Publications (3)4.58 Total impact
Article: VEGF polymorphisms are associated with endocardial cushion defects: a family-based case-control study.[show abstract] [hide abstract]
ABSTRACT: Endocardial cushion defects (ECDs) of the cardiac outflow tract are among the most common congenital heart disease phenotypes. VEGF is essential for endocardial cushion formation and derangements in VEGF synthesis lead to ECD. Three functional single nucleotide polymorphisms (SNPs) in the VEGF gene -2578 C>A, -1154 G>A, and -634 G>C play a role in cardiogenesis. In a Dutch case-control family study of triads, 190 case and 317 control children with both parents, we investigated linkage and association between these VEGF SNPs and ECD. Allele frequencies for the three VEGF SNPs were comparable between ECD children and controls. However, VEGF alleles -2578 C and -1154 G were transmitted more frequently to children with ECD (p = 0.003 and p = 0.002), in particular perimembranous ventricular septal defects (p = 0.012 and p = 0.006). The -2578A/-1154A/-634G haplotype was associated with a reduced risk of ECD (OR 0.7; 95% CI, 0.6-1.0) and was significantly less transmitted to children with ECD (p = 0.002). In a Dutch population, we show that the VEGF 2578 C, -1154 G alleles, and the AAG haplotype are associated with ECD. Possible VEGF gene-environment interactions exposures are discussed. ABBREVIATIONS::Pediatric Research 09/2009; 67(1):23-8. · 2.70 Impact Factor
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ABSTRACT: It is evident that hemodynamic factors have a dominant function already during early cardiogenesis. Flow and ensuing shear stress are sensed by endothelial cells by, ciliary modified, cytoskeletal deformation which then activates a number of subcellular structures and molecules. Shear stress dependent changes mostly converge towards NF kappa B signaling and DNA binding, thereby altering metabolic paths and influencing differentiation of the cells. Geometry of the vascular system heavily affects the flow and shear patterns, as is the case in the adult vasculature where atheroprone areas nicely coincide with the frequency of the primary cilium as shear stress sensor.Medical & Biological Engineering & Computing 02/2008; 46(5):479-84. · 1.88 Impact Factor
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ABSTRACT: The use of the pulmonary autograft for aortic root replacement has renewed interest in the morphology of the arterial roots. In this article the basic construction of the roots, their anchorage, and their support from surrounding structures are reviewed. The arterial roots manifest a complex anatomy, with an intricate relation between the anulus and its adjacent structures, which span the transition from ventricle to the great vessel. The pulmonary root is anchored over its entire circumference to the thin myocardium of the free-standing pulmonary infundibulum. The anchorage of the aortic root is more extensive, being partly inserted into the thick left ventricular and septal myocardium and partly continuous with fibrous structures such as the membranous septum and the mitral valve. The pulmonary root is supported only by a slight collar of myocardium. The aortic root is better encased, supported by the more pronounced bulging of ventricular myocardium as well as the adjacent atrial myocardium and atrial septum. When the pulmonary autograft is used for aortic root replacement it will obtain maximum support from the surrounding tissues by implanting the autograft as proximal as possible. Copyright 1998 by W.B. Saunders CompanyPediatric Cardiac Surgery Annual of the Seminars in Thoracic and Cardiovascular Surgery 02/1998; 1:157-164.