D. Boshoff - Academia.edu (original) (raw)

Papers by D. Boshoff

European Heart Journal, 2007

Aims Congenital heart defects (CHDs) are frequently caused by chromosomal imbalances, especially ... more Aims Congenital heart defects (CHDs) are frequently caused by chromosomal imbalances, especially when associated with additional malformations, dysmorphism, or developmental delay. Only in a subset of such patients, a chromosomal aberration can be identified with current cytogenetic tests. Array Comparative Genomic Hybridization (Array-CGH) now enables the detection of submicroscopic chromosomal imbalances at high resolution. In this report, we evaluate for the first time the use of array-CGH as a diagnostic tool in a selected group of patients with a CHD. Methods and results Sixty patients with a CHD of unknown cause but with features suggestive of a chromosomal aberration were selected. Array-CGH was performed using an in-house made 1 Mb micro-array. Chromosomal imbalances not previously described as polymorphisms were detected in 18/60 patients (30%). Ten of these (17%) are considered to be causal. In three deletions, genes known to cause CHDs were implicated (NKX2.5, NOTCH1, NSD1, EHMT). One patient carried a duplication of chromosome 22q11.2, previously associated with CHD. In the other six patients, both the de novo occurrence as well as the size of the imbalance indicated causality. In addition, seven inherited aberrations unreported thus far were detected. Their causal relationship with CHDs remains to be established. Finally, a mosaic monosomy 7 was not considered as causal but did enable to make a diagnosis of Fanconi anaemia. Conclusion This study shows that array-CGH is able to provide an etiological diagnosis in a large proportion of patients with a CHD, selected for a 'chromosomal phenotype'. Besides their usefulness in genetic counselling, identified chromosomal aberrations may aid in the medical follow-up of these individuals.

Catheterization and Cardiovascular Interventions, 2007

Objective: To assess safety and efficacy of transcatheter atrial septal defect (ASD) closure in s... more Objective: To assess safety and efficacy of transcatheter atrial septal defect (ASD) closure in small children. Background: Percutaneous closure of ASD is a well accepted alternative to surgery. Reported experience in small children remains, however, scarce. Methods: Fifty-two children underwent percutaneous ASD closure at a weight ≤15 kg, in four Belgian tertiary referral paediatric cardiology centers. Indication for treatment, device implantation rate, procedural details, complication rate, residual shunt on echocardiography, and impact of procedure on symptoms were retrospectively analyzed. Results: Mean age at procedure was 36 months (7-60), mean weight 13 kg (4.7-15). Associated cardiac lesions were seen in 21% of the patients and noncardiac in 32.7%. Most patients (69.2%) were symptomatic. Mean ASD size was 12 mm (range 5-20 mm). A device could be inserted in 49 patients (94%). No major complications occurred. Minor complications occurred in 8 patients (15.4%) including device embolization in 2, successfully treated with transcatheter retrieval and second device insertion. Mean follow-up reached 27 months (0.03-61.2). Residual shunt was absent, trivial, or small in 93% (n = 42) at latest follow-up. Clinical improvement was noted in 91.7% of the symptomatic patients. Minor complications were more frequent in the presence of large ASDs (>15 mm) but not in smaller babies (<10 kg). Conclusion: Patients ≤15 kg requiring ASD closure form a special population with high incidence of associated anomalies and medical conditions. For this particular set of patients, percutaneous closure is a valid alternative. Asymptomatic or mildly symptomatic children should be treated at a later age.

