How to cite this article: Meulenkamp TM, Tibben A, Mollema ED, van Langen IM, Wiegman A, de Wert GM, de Beaufort ID, Wilde AAM, Smets EMA. 2008. Predictive genetic testing for cardiovascular diseases: Impact on carrier children. Am J Med Genet Part A 146A:3136–3146.
Predictive genetic testing for cardiovascular diseases: Impact on carrier children†
Article first published online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3136–3146, 15 December 2008
How to Cite
Meulenkamp, T. M., Tibben, A., Mollema, E. D., van Langen, I. M., Wiegman, A., de Wert, G. M., de Beaufort, I. D., Wilde, A. A.M. and Smets, E. M.A. (2008), Predictive genetic testing for cardiovascular diseases: Impact on carrier children. Am. J. Med. Genet., 146A: 3136–3146. doi: 10.1002/ajmg.a.32592
- Issue published online: 21 NOV 2008
- Article first published online: 14 NOV 2008
- Manuscript Accepted: 24 SEP 2008
- Manuscript Received: 3 MAR 2008
- The Netherlands Organization for Scientific Research (NWO). Grant Number: 050-32-012
- familial hypercholesterolemia;
- genetic counseling;
- hypertrophic cardiomyopathy;
- long QT syndrome;
- predictive genetic testing
We studied the experiences of children identified by family screening who were found to be a mutation carrier for a genetic cardiovascular disease (Long QT Syndrome (LQTS), Hypertrophic Cardiomyopathy (HCM), Familial Hypercholesterolemia (FH)). We addressed the (a) manner in which they perceive their carrier status, (b) impact on their daily lives, and (c) strategy used to cope with these consequences. Children (aged 8–18) who tested positive for LQTS (n = 11), HCM (n = 6) or FH (n = 16), and their parents participated in semi-structured audiotaped interviews. Interview topics included illness perception, use of medication, lifestyle modifications, worries, and coping. Each interview was coded by two researchers. The qualitative analysis was guided by Leventhal's model of self-regulation. The children were overall quite articulate about the disease they were tested for, including its mode of inheritance. They expressed positive future health perceptions, but feelings of controllability varied. Adherence and side-effects were significant themes with regard to medication-use. Refraining from activities and maintaining a non-fat diet were themes concerning lifestyle modifications. Some children spontaneously reported worries about the possibility of dying and frustration about being different from peers. Children coped with these worries by expressing faith in the effectiveness of medication, trying to be similar to peers or, in contrast, emphasizing their “being different.” Children generally appeared effective in the way they coped with their carrier status and its implications. Nevertheless, dealing with the daily implications of their condition remains difficult in some situations, warranting continued availability of psychosocial support. © 2008 Wiley-Liss, Inc.