Gravenhorst, Verena D.

[["dc.bibliographiccitation.firstpage","234"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","237"],["dc.bibliographiccitation.volume","127A"],["dc.contributor.author","Wessel, Alok D."],["dc.contributor.author","Gravenhorst, Verena D."],["dc.contributor.author","Buchhorn, Reiner"],["dc.contributor.author","Gosch, A."],["dc.contributor.author","Partsch, C. J."],["dc.contributor.author","Pankau, R."],["dc.date.accessioned","2018-11-07T10:48:04Z"],["dc.date.available","2018-11-07T10:48:04Z"],["dc.date.issued","2004"],["dc.description.abstract","Williams-Beuren syndrome (WBS) is a genetic disorder characterized by a distinctive facial gestalt, mental retardation, mild growth deficiency, and cardiovascular disease. The occurrence of sudden death in the WBS is known from several case reports, but information about the risk of sudden death as derived from the data of a large cohort of patients is lacking. We analyzed the data of 293 WBS patients who had been treated for 43 years at the same two institutions. We thus collected 5,190 patient years without loss to follow-up. During this period ten patients died. Five of them died from: reticulosarcoma (1), after accident (1), heart failure (1), following heart surgery (2). Of the remaining five patients, four died suddenly and one died of unknown cause suggestive of sudden cardiac death. Thus, the incidence of sudden death in our WBS cohort amounts to 1/1,000 patient years. This risk of sudden death is comparable to that following surgery for congenital heart disease, and is 25-100-fold higher compared to the age-matched normal population. (C) 2004 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.30012"],["dc.identifier.isi","000221707000004"],["dc.identifier.pmid","15150772"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/48111"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0148-7299"],["dc.title","Risk of sudden death in the Williams-Beuren syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1063"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE"],["dc.bibliographiccitation.lastpage","1068"],["dc.bibliographiccitation.volume","159"],["dc.contributor.author","Norozi, K."],["dc.contributor.author","Gravenhorst, Verena D."],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Wessel, Alok D."],["dc.date.accessioned","2018-11-07T10:54:28Z"],["dc.date.available","2018-11-07T10:54:28Z"],["dc.date.issued","2005"],["dc.description.abstract","Background: One of the main goals of corrective surgery of congenital heart defects in children is the improvement of quality of life, which in young children is predominantly determined by exercise capacity. It is not known whether this goal can be achieved in school-aged children who have undergone cardiac surgery in infancy. Objectives: To determine if primary school-aged children who under-went surgery to correct congenital heart defects in infancy are physically as fit as their peers. Methods: We examined 84 children with congenital heart defects, aged 4 to 11 years, after surgical repair. Fifty-two children had simple defects (ie, atrial or ventricular septal defect, coarctation of the aorta). Thirty-two children had complex defects (ie, tetralogy of Fallot, pulmonary atresia with ventricular septal defect). All patients underwent exercise testing performed on a specially modified bicycle ergometer. Ninety-eight sex- and age-matched healthy children served as the control group. Results: There was no gender difference, either in healthy children or in the group with congenital heart defects, regarding exercise testing and that the healthy children reached a mean +/- SD normalized maximal performance of 2.8 +/- 0.3 W/kg. The same range was found for the children who had undergone surgery to correct simple heart defects. The children operated on to correct complex heart defects showed significantly impaired mean normalized maximal performance, although this tended to be lower in the group that had pulmonary atresia with a ventricular septal defect than in the group with tetralogy of Fallot (mean normalized maximal performance, 1.9 W/kg vs 2.3 W/kg). Conclusions: The goal of normal exercise capacity in childhood after heart surgery is achieved in those with simple heart defects only. In children with complex heart defects impaired exercise performance persists, depending on the severity of the heart defect and probably on chronotropic incompetence."],["dc.identifier.doi","10.1001/archpedi.159.11.1063"],["dc.identifier.isi","000233051300013"],["dc.identifier.pmid","16275798"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49570"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Medical Assoc"],["dc.relation.issn","1072-4710"],["dc.title","Normality of cardiopulmonary capacity in children operated on to correct congenital heart defects"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]