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Parents’ experiences of having an asymptomatic child diagnosed with hypertrophic cardiomyopathy through family screening

Published online by Cambridge University Press:  01 October 2010

Ewa-Lena Bratt ,
Ingegerd Östman-Smith ,
Carina Sparud-Lundin  and
B. Åsa Axelsson
Ewa-Lena Bratt*
Affiliation:
Department of Paediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Paediatric Cardiology, The Queen Silvia Children’s Hospital, Gothenburg, Sweden
Ingegerd Östman-Smith
Affiliation:
Department of Paediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Paediatric Cardiology, The Queen Silvia Children’s Hospital, Gothenburg, Sweden
Carina Sparud-Lundin
Affiliation:
Institute of Health and Care Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
B. Åsa Axelsson
Affiliation:
Institute of Health and Care Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
*
Correspondence to: E.-L. Bratt, MScN, Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy. The Queen Silvia Children’s Hospital, 416 85 Gothenburg, Sweden. Tel: 0046 31 3435139; Fax: 0046 31 3435947; E-mail: ewa-lena.bratt@vgregion.se
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Abstract

Background

Hypertrophic cardiomyopathy is hereditary and the commonest medical cause of sudden death in childhood and adolescence, which is the reason for recommending screening in children with an affected parent. A diagnosis of hypertrophic cardiomyopathy implies lifestyle modifications, restrictions that may bring profound changes to the affected individual and impacts on the whole family.

Objective

To describe parents’ experiences of how the diagnosis of hypertrophic cardiomyopathy in their child affects daily life.

Method

Twelve parents with asymptomatic children diagnosed with hypertrophic cardiomyopathy through family screening were interviewed 12–24 months after the diagnosis. Analysis was conducted with qualitative content analysis.

Results

Parents described the immediate reaction of shock, grief, and injustice but were also grateful that the child was still asymptomatic. The diagnosis caused a significant change in lifestyle for most families due mainly to restrictions of sports activities. Parents had to adapt to the new life and develop strategies to protect their child. Death became a reality causing feelings of vulnerability. Regular medical check-ups and access to the liaison nurse were described as important factors of reassurance.

Conclusions

Parents experienced early diagnosis as positive in a long-term perspective. The main changes perceived were ascribed to lifestyle modifications. Parents with athletic children experienced the lifestyle modifications as more severe. They strived to create a new life where they could feel secure and have faith in the future, and emphasised the need of regular follow-up and support from health care professionals as “mental pain relief”, which helped them achieve a new state of normality.

Keywords

Adolescencechildhoodcontent analysisinterviewpsychosocial consequencestransition
Type
Original Articles
Information
Cardiology in the Young , Volume 21 , Issue 1 , February 2011 , pp. 8 - 14
Copyright
Copyright © Cambridge University Press 2010

