Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation.

Autor: van den Heuvel L; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.; Department of Clinical Genetics, Amsterdam UMC (Location AMC), Amsterdam, The Netherlands.; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Netherlands Heart Institute, Utrecht, The Netherlands., Do J; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Yeates L; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Burns C; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Semsarian C; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Ingles J; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
Jazyk: angličtina
Zdroj: Journal of genetic counseling [J Genet Couns] 2024 Apr; Vol. 33 (2), pp. 361-369. Date of Electronic Publication: 2023 May 29.
DOI: 10.1002/jgc4.1733
Abstrakt: Sudden cardiac death (SCD) is a devastating event for the family and the community, especially when it occurs in a young person (<45 years). Genetic heart diseases, including cardiomyopathies and primary arrhythmia syndromes, are an important cause of SCD in the young. Although cardiogenetic evaluation, that is, clinical evaluation, genetic testing, and psychological support, is increasingly performed after SCD, it is unknown how suddenly bereaved family members experience the process. We aimed to explore the experiences of family members with cardiogenetic evaluation after SCD, and their perception of the process and care received. In-depth interviews were conducted with 18 family members of young people (<45 years old) who died suddenly, including parents, siblings, and partners. The interviews were thematically analyzed by two researchers independently. In total, 18 interviews were conducted from 17 families. The following themes were identified: (1) Experiences with postmortem genetic testing including managing expectations and psychological impact, (2) appreciation of care such as access to genetic counseling and relief following cardiac evaluation of relatives, and (3) need for support including unmet psychological support needs and better coordination of care immediately after the death. Although participants appreciated the opportunity for cardiogenetic evaluation, they also experienced a lack of coordination of cardiogenetic and psychological care. Our findings stress the importance of access to expert multidisciplinary teams, including psychological care, to adequately support these families after a SCD in a young family member.
(© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)
Databáze: MEDLINE
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