“Am I going to die today?” An investigation into the psychosocial impact of Long QT Syndrome, healthcare experiences and the genetic testing process

Abstract

Background: LQTS is an inherited cardiac condition that imposes serious risks, including sudden death, and a restricted lifestyle. The limited international research on psychosocial responses to the condition, and to the genetic testing process, indicates high levels of anxiety and depression, negative effects on quality of living and significant problems accessing adequate medical care. To date, no studies on the psychosocial impact of LQTS have been completed in New Zealand. Aims: The aims of this study were: (i) to describe the medical and psychosocial factors impacting adjustment to LQTS in New Zealand patients and families, and (ii) to compare the perspectives of clinicians and patients, of asymptomatic and symptomatic patients, and of adolescent and adult patients. Methodology: In-depth semi-structured interviews were conducted with fourteen LQTS gene positive outpatients (three adolescent and eleven adult) and eight cardiac clinicians from New Zealand’s specialist national LQTS service. These were analysed using thematic analysis. Results: Many patients described positive experiences with the tertiary care service that the national specialist clinicians provided, while some described significant distress in relation to the healthcare they received in primary and tertiary care. Differences were identified between symptomatic and asymptomatic presentations, with symptomatic individuals describing significantly more distress in more areas of psychosocial functioning than their asymptomatic counterparts. Asymptomatic adolescents described significant impacts on their quality of life as a consequence of the restrictions imposed to reduce risk of sudden death. Most of the psychosocial and medical challenges identified by the clinicians were consistent with those described by patients. Many patients described using information and positive risk appraisals to help them cope with being at constant risk of sudden death. Conclusion: The collective experiences described have important implications for healthcare services, especially regarding targeted psychological support and improved service implementation.