significantly decreased in two of them. We suggest that under the right conditions device closure of the patent foramen ovale is a safe solution for these cryptogenic ischaemic events and migraine.

Midterm Results of Implantable Cardioverter Defibrillators in Children and Young Adults from a Single Center in Turkey.

BACKGROUND: Despite concerns about complications with the implantable cardioverter defibrillator (ICD), it is effective for the prevention of sudden cardiac death (SCD). We aimed to analyze our midterm experience with ICD in children and young adults. METHODS: This retrospective study included patients who were implanted with an ICD between 2001 and 2014. Demographic characteristics, clinical information, shock features, and complications for all patients with ICD were analyzed. The study population was divided into two groups: early-era patients implanted before 2008, and late-era patients implanted after 2008. RESULTS: Sixty-nine patients (median age: 12 years, median follow-up: 52 months) were implanted with an ICD. Diagnostic categories were channelopathy (56.6%), cardiomyopathy (36.2%), congenital heart disease (5.8%), and other (1.4%). We performed implantation for primary prevention in 66.6% (39.3% in early-era patients and 85.4% in late-era patients). Thirty-one (44.9%) received 139 appropriate shocks (66% of total shocks) while 14 (20.2%) received 71 inappropriate shocks. However, there was no statistically significant difference in the use of appropriate shocks in the primary (66.7%) versus the secondary (72.2%) prevention groups. The incidence of appropriate and inappropriate shock was 66.7% and 33.3% in the primary prevention group, and 72.2% and 27.8% in the secondary prevention group, respectively. Two patients died, although only one death was the result of a lead problem. CONCLUSIONS: Although lead integrity problems, inappropriate shocks, and infections are significant issues, ICD therapy appears to be a safe, effective, and necessary option for the prevention of SCD in both children and young adults.

Fetal aorta larger than the main pulmonary artery on the three-vessel view: Correlation with postnatal echocardiographic findings.

PURPOSE: This study investigated postnatal cardiac anomalies determined by postnatal echocardiography in fetuses with the ascending aorta (AA) diameter larger than that of the main pulmonary artery (MPA) on the three-vessel view (3VV). METHODS: The study included 17 pregnancies. The diameters of the AA and MPA were assessed on the 3VV in second-trimester sonographic screening, and all the patients underwent postnatal echocardiography to assess the cardiac outcome. RESULTS: In the study population, the mean AA diameter was 3.7 mm (range, 2.2-5.6 mm), and the mean MPA diameter was 3.2 mm (range, 1.8-5.2 mm). The mean AA/MPA ratio was 1.2 (range, 1.1-1.9). According to the postnatal echocardiograms, one of the patients had tetralogy of Fallot. This patient had the highest prenatal AA/MPA ratio (1.9). Among the remaining 16 cases, five had secundum atrial septal defects, with two having concomitant dilatation of the AA. There was one case of isolated dilatation of the AA. CONCLUSIONS: Although an AA with a diameter larger than that of the MPA on the 3VV does not usually indicate severe congenital heart disease involving the ventricular outflow tract and/or great arteries, careful prenatal and postnatal echocardiographic examinations are mandatory to determine the presence of congenital heart disease. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:423-428, 2016.

Left ventricular dimensions, systolic functions, and mass in term neonates with symmetric and asymmetric intrauterine growth restriction.

BACKGROUND: Previous studies have demonstrated structural changes in the heart and cardiac dysfunction in foetuses with intrauterine growth restriction. There are no available data that evaluated left ventricular dimensions and mass in neonates with symmetric and asymmetric intrauterine growth restriction. Therefore, we aimed to evaluate left ventricular dimensions, systolic functions, and mass in neonates with symmetric and asymmetric intrauterine growth restriction. We also assessed associated maternal risk factors, and compared results with healthy appropriate for gestational age neonates. METHODS: In all, 62 asymmetric intrauterine growth restriction neonates, 39 symmetric intrauterine growth restriction neonates, and 50 healthy appropriate for gestational age neonates were evaluated by transthoracic echocardiography. RESULTS: The asymmetric intrauterine growth restriction group had significantly lower left ventricular end-systolic and end-diastolic diameters and posterior wall diameter in systole and diastole than the control group. The symmetric intrauterine growth restriction group had significantly lower left ventricular end-diastolic diameter than the control group. All left ventricular dimensions were lower in the asymmetric intrauterine growth restriction neonates compared with symmetric intrauterine growth restriction neonates (p>0.05), but not statistically significant except left ventricular posterior wall diameter in diastole (3.08±0.83 mm versus 3.54 ±0.72 mm) (p<0.05). Both symmetric and asymmetric intrauterine growth restriction groups had significantly lower relative posterior wall thickness (0.54±0.19 versus 0.48±0.13 versus 0.8±0.12), left ventricular mass (9.8±4.3 g versus 8.9±3.4 g versus 22.2±5.7 g), and left ventricular mass index (63.6±29.1 g/m2 versus 54.5±24.4 g/m2 versus 109±28.8 g/m2) when compared with the control group. CONCLUSIONS: Our study has demonstrated that although neonates with both symmetric and asymmetric intrauterine growth restriction had lower left ventricular dimensions, relative posterior wall thickness, left ventricular mass, and mass index when compared with appropriate for gestational age neonates, left ventricular systolic functions were found to be preserved. In our study, low socio-economic level, short maternal stature, and low maternal weight were found to be risk factors to develop intrauterine growth restriction. To our knowledge, our study is the first to evaluate left ventricular dimensions, wall thicknesses, mass, and systolic functions in neonates with intrauterine growth restriction and compare results with respect to asymmetric or symmetric subgroups.