The American Journal of Cardiology, 2002

The quantification of regional myocardial function in tetralogy of Fallot (TOF) by conventional M... more The quantification of regional myocardial function in tetralogy of Fallot (TOF) by conventional M-mode and 2-dimensional echocardiography is difficult because of the complex right ventricular (RV) and altered left ventricular (LV) geometry. In 30 asymptomatic postoperative TOF patients (aged 4 to 16 years) with a low pressure in the right ventricle and with varying degrees of pulmonary regurgitation and in 30 aged-matched healthy children, the ultrasonic-derived regional deformation parameters peak systolic strain rate (SR) and systolic strain (epsilon) were acquired from ventricles and compared. In TOF RV free walls, SR, and epsilon were reduced in the basal, mid-, and apical segments and averaged -1.5 +/- 0.6 second(-1) for SR and -22 +/- 8% for epsilon, respectively (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.001 vs normals). Peak systolic SR of the basal RV free wall correlated significantly with the QRS duration of the electrocardiogram (r = 0.81, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.0001). Abnormalities in RV deformation were more marked in patients with transannular patches versus infundibular patches. In the septum there was a homogeneous reduction in SR and epsilon in the basal, mid-, and apical segments. These averaged -1.4 +/- 0.3 second(-1) for SR and -19 +/- 4% for epsilon, respectively (p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.01 vs normals). Longitudinal SR and epsilon values of the 3 LV lateral wall segments (averaged SR = -1.6 +/- 0.4 second(-1), averaged epsilon = -20 +/- 5%; p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.05 vs normals), and radial SR and epsilon of the LV posterior wall (SR = 3.3 +/- 0.9 second(-1); epsilon = 51 +/- 14%; p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.05 vs normals) were significantly reduced. Thus, abnormalities in regional RV and LV systolic myocardial function in asymptomatic postoperative TOF patients were quantified by the deformation parameters SR and epsilon. RV deformation abnormalities are associated with electrical depolarization abnormalities.

The Thoracic and Cardiovascular Surgeon

Facts, Views & Vision in ObGyn, 2012

The prenatal diagnosis of fetal coarctation is still challenging. It is mainly suspected by ventr... more The prenatal diagnosis of fetal coarctation is still challenging. It is mainly suspected by ventricular disproportion (smaller left ventricle than right ventricle). The sensitivity of ventricular discrepancy is however moderate for the diagnosis of coarctation and there is a high false positive rate. Prenatal diagnosis of coarctation is important because the delivery can be arranged in a centre with a pediatric cardiac intensive careand this reduces postnatal complications and longterm morbidity. For many years the prenatal diagnosis of coarctation has been investigated to improve specificity and sensitivity by several of measurements. This article reviews all relevant articles from 2000 until 2011 searching pubmed and the reference list of interesting articles. An overview of specific measurements and techniques that can improve the diagnosis of coarctation has been made, such as the isthmus diameter, ductal diameter, isthmus/ductal ratio, z-scores derived from measurements of the ...

City, 2014

Background All RVOT conduits are vulnerable for infective endocarditis (IE) which influences cond... more Background All RVOT conduits are vulnerable for infective endocarditis (IE) which influences conduit longevity and clinical outcome. The incidence of IE of the Melody valved stent needs to be compared with other RVOT conduits. Patients and methods Retrospective study including all patients in the database of a tertiary center with an implantation of a homograft (European Homograft Bank), Contegra TM graft or Melody TM conduit in RVOT. Results 827 conduits were implanted in 657 patients. Between 1989 and 2013, 660 homografts were implanted in 579 patients (age 15.7±12.8y, range 3d66y); IE occurred in 23 pts during follow-up of 7.6±6.3y (0-23.7y). 59 Contegra TM grafts were implanted in 58 patients between 2000 and 2003 (9.2±8.6y, range 3d-47y); 13 (22%) had IE during follow-up of 7.5± 3.9y (range 0.3-12.9y). 109 Melody TM valved stents were implanted in 108 pts (18.3±12.2y, range 4-80y) in 2006-2013; IE occurred in 6 (5.5%)pts during 1.5± 1.9y (0-6.4y). The bacteria in the Melody gro...

European Heart Journal, 2005

Cardiovascular Journal of Africa, 2008

Hybrid approach as bridge to biventricular repair in a neonate with critical aortic stenosis and ... more Hybrid approach as bridge to biventricular repair in a neonate with critical aortic stenosis and borderline left ventricle