Skip to main content Accessibility help
×
Home

The experience of being diagnosed with hypertrophic cardiomyopathy through family screening in childhood and adolescence

  • Ewa-Lena Bratt (a1) (a2), Carina Sparud-Lundin (a3), Ingegerd Östman-Smith (a1) (a2) and Åsa B. Axelsson (a3)

Abstract

Aim

To describe the experiences of children and adolescents being screened positive for hypertrophic cardiomyopathy and how this impacts their daily life.

Background

Hypertrophic cardiomyopathy is a hereditary disease and the most common medical cause of sudden death in childhood and adolescence. This is the reason for recommending screening in children with an affected first-degree relative. A diagnosis of hypertrophic cardiomyopathy implies lifestyle modifications, restrictions that may bring profound changes to the daily life of the affected individual.

Design

This is a descriptive qualitative interview study.

Methods

We interviewed 13 asymptomatic children or adolescents diagnosed with hypertrophic cardiomyopathy through family screening 12–24 months after the diagnosis. Analysis was conducted with qualitative content analysis.

Results

Children described an involuntary change, which affected their daily life with limitations and restrictions in life, both in the individual and social context. Lifestyle recommendations had the most severe impact on daily life and affected their social context. They tried to navigate in a world with new references, and after reorientation they felt hope and had faith in the future.

Conclusions

Children diagnosed with hypertrophic cardiomyopathy through family screening went through an involuntary change resulting in limitations and restrictions in life. This study indicates that there is a need for support and that healthcare professionals have to consider the specific needs in these families. Our findings thus give guidance in how best to improve support to the patients and their family. Diagnosis in asymptomatic children should be accompanied by ideally multi-professional follow-up, focusing not only on medical issues.

Copyright

Corresponding author

Correspondence to: Dr E.-L. Bratt, Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, Queen Silvia Children's Hospital, 416 85 Gothenburg, Sweden. Tel: 0046 31 3435139; Fax: 0046 31 3435947; E-mail: ewa-lena.bratt@vgregion.se

References

Hide All
1.Hada, Y, Sakamoto, T, Amano, K, Gidding, SS, Kurosaki, TT, Bild, DE. Prevalence of hypertrophic cardiomyopathy in a population of adult Japanese workers as detected by echocardiographic screening. Am J Cardiol 1987; 59: 183184.
2.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. Coronary Artery Risk Development in (Young) Adults. Circulation 1995; 92: 785789.
3.Östman-Smith, I, Wettrell, G, Keeton, B, et al. Age- and gender-specific mortality rates in childhood hypertrophic cardiomyopathy. Eur Heart J 2008; 29: 11601167.
4.Corrado, D, Basso, C, Schiavon, M, Thiene, G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998; 339: 364369.
5.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: 516524.
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: 857858.
7.Östman-Smith, I, Wettrell, 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: 18131833.
8.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: 632642.
9.Wilson, J, Jungner, G. Principles and Practice of Screening for Disease. World Health Organisation, Public Health Papers, Geneva, 1968.
10.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: 28072816.
11.Maron, BJ, McKenna, W, Danielson, G, et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 2003; 42: 16871713.
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. 2006. Socialstyrelsen, Stockholm.
13.Bratt, EL, Ostman-Smith, I, Sparud-Lundin, C, Axelsson, AB. Parents’ experiences of having an asymptomatic child diagnosed with hypertrophic cardiomyopathy through family screening. Cardiol Young 2011; 21: 814.
14.Meleis, AI, Sawyer, LM, Im, EO, Hilfinger Messias, DK, Schumacher, K. Experiencing transitions: an emerging middle-range theory. ANS Adv Nurs Sci 2000; 23: 1228.
15.Krippendorff, K. Content Analysis: An Introduction to its Methodology. Sage, Thousand Oaks, California, 2004.
16.Graneheim, UH, Lundman, B. Qualitative content analysis in nursing research: concepts, procedures and measures to achieve trustworthiness. Nurse Educ Today 2004; 24: 105112.
17.World Medical Association. Declaration of Helsinki. Ethical Principles for Medical Research Involving Human Subjects. The World Medical Association 1964, Helsinki, Finland.
18.Clark, AM. Qualitative research: what it is and what it can contribute to cardiology in the young. Cardiol Young 2009; 19: 135144.
19.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; 138A: 107112.
20.Meulenkamp, TM, Tibben, A, Mollema, ED, et al. Predictive genetic testing for cardiovascular diseases: impact on carrier children. Am J Med Genet 2008; 146A: 31363146.
21.Smets, EM, Stam, MM, Meulenkamp, TM, et al. Health-related quality of life of children with a positive carrier status for inherited cardiovascular diseases. Am J Med Genet 2008; 146A: 700707.
22.Luyckx, K, Goossens, E, Van Damme, C, Moons, P. Identity formation in adolescents with congenital cardiac disease: a forgotten issue in the transition to adulthood. Cardiol Young 2011; 21: 110.
23.Kortesluoma, RL, Hentinen, M, Nikkonen, M. Conducting a qualitative child interview: methodological considerations. J Adv Nurs 2003; 42: 434441.
24.Docherty, S, Sandelowski, M. Interviewing children. Res Nurs Health 1999; 22: 177185.
25.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: 480487.

Keywords

Metrics

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed