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

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.