A5031931194- Congenital Heart Disease Studies
- Cardiovascular Issues in Pregnancy
- Cardiac Valve Diseases and Treatments
- Aortic Disease and Treatment Approaches
- Cardiomyopathy and Myosin Studies
- Vascular anomalies and interventions
- Cardiac Arrhythmias and Treatments
- Congenital Diaphragmatic Hernia Studies
- Cardiovascular and Diving-Related Complications
- Cardiovascular Effects of Exercise
- Coronary Artery Anomalies
- Connective tissue disorders research
- Pregnancy and preeclampsia studies
- Folate and B Vitamins Research
- Cystic Fibrosis Research Advances
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Blood groups and transfusion
- Renal and Vascular Pathologies
- Fetal and Pediatric Neurological Disorders
- Child Nutrition and Feeding Issues
- Atrial Fibrillation Management and Outcomes
- Connexins and lens biology
- Heat shock proteins research
- Muscle Physiology and Disorders
Wilhelmina Children's Hospital
2016-2024
University Medical Center Utrecht
2008-2024
Utrecht University
2019
Leeds General Infirmary
2004
Maastricht University Medical Centre
2001-2002
Background Neonates with congenital heart disease are at risk for impaired brain development in utero, predisposing children to postnatal injury and adverse long‐term neurodevelopmental outcomes. Given the vital role of placenta fetal growth, we assessed incidence placental pathology explored its association total regional volumes, gyrification, after birth. Methods Results Placentas from 96 term singleton pregnancies severe were prospectively analyzed macroscopic microscopic pathology. We...
In fetal tachycardia, pharmacological therapy with digoxin, flecainide and sotalol has been reported to be effective. a recent retrospective multicenter study, was considered less effective than the other drugs in treatment of supraventricular tachycardia (SVT). The aim this study re-evaluate efficacy safety maternally administered tachycardia.This review records 30 consecutive fetuses documented on M-mode echocardiography between January 2004 December 2010 at Wilhelmina Children's Hospital,...
<h3>BACKGROUND AND PURPOSE:</h3> Fetuses and neonates with critical congenital heart disease are at risk of delayed brain development neurodevelopmental impairments. Our aim was to investigate the association between fetal neonatal volumes injury in a longitudinally scanned cohort an antenatal diagnosis relate postmenstrual age type disease. <h3>MATERIALS METHODS:</h3> This prospective, longitudinal study including 61 undergoing surgery cardiopulmonary bypass <30 days after birth MR...
This study describes the association between complexity of congenital cardiac and extracardiac malformations, parental decision pregnancy continuation or termination.Congenital heart defects (CHD) was diagnosed by ultrasound in 251 fetuses before 24th week (23 + 6 weeks) gestation during four year period from 2007 to 2010. All Utrecht region were referred our center due a strict referral pattern. The severity possible malformations retrospectively categorized pediatric cardiologist...
The neonatal Marfan syndrome (nMFS) is a rare condition with poor prognosis. relative infrequency of this hampers the clinical diagnosis at an early age. This report describes progress 4-year-old boy and severe cardiac involvement. Molecular genetic studies showed de novo point mutation in exon 29 FBN1 gene located on chromosome 15q21.1. classic region for nMFS has not been reported before. literature reviewed. We stress importance recognition phenotype order to anticipate development abnormalities.
Mutations in the αB-crystallin gene (CRYAB) have been reported desmin-related myopathies, with or without cardiac involvement. this also documented large multi-generation families autosomal dominant congenital posterior pole cataract (CPPC). In these no muscular phenotype was reported. This report describes a family an unusual read-through mutation CRYAB, leading to elongation of normal protein 19 amino acid residues. Affected members combine CPPC adult onset dilated cardiomyopathy (DCM),...
To report the antenatal detection rate in a consecutive series of liveborn infants with atrioventricular septal defect (AVSD).Review and analysis referrals for detailed fetal echocardiography postnatal diagnosis AVSD.Tertiary referral centre congenital heart disease data prospectively collected between 1996 to 2001.92 consecutively AVSDs were identified which 27 (29%) detected by routine obstetric ultrasound. The was worse trisomy 21 (12 49 (25%) v 15 43 (35%) chromosomally normal children)...
