Skip to main content
SpringerLink
Log in

Living with Long QT Syndrome: A Qualitative Study of Coping with Increased Risk of Sudden Cardiac Death

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Long QT syndrome (LQTS) is a congenital disorder associated with increased risk of sudden cardiac death; LQTS patients and their families are offered diagnostic or predictive genetic testing. The purpose of this qualitative study was to investigate the psychosocial aspects of living with LQTS, to identify LQTS patients’ daily life challenges and coping strategies, and to describe their experiences with healthcare services. In-depth interviews were conducted with seven individuals who had been tested for long QT genetic mutation. Four of these participants had an implantable cardiac defibrillator (ICD). The participants reported that early and gradually acquired knowledge of the syndrome was an advantage. They also reported experiencing worries and limitations in daily life, but their main concern was for their children or grandchildren. Healthcare providers’ minimal knowledge of LQTS resulted in uncertainty, misinformation, and even wrong advice regarding treatment. The results suggest that regional centers, with the appropriate expertise, should investigate and counsel LQTS patients and their families.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Campbell, R., & Ross, L. F. (2005). Parental attitudes and beliefs regarding the genetic testing of children. Community Genetics, 8, 94–102.

    Article  PubMed  Google Scholar 

  • Cox, S., O’Donoghue, A. C., McKenna, W. J., & Steptoe, A. (1997). Health related quality of life and psychological wellbeing in patients with hypertrophic cardiomyopathy. Heart, 78, 182–187.

    PubMed  CAS  Google Scholar 

  • Davey, A., Rostant, K., Harrop, K., Goldblatt, J., & O’Leary, P. (2005). Evaluating genetic counseling: Client expectations, psychological adjustment and satisfaction with service. Journal of Genetic Counseling, 14, 197–206.

    Article  PubMed  Google Scholar 

  • Farnsworth, M. M., Fosyth, D., Haglund, C., & Ackerman, M. J. (2006). When I go in to wake them...I wonder: Parental perceptions about congenital long QT syndrome. Journal of the American Academy of Nurse Practitioners, 18, 284–290.

    Article  PubMed  Google Scholar 

  • Friedmann, E., Thomas, S. A., Inguito, P., Kao, C. W., Metcalf, M., Kelley, F. J., et al. (2006). Quality of life and psychological status of patients with implantable cardioverter defibrillators. Journal of Interventional Cardiac Electrophysiology, 17, 65–72.

    Article  PubMed  CAS  Google Scholar 

  • Giorgi, A. (ed.). (1985). Phenomenology and psychological research. Pittsburgh, PA: Duquesne University Press.

  • Hendriks, K. S. W. H., Grosfeld, F. J. M., van Tintelen, J. P., van Langen, I. M., Wilde, A. A. M., van den Bout, J., et al. (2005a). Can parents adjust to the idea that their child is at risk for a sudden death? Psychological impact of risk for QT syndrome. American Journal of Medical Genetics, 138(2), 107–112.

    Google Scholar 

  • Hendriks, K. S. W. H., Grosfeld, F. J. M., Wilde, A. A. M., van den Bout, J., van Langen, I. M., van Tintelen, J. P., et al. (2005b). High distress in parents whose children undergo predictive testing for long QT syndrome. Community Genetics, 8, 103–113.

    Article  PubMed  Google Scholar 

  • Ingles, J., Lind, J. M., Phongsavan, P., Semsarian, C. (2008). Psychosocial impact of specialized cardiac genetic clinics for hyperthrophic cardiomyopathy. Genetics in Medicine, 10(2), 117–120.

    Article  PubMed  Google Scholar 

  • Lazarus, R. S., & Folkmann, S. (1984). Stress, appraisal and coping. Springer: New York.

    Google Scholar 

  • Malterud, K. (2003). Kvalitative metoder i medisinsk forskning. En innføring. Universitetsforlaget: Oslo.

    Google Scholar 

  • Modell, S. M., & Lehmann, M. H. (2006). The long QT syndrome family of cardiac ion channelopathies: A HuGE review. Genetics in Medicine, 8, 143–155.

    Article  PubMed  CAS  Google Scholar 

  • Pedersen, S. S., van Domburg, R. T., Theuns, A. M. J., Jordaens, L., & Erdmann, R. A. M. (2005). Concerns about the implantable cardioverter defibrillator: A determinant of anxiety and depressive symptoms independent of experienced shocks. American Heart Journal, 149(4), 664–669.

    Article  PubMed  Google Scholar 

  • Priori, S. G., Schwartz, P. J., Napolitano, C., Bloise, R., Ronchetti, E., Grillo, M., et al. (2003). Risk stratification in the long-QT syndrome. New England Journal of Medicine, 348, 1866–1874.