Evaluation of Oral Health Status and Treatment Needs of Children with Congenital and Acquired Heart Disease.

Objective: To evaluate the oral health status and treatment needs of children with congenital and acquired heart disease. Methods: This descriptive study included 301 children aged 5-14 from June 2022 to June 2023. Heart conditions were classified by congenital/acquired status and severity. The children's sociodemographic characteristics, medical and dental history, tooth brushing habits, and non-nutritional habits (bruxism, nail-biting, thumb-sucking, etc.) were evaluated. Oral health assessments including caries, oral hygiene, enamel defects, and dental treatment needs-related indices were recorded. Results: The mean age was 8.95 ± 2.91 years, and 271 (90%) of the children had congenital heart disease. The children with moderate and severe heart disease had significantly higher decayed/missing/filled surfaces (dmfs) (p = 0.038) and pulp exposure (p = 0.015) compared to the children with mild heart disease. According to the International Caries Detection and Assessment System II (ICDAS II) index, which included initial caries lesions, there were no caries-free children and 75.7% had extensive caries. The mean plaque index and gingival index were found to be 1.18 ± 0.38 and 0.69 ± 0.53, respectively. Enamel defects were observed in 15.9%. The Treatment Needs Index (TNI) was 85.8% for the primary teeth and 88.9% for the permanent teeth. The Care Index (CI) was 12.4% for the primary teeth and 10.8% for the permanent teeth. Conclusions: Children with congenital and acquired heart disease exhibit a high prevalence of untreated dental caries, gingivitis, and plaque accumulation, with a high need for dental treatments. Dentists should prioritize addressing these issues to prevent the risk of infective endocarditis (IE) and improve oral health outcomes in this population.

Mean platelet volume in acute rheumatic fever.

Acute rheumatic fever (ARF) is still an endemic disease, especially among school-aged children in developing countries. Mean platelet volume (MPV), which is commonly used as a measure of platelet size, indicates the rate of platelet production and platelet activation. We aimed to investigate MPV in children with ARF. The study population consisted of 40 children with ARF (32 patients with carditis and 8 patients without carditis) and 40 healthy control subjects. White blood cell (WBC) and platelet counts were significantly higher and MPV values were significantly lower in patients with ARF during the acute stage when compared to controls. Erythrocyte sedimentation rate (ESR) and C-reactive protein values significantly decreased in patients with ARF after the treatment when compared to baseline, whereas MPV values increased. MPV values were negatively correlated with ESR and WBC, and platelet counts. In conclusion, during the acute stage of ARF, MPV values were lower when compared to controls.

Unusually prominent Chiari's network prolapsing into the right ventricle in an asymptomatic newborn.

Chiari's network (CN) is an embryologic remnant of eustachian valve located in the right atrium (RA). Incomplete involution of the fetal sinus venosus valves results in ''redundant'' CN. CN has been found in 1.3-4 % of autopsy studies and is believed to be of little clinical consequence. However, a redundant CN may favor persistence of a patent foramen ovale, formation of an atrial septal aneurysm, atrial thrombus, or paradoxic embolism, or cause intense right-to-left shunting. It may also cause arrythmias or compromise cardiovascular functions. We report an asymptomatic newborn with a prominent CN prolapsing into the right ventricle and discuss the clinical consequences of a CN. Although the patient herein presented is asymptomatic, CN may cause persistent cyanosis in the newborns mimicking congenital heart disease. It can also be confused with other curvilinear, highly mobile pathologic structures in the RA, such as vegetation, flail tricuspid leaflet, ruptured chordae tendinae, thrombus, or tumor. CN is not always a benign structure; therefore, identification and accurate diagnosis by echocardiography is important.

