Cardiology in the Young

Original Articles

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

Ewa-Lena Bratta1a2 c1, Ingegerd Östman-Smitha1a2, Carina Sparud-Lundina3 and B. Åsa Axelssona3

a1 Department of Paediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

a2 Department of Paediatric Cardiology, The Queen Silvia Children’s Hospital, Gothenburg, Sweden

a3 Institute of Health and Care Sciences, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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.

(Received December 01 2009)

(Accepted July 25 2010)

(Online publication October 01 2010)

Correspondence:

c1 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