Objective Surgical outcomes of pediatric patients with Ebstein's anomaly are often described as part all-age-inclusive series. Our objective is to focus on treated surgically in childhood (0-18 y). We study the intended treatment (biventricular or 1.5 ventricle repair univentricular palliation), freedom from unplanned reoperation and survival this specific age group, a nationwide study. Design Records all born between 1980 2013 were reviewed. Demographic variables, intraoperative procedures...
Abstract Background: The aim of this study was to review our institution’s experience with truncus arteriosus from prenatal diagnosis clinical outcome. Methods: and results: We conducted a single-centre retrospective cohort for the years 2005–2020. Truncus antenatal echocardiographic diagnostic accuracy within institution 92.3%. After diagnosis, five parents (31%) decided terminate pregnancy. inclusion referring hospitals, 16 patients were offered surgery available follow-up. Right...
Background Forecasting the prognosis of a child when diagnosed with Ebstein’s anomaly is difficult. We, therefore, studied which factors at time diagnosis are associated death during childhood. Methods All consecutive patients (0–18 years) in Netherlands between 1980 and 2014 were included. Survival curves obtained using Kaplan-Meier method. By Cox proportional hazard model, we analysed (at diagnosis) that death. Results We included 176 patients. Thirty-one (18%) died before age 18 years....
Background: Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity mortality. Although knowledge the genetic basis pediatric cardiomyopathy has improved considerably, underlying cause remains elusive in substantial proportion cases. Methods: Exome sequencing was used to screen for causative defect pair siblings rapidly progressive dilated death early infancy. Protein expression assessed patient samples,...
Abstract Pulmonary artery (PA) stenosis is a common complication after the arterial switch operation (ASO) for transposition of great arteries (TGA). Four-dimensional flow (4D flow) CMR provides ability to quantify within an entire volume instead single plane. The aim this study was compare PA maximum velocities and stroke volumes between 4D CMR, two-dimensional phase-contrast (2D PCMR) echocardiography. A prospective including TGA patients ASO performed December 2018 October 2020. All...
In the 36th week of gestation a large aortico-right ventricular tunnel with an otherwise structurally normal heart was diagnosed by fetal echocardiography. This report describes for first time impact timely prenatal diagnosis followed successful management in early infancy.
In a recent study, the authors demonstrated beneficial effect of proton-pump inhibitors (PPI) on fat malabsorption and bone mineral content in children with cystic fibrosis (CF). Prolonged use PPI could result vitamin B(12) deficiency as consequence impaired release from food nonacid environment. The aim this study was to evaluate B 12 status CF patients either treated or not by measuring homocysteine blood levels, latter being sensitive indicator deficiency.The population consisted 20...
Abstract Objectives There is evidence that in fetuses with congenital heart defects (CHDs), head growth affected. However, scanty data are available on longitudinal patterns of other biometric parameters such as abdominal circumference (AC) and femur length (FL). The aim was to evaluate isolated CHD diagnosed prenatally different categories lesions. Methods Fetuses seen between 2008 2013 at the Fetal Medicine Unit 2 tertiary referral centers were retrospectively included study. classified...
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) compare EA severity classifications. Twenty-three (8-17 years) underwent CMR. Echocardiographic parameters included tricuspid annular plane systolic excursions (TAPSE), fractional area change of functional right ventricle (fRV-FAC), fRV free wall peak...
Abstract A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet genital abnormalities. The other reported this syndrome presently child both consanguineous parents. Mental development was normal in children. acronym SAMS (Short stature, Auditory atresia, Mandibular hypoplasia, Skeletal abnormalities) suggested to describe main manifestations syndrome. © 2002 Wiley‐Liss, Inc.
ABSTRACT Background In a recent study, the authors demonstrated beneficial effect of proton‐pump inhibitors (PPI) on fat malabsorption and bone mineral content in children with cystic fibrosis (CF). Prolonged use PPI could result vitamin B 12 deficiency as consequence impaired release from food nonacid environment. The aim this study was to evaluate status CF patients either treated or not by measuring homocysteine blood levels, latter being sensitive indicator deficiency. Methods population...
Objectives: To review outcomes for a large Dutch cohort of pediatric patients with Ebstein's anomaly treated surgically in childhood (0–18 years). We focus on the intended treatment (biventricular or 1.5 ventricle repair univentricular palliation), freedom from unplanned reoperation and survival this specific age group.