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References

1. Hada, Y, Sakamoto, T, Amano, K, et al. Prevalence of hypertrophic cardiomyopathy in a population of adult Japanese workers as detected by echocardiographic screening. Am J Cardiol 1987; 59: 183–184.CrossRefGoogle Scholar
2. Maron, BJ, Roman, MJ, Paranicas, M, et al. Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the strong heart study). Am J Cardiol 2004; 93: 1510–1514.CrossRefGoogle Scholar
3. Maron, BJ, Gardin, JM, Flack, JM, Gidding, SS, Kurosaki, TT, Bild, DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Circulation 1995; 92: 785–789.CrossRefGoogle Scholar
4. Richard, P, Charron, P, Carrier, L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227–2232.CrossRefGoogle ScholarPubMed
5. Östman-Smith, I, Wettrell, G, Keeton, B, et al. Age- and gender-specific mortality rates in childhood hypertrophic cardiomyopathy. Eur Heart J 2008; 29: 1160–1167.CrossRefGoogle ScholarPubMed
6. Bjornstad, H, Corrado, D, Pelliccia, A. Prevention of sudden death in young athletes: a milestone in the history of sports cardiology. Eur J Cardiovasc Prev Rehabil 2006; 13: 857–858.CrossRefGoogle ScholarPubMed
7. Corrado, D, Basso, C, Schiavon, M, Thiene, G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998; 339 6: 364–369.CrossRefGoogle ScholarPubMed
8. Corrado, D, Pelliccia, A, Bjornstad, HH, et al. Cardiovascular pre-participation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol. Consensus Statement of the study group of sport cardiology of the working group of cardiac rehabilitation and exercise physiology and the working group of myocardial and pericardial diseases of the European society of cardiology. Eur Heart J 2005; 26 5: 516–524.CrossRefGoogle Scholar
9. Maron, BJ, Chaitman, BR, Ackerman, MJ, et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation 2004; 109 22: 2807–2816.CrossRefGoogle ScholarPubMed
10. Östman-Smith, I, Wetrell, G, Riesenfeld, T. A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment. J Am Coll Cardiol 1999; 34: 1813–1833.CrossRefGoogle ScholarPubMed
11. Östman-Smith, I, Wettrell, G, Keeton, B, et al. Echocardiographic and electrocardiographic identification of those children with hypertrophic cardiomyopathy who should be considered at high-risk of dying suddenly. Cardiol young 2005; 15: 632–642.CrossRefGoogle ScholarPubMed
12. Plötslig hjärtdöd bland barn, ungdomar och unga vuxna vid idrott och fysisk ansträngning. Komplettering av Socialstyrelsens riktlinjer för hjärtsjukvård 2004. In: Welfare TNBoHa (ed.). Nationella riktlinjer för vård, behandling och omsorg, Stockholm, 2006.Google Scholar
13. Meleis, AI, Sawyer, LM, Im, EO, Hilfinger Messias, D, Schumacher, K. Experiencing transitions: an emerging middle-range theory. ANS Adv Nurs Sci 2000; 23: 12–28.CrossRefGoogle ScholarPubMed
14. Marshall, C, Rossman, GB. Designing Qualitative Research. Sage, London, 2006.Google Scholar
15. Burns, N, Grove, SK. The Practice of Nursing Research: Conduct, Critique & Utilization. Elsevier/Saunders, Philadelphia, 2005.Google Scholar
16. Clark, AM. Qualitative research: what it is and what it can contribute to cardiology in the young. Cardiol Young 2009; 19: 135–144.CrossRefGoogle ScholarPubMed
17. Krippendorff, K. Content Analysis: An Introduction to Its Methodology. Sage, London, 2004.Google Scholar
18. Graneheim, UH, Lundman, B. Qualitative content analysis in nursing research: concepts, procedures and measures to achieve trustworthiness. Nurse Educ Today 2004; 24: 105–112.CrossRefGoogle ScholarPubMed
19. World Medical Association. Declaration of Helsinki. Ethical Principles for Medical Research Involving Human Subjects: The World Medical Association, 1964.Google Scholar
20. Hendriks, KS, Grosfeld, FJ, Van Tintelen, JP, et al. Can parents adjust to the idea that their child is at risk for a sudden death?: psychological impact of risk for long QT syndrome. Am J Med Genet 2005; 138 A: 107–112.CrossRefGoogle Scholar
21. Farnsworth, MM, Fosyth, D, Haglund, C, Ackerman, MJ. When i go in to wake them … i wonder: parental perceptions about congenital long QT syndrome. J Am Acad Nurse Pract 2006; 18: 284–290.CrossRefGoogle ScholarPubMed
22. Meulenkamp, TM, Tibben, A, Mollema, ED, et al. Predictive genetic testing for cardiovascular diseases: impact on carrier children. Am J Med Genet 2008; 146A: 3136–3146.CrossRefGoogle ScholarPubMed
23. Canli, T, Zhao, Z, Brewer, J, Gabrieli, JD, Cahill, L. Event-related activation in the human amygdala associates with later memory for individual emotional experience. J Neurosci 2000; 20.CrossRefGoogle ScholarPubMed
24. Olivotto, I, Maron, MS, Adabag, AS, et al. Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy. J Am Coll Cardiol 2005; 46: 480–487.CrossRefGoogle ScholarPubMed