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

Published online by Cambridge University Press:  25 January 2012

Ewa-Lena Bratt ,
Carina Sparud-Lundin ,
Ingegerd Östman-Smith  and
Åsa B. Axelsson
Ewa-Lena Bratt*
Affiliation:
Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Paediatric Cardiology, Queen Silvia Children's Hospital, Gothenburg, Sweden
Carina Sparud-Lundin
Affiliation:
Institute of Health and Care Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Ingegerd Östman-Smith
Affiliation:
Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Paediatric Cardiology, Queen Silvia Children's Hospital, Gothenburg, Sweden
Åsa B. Axelsson
Affiliation:
Institute of Health and Care Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
*
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
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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.

Keywords

Adolescencechildhoodcontent analysishypertrophic cardiomyopathyinterviewpsychosocial consequencestransitionfamily screeninginherited cardiac disease
Type
Original Article
Information
Cardiology in the Young , Volume 22 , Issue 5 , 13 September 2012 , pp. 528 - 535
Copyright
Copyright © Cambridge University Press 2012

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