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Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

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Journal of Genetic Counseling

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmogenic disease with a high risk of sudden cardiac death. The impact on health-related quality of life (HR-QoL) and psychosocial outcomes is not known. We sought to provide the first description of HR-QoL and psychosocial wellbeing of adults with CPVT, parents of affected children and at-risk relatives. Participants were recruited through the Australian Genetic Heart Disease Registry and invited to complete a cross-sectional survey comprising a number of validated scales and open-ended questions. Thirty-five participants completed surveys (response rate 65%), including 19 with CPVT, 10 unaffected parents of a child with CPVT, and 7 at-risk relatives (one participant considered patient and parent). Young patients <40 years were significantly more likely to report anxiety (p = 0.04), depression (p = 0.03) and posttraumatic stress symptoms (p = 0.02) compared to older CPVT patients. Further, young patients with an implantable cardioverter defibrillator (ICD) reported significantly worse device-related distress (p = 0.04) and shock anxiety (p = 0.003). Patients with a genetic diagnosis had worse psychological adaptation than those patients without a gene result. Parents perceived their affected children to have poor quality of life across all subdomains compared to healthy age-matched children, however quality of life of parents and at-risk relatives was comparable to population norms. Ongoing psychosocial care is required for young people with CPVT. Those with an ICD and/or undergoing genetic testing may require additional support. The challenges of CPVT management should extend beyond the clinical and genetic aspects of care to incorporate greater psychosocial support, and further reinforces the need for a multidisciplinary approach to care.

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Acknowledgements

This work was conducted by ER as a requirement of the Master of Genetic Counseling (University of Sydney) under the supervision of JI.

Funding

JI is the recipient of a National Heart Foundation of Australia Future Leader Fellowship (#100833). CS is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship (#1059156). This study is funded in part by an NHMRC Project Grant (#1059515).

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Authors and Affiliations

  1. Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag 6, Newtown, NSW, 2042, Australia

    Ebony Richardson, Catherine Spinks, Christopher Semsarian & Jodie Ingles

  2. Sydney Medical School, University of Sydney, Sydney, NSW, Australia

    Ebony Richardson, Christopher Semsarian & Jodie Ingles

  3. Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia

    Catherine Spinks, Christopher Semsarian & Jodie Ingles

  4. Royal Children’s Hospital, Flemington Rd, Parkville, Melbourne, VIC, Australia

    Andrew Davis

  5. The Heart Centre for Children, The Children’s Hospital, Westmead, NSW, Australia

    Christian Turner

  6. Department of Cardiology, Royal Brisbane and Women’s Hospital, Brisbane, QLD, Australia

    John Atherton

  7. School of Medicine, University of Queensland, Brisbane, QLD, Australia

    John Atherton

  8. Genetic Health Queensland, Royal Brisbane & Women’s Hospital, Herston, Brisbane, QLD, Australia

    Julie McGaughran

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  1. Ebony Richardson
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  2. Catherine Spinks
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Correspondence to Jodie Ingles.

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Conflict of Interest

Ebony Richardson, Catherine Spinks, Andrew Davis, Christian Turner, John Atherton, Julie McGaughran, Christopher Semsarian and Jodie Ingles declare that they have no conflict of interest.

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This study was approved by the Sydney South West (RPAH Zone) Human Research Ethics Committee.

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Additional informed consent was obtained from all patients for which identifying information is included in this article.

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All institutional and national guidelines for the care and use of laboratory animals were followed.

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Richardson, E., Spinks, C., Davis, A. et al. Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. J Genet Counsel 27, 549–557 (2018). https://doi.org/10.1007/s10897-017-0152-1

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