Comprehensive Evaluation of Pediatric Patients with Ebstein Anomaly Requires Both Echocardiography and Cardiac Magnetic Resonance Imaging.

With the trend towards childhood surgery in patients with Ebstein anomaly (EA), thorough imaging is crucial for patient selection. This study aimed to assess biventricular function by echocardiography and cardiac magnetic resonance (CMR) and compare EA severity classifications. Twenty-three patients (8-17 years) underwent echocardiography and CMR.

Emerging clinical applications of strain imaging and three-dimensional echocardiography for the assessment of ventricular function in adult congenital heart disease.

Management of congenital heart disease (CHD) in adults (ACHD) remains an ongoing challenge due to the presence of residual hemodynamic lesions and development of ventricular dysfunction in a large number of patients. Echocardiographic imaging plays a central role in clinical decision-making and selection of patients who will benefit most from catheter interventions or cardiac surgery..

Paediatric Ebstein's anomaly: how clinical presentation predicts mortality.

Background: Forecasting the prognosis of a child when diagnosed with Ebstein's anomaly is difficult. We, therefore, studied which factors at the time of diagnosis are associated with death during childhood.

Methods: All consecutive patients (0-18 years) diagnosed with Ebstein's anomaly in the Netherlands between 1980 and 2014 were included.

Longitudinal Myocardial Deformation Does Not Predict Single Ventricle Ejection Fraction Assessed by Cardiac Magnetic Resonance Imaging in Children with a Total Cavopulmonary Connection.

Survival of children with single ventricle heart defects after the total cavopulmonary connection (TCPC) has improved, but impaired cardiac function remains a major cause of morbidity and mortality. Cardiac magnetic resonance imaging (cMRI) is the gold standard in assessing single ventricle volume and function, but high costs and limited availability hamper its routine use. A cheaper and more available alternative is echocardiography.

First-in-child use of the oral selective prostacyclin IP receptor agonist selexipag in pulmonary arterial hypertension.

Pulmonary arterial hypertension (PAH) is a complex disease with a poor prognosis. Selexipag is a selective prostacyclin receptor agonist with vasodilatory, anti-proliferative, anti-inflammatory, and pro-angiogenic properties. However, no clinical data on its therapeutic use in children with PAH are currently available.

Surgical outcome in pediatric patients with Ebstein's anomaly: A multicenter, long-term study.

Objective: Surgical outcomes of pediatric patients with Ebstein's anomaly are often described as part of all-age-inclusive series. Our objective is to focus on patients treated surgically in childhood (0-18 y). We study the intended treatment (biventricular or 1.

Regional ventricular performance and exercise training in children and young adults after repair of tetralogy of Fallot: randomized controlled pilot study.

Background: Public-health guidelines recommend patients with congenital heart disease to exercise. Studies have shown that patients with congenital heart disease can improve physical exercise capacity. The effect of training on regional ventricular performance has hardly been studied.

Dealing with Ebstein's anomaly.

Ebstein's anomaly is a complex congenital disorder of the tricuspid valve. Presentation in neonatal life and (early) childhood is common. Disease severity and clinical features vary widely and require a patient-tailored treatment.

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics.

Background: Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB), thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies against factor H (αFH) with or without a homozygous deletion in CFH-related protein 1 and 3 (∆CFHR1/3) predispose development of atypical hemolytic uremic syndrome (aHUS).

Methods: Different mutations in genes encoding complement proteins in 45 pediatric aHUS patients were retrospectively linked with clinical features, treatment, and outcome.

Results: In 47% of the study participants, potentially pathogenic genetic anomalies were found (5xCFH, 4xMCP, and 4xC3, 3xCFI, 2xCFB, 6xαFH, of which five had ∆CFHR1/3); four patients carried combined genetic defects or a mutation, together with αFH.

Major improvements in health-related quality of life during the use of etanercept in patients with previously refractory juvenile idiopathic arthritis.

Objective: To evaluate changes in health-related quality of life (HRQoL) in patients with refractory juvenile idiopathic arthritis (JIA) who are being treated with etanercept.

Methods: 53 patients with JIA from seven Dutch centres were included. HRQoL was measured by the Childhood Health Assessment Questionnaire (CHAQ), Child Health Questionnaire (CHQ) and Health Utilities Index mark 3 (HUI3) at the start and after 3, 15 and 27 months of treatment.

Development of a digital Childhood Health Assessment Questionnaire for systematic monitoring of disease activity in daily practice.

Objective: To develop a reliable and user-friendly digital Childhood HAQ (CHAQ) to facilitate systematic monitoring of disease activity at the outpatient clinic in juvenile idiopathic arthritis (JIA) patients.

Methods: The digital CHAQ was tested with patients who visited the outpatient paediatric rheumatology clinic of the Erasmus MC Sophia Children's Hospital. These patients completed in a randomized order the paper form and digital CHAQ while being observed.

[Diagnostic image. A girl with a distended and painful abdomen].

A 17-month-old girl was admitted with dyspnoea and a distended and painful abdomen, due to infiltration of leukemic white blood cells in the thymus and organomegaly based on T-cell acute lymphatic leukemia.