Isolated right ventricular noncompaction in a newborn.

Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. The prevalence of left ventricular noncompaction is 0.01% in adults and 0.14% in pediatric patients. Although the usual site of involvement is the left ventricle, the right ventricle and septum can be affected as well. Previously, right ventricular noncompaction has been described only in a few cases of newborns with congenital heart defects and in adult patients. This report presents a newborn with isolated right ventricular noncompaction. To the authors' knowledge, this is the first newborn patient with isolated right ventricular noncompaction but no congenital heart defect involving only the right ventricle.

Subclinical hypothyroidism as a risk factor for the development of cardiovascular disease in obese adolescents with nonalcoholic fatty liver disease.

No data are available on the relationship between subclinical hypothyroidism and risk factors for the development of cardiovascular disease in obese adolescents with nonalcoholic fatty liver disease (NAFLD). This study aimed to determine whether an association exists between subclinical hypothyroidism and risk factors for the development of cardiovascular disease in obese adolescents with NAFLD. The study enrolled 111 obese adolescents and 42 lean subjects. The obese subjects were divided into two subgroups based on the presence or absence of fatty liver with high transaminases: a NAFLD group and a non-NAFLD group. Subclinical hypothyroidism was defined as a thyroid-stimulating hormone (TSH) level higher than 4 mIU/l and a normal free-thyroxine level (0.6-1.8 ng/dl). Insulin resistance was calculated by the homeostasis model assessment (HOMA-IR). Left ventricular mass (LVM), LVM index measurements, carotid intima media thickness (IMT), and HOMA-IR values were higher in the NAFLD obese group with TSH levels higher than 4 mIU/l than in the NAFLD obese group with TSH levels lower than 4 mIU/l. Elevated TSH values in the NAFLD obese group were positively correlated with most of the metabolic and cardiovascular risk parameters such as total cholesterol (r = 0.606, p = 0.001), triglycerides (r = 0.476, p = 0.016), low-density lipoprotein cholesterol (r = 0.461, p = 0.004), insulin (r = 0.607, p = 0.001), HOMA-IR (r = 0.596, p = 0.002), carotid IMT (r = 0.894, p < 0.0001), and LVM (r = 0.563, p = 0.003). The findings demonstrated that the obese adolescents with NAFLD and subclinical hypothyroidism had a more adverse cardiovascular risk profile and a higher carotid IMT and LVM.

Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence.

Pierre-Robin sequence or syndrome (PRS) (OMIM #261800) is characterized by a small mandible (micrognathia), posterior displacement/retraction of the tongue (glossoptosis), and upper airway obstruction. It has an incidence varying from 1 in 8,500 to 1 in 30,000 births. Congenital heart defects (CHDs) occur in 20 % of the patients with PRS. Ventricular septal defect, patent ductus arteriosus, and atrial septal defects are the most common lesions. Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. It is thought to be caused by arrest of the normal endomyocardial morphogenesis. Isolated left ventricular noncompaction (LVNC) in patients with PRS has not been reported previously. This report describes a newborn with PRS and isolated LVNC. Previously, LVNC has been reported in association with mitochondrial disorders, Barth syndrome hypertrophic cardiomyopathy, zaspopathy, muscular dystrophy type 1, 1p36 deletion, Turner syndrome, Ohtahara syndrome, distal 5q deletion, mosaic trisomy 22, trisomy 13, DiGeorge syndrome, and 1q43 deletion with decreasing frequency. Karyotype analysis of the reported patient showed normal chromosomes (46, XX), and a fluorescent in situ hybridization study did not show chromosome 22q11.2 deletion. This is the first clinical report of a patient with isolated LVNC and PRS. Noncompaction of the ventricular myocardium is a rare and unique disorder with characteristic morphologic features that can be identified by echocardiography. Long-term follow-up evaluation for development of progressive LV dysfunction and cardiac arrhythmias is indicated for these patients.

Clinical characteristics and causes of chest pain in 380 children referred to a paediatric cardiology unit.