    Article  PubMed  Google Scholar 

  • Quaglini, S., Rognoni, C., Spazzolini, C., Priori, S. G., Mannarino, S., & Schwartz, P. J. (2006). Cost-effectiveness of neonatal ECG screening for the long QT syndrome. European Heart Journal, 27, 1824–1832.

    Article  PubMed  Google Scholar 

  • Sauer, A. J., Moss, A. J., McNitt, S., Peterson, D. R., Zareba, W., Qi, M., et al. (2007). Long QT syndrome in adults. Journal of the American College of Cardiology, 49(3), 329–337.

    Article  PubMed  Google Scholar 

  • Schwartz, P. J. (2005). Management of long QT syndrome. Nature Clinical Practice Cardiovascular Medicine, 2, 346–351.

    Article  PubMed  Google Scholar 

  • Schwartz, P. J. (2006). The congenital long QT syndromes from genotype to phenotype: Clinical implications. Journal of Internal Medicine, 259, 39–47.

    Article  PubMed  CAS  Google Scholar 

  • Schwartz, P. J., Priori, S. G., Spazzolini, C., Moss, A. J., Vincent, G. M., Napolitano, C., et al. (2001). Genotype–phenotype correlation in the long-QT syndrome: Gene-specific triggers for life threatening arrhythmias. Circulation, 103(1), 89–95.

    PubMed  CAS  Google Scholar 

  • Seth, R., Moss, A. J., Mcnitt, S., Zareba, W., Andrews, M. L., Qi, M., et al. (2007). Long QT syndrome and pregnancy. Journal of the American College f Cardiology, 49(10), 1092–1098.

    Article  Google Scholar 

  • ten Kroode, H. F. J., van Langen, I. M., Hendriks, K. S. W. H., van Tintelen, J. P., Grosfeld, F. J. M., & Wilde, A. A. M. (2000). Long QT-interval syndrome and investigation of heritability: Psychological reactions in three generations in one family. Nederlandsch tijdschrift voor geneeskunde, 144(21), 995–999.

    CAS  Google Scholar 

  • Tester, D. J., Will, M. L., Haglund, C. M., & Ackerman, M. J. (2006). Effect of clinical phenotype on yield of long QT syndrome genetic testing. Journal of the American College of Cardiology, 47, 764–768.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The authors are grateful for financial support from FUGE, The Functional Genome Project, Bergen, No. 155757/510, administered by Professor Dr Psychol. Gerd Kvale.

Author information

Authors and Affiliations

  1. Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway

    Janice Andersen, Nina Øyen, Cathrine Bjorvatn & Eva Gjengedal

  2. Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021, Bergen, Norway

    Nina Øyen & Cathrine Bjorvatn

  3. Norwegian Porphyria Centre (NAPOS), Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway

    Janice Andersen

Authors
  1. Janice Andersen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Nina Øyen
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Cathrine Bjorvatn
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Eva Gjengedal
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Janice Andersen.

APPENDIX: INTERVIEW GUIDE

APPENDIX: INTERVIEW GUIDE

Background:

  • Age:

  • Time of testing:

  • Profession:

  • Education:

  • Family situation:

  • Address:

  • Children:

  • Children with the diagnosis:

Theme 1: To be a person at risk for potentially deadly heart disease

  • First encounter with the diagnosis

  • Thoughts regarding the syndrome

  • Choosing to take the test

  • Receiving an answer to the test

  • Everyday-life after diagnosis

  • Did the diagnosis lead to changes in future plans?

  • Did the feelings concerning the condition change in time after testing?

  • Negative experiences related to LOTS

  • Positive experiences related to LOTS

Theme 2: Family members

  • Thoughts regarding other family members having the same genetic condition

  • Experiences and thoughts regarding the fact that the condition is hereditary

  • Communication on the subject in the family

Theme 3: Sick or healthy?

  • Do you perceive yourself as sick or not sick?

  • What understanding has your environment of the disease?

  • Practical consequences of LOTS

Theme 4: Healthcare services

  • Meeting with healthcare services/providers

  • Wishes for future encounters with healthcare services/providers

  • Needs for follow-up services

  • Experiences/ thoughts regarding genetic counseling

Rights and permissions

Reprints and permissions

About this article

Cite this article

Andersen, J., Øyen, N., Bjorvatn, C. et al. Living with Long QT Syndrome: A Qualitative Study of Coping with Increased Risk of Sudden Cardiac Death. J Genet Counsel 17, 489–498 (2008). https://doi.org/10.1007/s10897-008-9167-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-008-9167-y

Keywords

Search

Navigation