Low agreement between cardiologists diagnosing left ventricular hypertrophy in children with end-stage renal disease.

Background: Monitoring of the appearance of left ventricular hypertrophy (LVH) by echocardiography is currently recommended for in the management of children with End-stage renal disease (ESRD). In order to investigate the validity of this method in ESRD children, we assessed the intra- and inter-observer reproducibility of the diagnosis LVH.

Methods: Echocardiographic measurements in 92 children (0-18 years) with ESRD, made by original analysists, were reassessed offline, twice, by 3 independent observers.

Prenatal diagnosis of cardiac defects: accuracy and benefit.

Objective: The prenatal diagnosis of cardiac defects can potentially reduce postnatal morbidity and mortality. We wanted to evaluate prenatal cardiac diagnosis accuracy in a population referred for echocardiography.

Methods: Single centre retrospective study of echocardiography referrals between April 1999 and December 2008.

Audit of 10 years of referrals for fetal echocardiography.

Objectives: To evaluate trends over time, indications, diagnoses, noncardiac defects and outcome of fetuses referred for tertiary level echocardiography.

Methods: Retrospective study of fetal echocardiograms performed between April 1999 and 2009.

Results: Of the 623 fetuses included, 301 (48%) had cardiac pathology.

Is fetal cardiac function gender dependent?

Introduction: An increased nuchal translucency (NT) is more common in males. A delayed diastolic cardiac function maturation has been proposed to explain this and the reported gender-related differences in ductus venosus (DV) flow.

Objective: To investigate gender-related differences in fetal cardiac function.

Cardiac function in trisomy 21 fetuses.

Objectives: Trisomy 21 is associated with an increased nuchal translucency thickness (NT), abnormal ductus venosus (DV) flow at 11-14 weeks' gestation and congenital heart defects (CHD), and cardiac dysfunction has been hypothesized as the link between them. We therefore aimed to investigate whether cardiac function is altered in trisomy 21 fetuses.

Methods: Between December 2003 and June 2009, we performed echocardiography on 46 trisomy 21 fetuses (28 with structurally normal heart and 18 with CHD) and on 191 chromosomally/phenotypically normal fetuses with a confirmed normal heart (87 with normal NT and 104 with NT ≥ 95(th) percentile), between 11 and 35 weeks' gestation.

Fetal cardiac function between 11 and 35 weeks' gestation and nuchal translucency thickness.

Objectives: The pathophysiological background of an increased nuchal translucency (NT) is still poorly understood. Cardiac dysfunction has been proposed as a cause. The aim of this study was to determine if, in fetuses with normal hearts, the NT thickness is related to cardiac function throughout gestation.

Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis.

Background: Two fetuses with endocardial fibroelastosis, one with critical aortic stenosis and one with high-output cardiac failure due to chorioangiomatosis, are presented to evaluate the correlation between Doppler echocardiographic findings, the fetal clinical condition and the anatomical substrate found at postmortem.

Methods: Doppler measurements of cardiac function (systolic, diastolic and global) and a cardiovascular score incorporating five parameters of fetal well-being were recorded.

Results: In the fetus with critical aortic stenosis, the cardiovascular score was diminished, there was no hydrops, the systolic and global cardiac function indices were within normal limits but the diastolic function indices were abnormal.

A multicentric study of disease-related stress, and perceived vulnerability, in parents of children with congenital cardiac disease.

Parents of children with congenitally malformed hearts can suffer from stress as a result of the medical condition of their child. In this cross-sectional study, we aimed to describe levels of parental stress, and perceived vulnerability, in parents of children who underwent major cardiac surgery, by using both generic and disease-related measures for assessment. We included parents of children who underwent open-heart surgery over the period 2002 through 2007 in the Center for congenital Anomalies Heart Amsterdam/Leiden, abbreviated to provide the acronym CAHAL.

Validation and reproducibility of aortic pulse wave velocity as assessed with velocity-encoded MRI.

Purpose: To validate magnetic resonance imaging (MRI) assessment of aortic pulse wave velocity (PWV(MRI)) with PWV determined from invasive intra-aortic pressure measurements (PWV(INV)) and to test the reproducibility of the measurement by MRI.

Materials And Methods: PWV(MRI) was compared with PWV(INV) in 18 nonconsecutive patients scheduled for catheterization for suspected coronary artery disease. Reproducibility of PWV(MRI) was tested in 10 healthy volunteers who underwent repeated measurement of PWV(MRI) at a single occasion.

Aortic elasticity and size are associated with aortic regurgitation and left ventricular dysfunction in tetralogy of Fallot after pulmonary valve replacement.

Background: Aortic wall pathology and concomitant aortic dilatation have been described in tetralogy of Fallot (TOF) patients, which may negatively affect aortic valve and left ventricular systolic function.

Objective: To assess aortic dimensions, aortic elasticity, aortic valve competence and biventricular function in repaired TOF patients after pulmonary valve replacement (PVR) using magnetic resonance imaging (MRI).

Methods: MRI was performed in 16 patients with TOF after PVR (10 male; mean age 31 years (SD 15)) and 16 age and gender-matched healthy subjects.

The effect of bosentan in patients with a failing Fontan circulation.

Objectives: To investigate the effect of bosentan in patients with a failing Fontan circulation.

Design: A multicentric open label, non-controlled study.

Setting: 5 tertiary care centres for congenital cardiology.

The nuchal translucency and the fetal heart: a literature review.

In this overview the current knowledge of the relationship between an increased nuchal translucency (NT) measurement and fetal heart structure and function in chromosomally normal fetuses is reviewed. Relevant pathophysiological theories behind the increased NT are discussed. Fetuses with an increased NT have an increased risk for congenital heart disease (CHD) with no particular bias for one form of CHD over another.