BACKGROUND: Chest pain is a common presenting complaint to paediatrics, paediatric cardiology, and paediatric emergency departments. In this study, we prospectively evaluated clinical characteristics and causes of chest pain in children referred to our paediatric cardiology unit. METHODS: A total of 380 children were included. Associated symptoms and past and family histories were evaluated. All patients underwent physical examination. The following studies were performed: complete blood count in all patients; fasting lipid profiles in overweight and obese children and children with a family history of premature cardiovascular disease; and electrocardiogram, chest X-ray, and echocardiogram in all patients. If necessary, 24-hour electrocardiogram monitoring or exercise stress tests were performed. Patients with a history of positive psychological findings were evaluated by a child psychiatrist. RESULTS: The most common causes of chest pain were musculoskeletal disorders (37.1%), idiopathic chest pain (29.2%), and miscellaneous disorders, for example precordial catch syndrome (15%), respectively. Only 1 of 380 (0.3%) patients had chest pain due to a cardiac disorder. Electrocardiograms were abnormal in 4 of 380 (1.1%) patients. A total of 9 of 380 patients (2.3%) had dyslipidaemia. CONCLUSIONS: Although a paediatric cardiology referral may provide reassurance to the primary care and emergency department physicians, our results show that cardiac aetiologies for paediatric chest pain are very rare. We think that many patients in our study were adequately evaluated only by careful history, and physical examination. Therefore, we suggest that it may not be necessary to use echocardiogram in the routine evaluation of children with chest pain.

Case Series: Exposure to Glucagon-like Peptide-1 Receptor Agonist in the First Trimester of Pregnancy in Two Siblings.

BACKGROUND: The safety of glucagon-like peptide-1 receptor agonists in pregnancy is under investigation. In this report, we want to share the results of a patient with polycystic ovary syndrome who applied to our outpatient clinic for diabetes and had two unplanned pregnancies following the initiation of exenatide for obesity treatment. CASE PRESENTATION: A 40-year-old woman with diabetes was admitted to the endocrinology outpatient clinic. On physical examination, the body mass index was over 35 kg/m ², therefore, exenatide treatment was started. Four weeks later, she came to suspicion of pregnancy, and obstetric ultrasound revealed a fetus at 17 weeks of gestation. Exenatide was interrupted. At 37 weeks of gestation, she gave birth to a female baby with atrial septal defect. The baby was followed with echocardiography annually until spontaneous closure of ASD when she was three years old. Two years later, the patient consulted us again for weight gain. Exenatide was prescribed again. After 6 months, an abdominal ultrasound revealed a fatty liver and detected a pregnancy compatible with 13 weeks of gestation. Two siblings are healthy now, 7 and 5 years old, respectively. CONCLUSION: This report contributes to our knowledge of fetal exposure to exenatide. Large-scale randomized studies are needed for its safe use in pregnancy.

Cardiac rhabdomyomas: clinical progression, efficacy and safety of everolimus treatment.

BACKGROUND: Primary cardiac tumors are extremely rare. Cardiac rhabdomyoma is the most common primary cardiac tumor. 50-80% of solitary rhabdomyomas and all multiple rhabdomyomas are associated with tuberous sclerosis complex. Due to spontaneous regression, surgery is necessary only in severe hemodynamic compromise and persistent arrhythmias. Everolimus, a mechanistic target of rapamycin (mTOR) inhibitor, can be used in the treatment of rhabdomyomas seen in tuberous sclerosis complex. We aimed to evaluate the clinical progression of rhabdomyomas followed-up in our center between the years 2014-2019 and evaluate the efficacy and safety of everolimus treatment on tumor regression. METHODS: Clinical features, prenatal diagnosis, clinical findings, tuberous sclerosis complex presence, treatment and follow-up results were evaluated retrospectively. RESULTS: Among 56 children with primary cardiac tumors, 47 were diagnosed as rhabdomyomas, 28/47 patients (59.6%) had prenatal diagnosis, 85.1% were diagnosed before one year of age and 42/47 patients (89.3%) were asymptomatic. Multiple rhabdomyomas were present in 51% and median diameter of tumors was 16mm (4.5 - 52 mm). In 29/47 patients (61.7%) no medical or surgical treatment were necessary while 34% of these had spontaneous regression. Surgery was necessary in 6/47 patients (12.7%). Everolimus was used in 14/47 patients (29.8%). Indications were seizures (2 patients) and cardiac dysfunction (12 patients). Regression in size of rhabdomyomas was achieved in 10/12 patients (83%). Although, in the long-term, the amount of tumor mass shrinkage was not significantly different between patients who received everolimus and untreated patients (p=0.139), the rate of mass reduction was 12.4 times higher in patients who received everolimus. Leukopenia was not detected in any of the patients, but, hyperlipidemia was noted in 3/14 patients (21.4%). CONCLUSIONS: According to our results, everolimus accelerates tumor mass reduction, but not amount of mass regression in the long term. Everolimus may be considered for treatment of rhabdomyomas which cause hemodynamic compromise or life-threatening arrhythmias before surgical intervention.