Predictive genetic testing for cardiovascular diseases: Impact on carrier children

Tineke M. Meulenkamp, Aad Tibben, Eline D. Mollema, Irene M. Van Langen, Albert Wiegman, Guido M. De Wert, Inez D. De Beaufort, Arthur A. M. Wilde, Ellen M. A. Smets

Research output: Contribution to journalArticleAcademicpeer-review

48 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)3136-3146
Number of pages11
JournalAmerican Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
Issue number24
Publication statusPublished - 15-Dec-2008


  • Children
  • DNA-testing
  • Familial hypercholesterolemia
  • Genetic counseling
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
  • Predictive genetic testing
  • adolescent
  • article
  • cardiovascular disease
  • child
  • clinical article
  • coping behavior
  • DNA determination
  • drug efficacy
  • drug use
  • familial hypercholesterolemia
  • gene mutation
  • genetic analysis
  • heterozygote
  • human
  • hypertrophic cardiomyopathy
  • inheritance
  • lifestyle modification
  • long QT syndrome
  • patient compliance
  • patient counseling
  • priority journal
  • psychosocial care
  • qualitative analysis

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