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

We report on two apparently unrelated girls with Johanson-Blizzard syndrome (JBS), in both children caused by a homozygous IVS26+5G>A mutation in the UBR1 gene. In both cases the parents are consanguineous and more sibs are affected. The somewhat mild phenotype (with no or slight mental retardation) in these two JBS families might be explained by residual UBR1 activity.

Aortic elasticity and left ventricular function after arterial switch operation: MR imaging--initial experience.

Purpose: To prospectively assess aortic dimensions, aortic elasticity, aortic valve competence, and left ventricular (LV) systolic function in patients after the arterial switch operation (ASO) by using magnetic resonance (MR) imaging.

Materials And Methods: Informed consent was obtained from all participants for this local ethics committee-approved study. Fifteen patients (11 male patients, four female patients; mean age, 16 years +/- 4 [standard deviation]; imaging performed 16.

Maternal intake of fat, riboflavin and nicotinamide and the risk of having offspring with congenital heart defects.

Background: With the exception of studies on folic acid, little evidence is available concerning other nutrients in the pathogenesis of congenital heart defects (CHDs). Fatty acids play a central role in embryonic development, and the B-vitamins riboflavin and nicotinamide are co-enzymes in lipid metabolism.

Aim Of The Study: To investigate associations between the maternal dietary intake of fats, riboflavin and nicotinamide, and CHD risk in the offspring.

Maternal global methylation status and risk of congenital heart diseases.

Objective: To investigate whether the association between the maternal methylation status as reflected by low S-adenosylmethionine and high S-adenosylhomocysteine, is detrimental for cardiogenesis and congenital heart disease (CHD) in the offspring.

Methods: As part of a case-control study in the western part of the Netherlands, we evaluated 231 mothers of children with CHD and 315 control mothers of nonmalformed children. The total case group was analyzed and stratified into isolated (n=180) and nonisolated CHDs (n=51).

Determinants of right ventricular outflow tract conduit longevity: a multinational analysis.

Objective: The need for conduit replacement in the growing child remains a major problem after right ventricular outflow tract reconstruction. We compared two diverse surgical centers with considerable practice variation in Europe and the United States to identify modifiable risk factors that can increase conduit longevity.

Design: Retrospective analysis of 194 patients (56 Europe, 138 United States) who underwent primary right ventricular to pulmonary artery conduit placement between January 1987 and March 2003.

Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre.

Objective: To investigate the congenital heart disease (CHD) found in association with an increased nuchal translucency (NT) at 11-14 weeks of gestation in chromosomally normal and abnormal fetuses.

Methods: Patients referred from January 1998 until May 2007 with an increased NT (> or = 95th percentile) where CHD was diagnosed were included. Chromosome analysis, fetal and postnatal echocardiography were performed.

[Percutaneous implantation of a pulmonary valve in 3 children with surgically corrected cardiac anomalies].

An 11-year-old girl, a 15-year-old boy and a 12-year-old girl all underwent percutaneous implantation of a Melody pulmonary valve prosthesis to replace a stenotic and insufficient homograft in the pulmonary artery. Preoperatively, 2 of the children suffered from fatigue and dyspnoea on exertion The homografts had been implanted between the ages of 1-2, to establish surgical continuity between the right ventricle and the pulmonary artery. The anomalies were tetralogy of Fallot, pulmonary atresia with intact ventricular septum and pulmonary atresia with a ventricular septum defect.

MR imaging of right ventricular function after the Ross procedure for aortic valve replacement: initial experience.

Purpose: To prospectively assess right ventricular (RV) function after the Ross procedure by using magnetic resonance (MR) imaging.

Materials And Methods: The local ethics committee approved the study and informed consent was obtained from all participants prior to enrollment in the study. Seventeen patients (15 male, two female; mean age +/- standard deviation, 19 years +/- 3.

Polymorphisms in chemokine receptor genes and susceptibility to Kawasaki disease.

Kawasaki disease (KD) is an acute vasculitis occurring in young children. Its aetiology is unknown, but an infectious agent is assumed. Increased levels of proinflammatory cytokines and chemokines have been reported in KD.

Percutaneous implantation of a pulmonary valve: an illustrative case.

Surgical reconstruction of the right ventricular outflow tract (RVOT) with valved conduits in infants and children with congenital heart disease leads to re-intervention in later life as the ensuing pulmonary regurgitation and stenosis of the degenerating conduit impacts negatively on right ventricular function. Percutaneous pulmonary valve implantation (PPVI) provides a safe alternative to early surgical re-intervention in these patients. We describe this procedure as performed on an 11- year-old boy.

Reduced aortic elasticity and dilatation are associated with aortic regurgitation and left ventricular hypertrophy in nonstenotic bicuspid aortic valve patients.

Objectives: This study sought to assess elasticity and dimensions of the aorta and their impact on aortic valve competence and left ventricular (LV) function in patients with a nonstenotic bicuspid aortic valve (BAV).

Background: Intrinsic pathology of the aortic wall is a possible explanation for reduced aortic elasticity and aortic dilatation in patients with BAVs, even in the absence of a stenotic aortic valve. The relationship between aortic wall elasticity, aortic dimensions, aortic valve competence, and LV function in patients with BAVs has not previously been studied with magnetic resonance imaging.

Transcatheter closure of perimembranous ventricular septal defects in infants and children using the Amplatzer perimembranous ventricular septal defect occluder.

There are very few published reports of the transcatheter closure of perimembranous ventricular septal defects (PMVSDs) using the Amplatzer PMVSD occluder with encouraging initial results. This report presents initial and 1-year results from 54 patients with PMVSDs who underwent transcatheter closure at 5 different institutions with the Amplatzer PMVSD occluder. Sixty-five patients with PMVSDs were enrolled at 5 European centers.