A Case of Opsismodysplasia with a Novel Variant.

Introduction: Opsismodysplasia is a rare autosomal recessive genetic skeletal disorder characterized by short stature, short limbs, small hands and feet, delayed bone age, severe platyspondyly, metaphyseal cupping, and facial dysmorphism. Opsismodysplasia is caused by biallelic variants in the gene. Only 38 patients with a confirmed molecular diagnosis have been reported so far.

Ebstein's anomaly in children and young adults: clinical features, arrhythmia, surgical management, and factors affecting arrhythmia and mortality.

Background: Ebstein's anomaly represents 40% of congenital tricuspid valve abnormalities. Studies about paediatric Ebstein's anomaly patients are limited.

Aim: To evaluate clinical characteristics, treatment (medical/arrhythmia ablation/surgical) results, and outcome of Ebstein's anomaly patients, and to determine factors affecting arrhythmia presence and mortality.

Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.

Background: Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.

Case Presentation: We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis.

Interventional cardiac catheterization in neonates and premature infants with congenital heart disease: a single center experience.

Background: The increased survival of patients with congenital heart disease over the last three decades has been associated with improvements in diagnosis and treatment. This study aimed to evaluate therapeutic interventional catheterization, outcomes and complications of these procedures in neonates and premature infants.

Methods: In this study, therapeutic catheterization procedures performed on neonates and premature infants with congenital heart disease at a university hospital between February 2000 and October 2019 were retrospectively evaluated.

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.

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.

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.

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.

Femoral venous haemostasis in children and young adults using the 'figure-of-eight' suture technique.

Aim: The aim of our study was to evaluate the safety and efficiency of the 'figure-of-eight' suture among children and young adults with congenital heart defects who underwent interventional procedures, in patients with structurally normal hearts who underwent electrophysiological study and in haemodynamically impaired children and newborns. We also reported a novel femoral haemostasis method in patients with a central catheter by modifying the 'figure-of-eight' suture around the catheter for haemorrhage control.

Method: Between 2015 and 2018, a total of 100 'figure-of-eight' sutures were performed in 90 patients (48 males, 42 females) where the median age was 12.

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.

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.

Element profiles in blood and teeth samples of children with congenital heart diseases in comparison with healthy ones.

Background: Some elements were claimed to play a role in the pathogenesis of congenital heart defects (CHD) and influence the general well-being and health of these children.

Objectives: We aimed to assess the levels of some elements simultaneously in the blood and teeth samples of children with cyanotic and acyanotic CHD compared with healthy children.

Methods: A total of 39 children with CHD (11 with cyanotic and 28 with acyanotic CHD) and 42 age- and sex-adjusted controls were enrolled.

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.

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.

The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis.

Background This study aimed to determine cardiac findings in patients with mucopolysaccharidosis (MPS) and to assess the changes in these findings after enzyme replacement therapy (ERT). Methods A retrospective clinical cohort study was conducted on patients who were diagnosed with MPS between 1995 and 2018 in Hacettepe University, Division of Pediatric Metabolism. A total of 96 patients were diagnosed with MPS during the study period.

Congenital heart defects: the 10-year experience at a single center.

We aimed to evaluate congenital heart disease (CHD) cases according to EUROCAT subgroup classification that were diagnosed during the prenatal period in our center. CHDs that were prenatally diagnosed using ultrasonography and confirmed by fetal echocardiography were reviewed over a 10-year period. Subgroup classification was finalized at the post-partum period in terms of the EUROCAT guide 1.

A girl with Henoch Schönlein purpura associated with acute rheumatic fever and review of literature.

Aypar E, Demirtaş D, Aykan HH, Kara-Eroğlu F, Düzova A. A girl with Henoch Schönlein purpura associated with acute rheumatic fever and review of literature. Turk J Pediatr 2018; 60: 576-580.

Pulmonary thromboendarterectomy in pediatric patients: Report of three cases.

Kumbasar U, Aypar E, Karagöz T, Demircin M, Doğan R. Pulmonary thromboendarterectomy in pediatric patients: Report of three cases. Turk J Pediatr 2018; 60: 604-607.

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.

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.

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.

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.

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.

Relationship between aspartate aminotransferase-to-platelet ratio index and carotid intima-media thickness in obese adolescents with non-alcoholic fatty liver disease.

Objective: There is increasing evidence for an association between non-alcoholic fatty liver disease (NAFLD) and an increased risk of cardiovascular morbidity and mortality. The aim of this study was to investigate the association between aspartate aminotransferase-to-platelet ratio index (APRI) and carotid intima-media thickness (IMT) in obese adolescents with NAFLD.

Methods: Seventy-six obese adolescents and 36 lean subjects were enrolled in this cross-sectional single-centre study.