Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

Etchegary, Holly; Enright, Glenn; Audas, Rick; Pullman, Daryl; Young, Terry‐Lynn; Hodgkinson, Kathy

doi:10.1038/gim.2015.132

Cited by 7 publications

(5 citation statements)

References 42 publications

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“…We did not identify any carriers of the TMEM43 p.S358L variant and cannot comment on the impact of being identified as a carrier via this method on psychological distress and QOL. It is likely that being identified as a carrier of TMEM43 p.S358L could affect QOL based on the previous research which highlights several areas of concern including employment restrictions, large financial burdens, and insurability post-genetic testing [30]. Furthermore, those screening positive for the TMEM43 p.S358L variant would have to choose whether to have placement of an ICD, which, although demonstrably lifesaving [5], is also known to impact psychological and physical well-being [31,32].…”

Section: Discussionmentioning

confidence: 99%

Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Etchegary

Curtis²,

Simmonds

et al. 2021

Public Health Genomics

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Purpose: We have identified 27 families in Newfoundland and Labrador (NL) with the founder variant TMEM43 p.S358L responsible for 1 form of arrhythmogenic right ventricular cardiomyopathy. Current screening guidelines rely solely on cascade genetic screening, which may result in unrecognized, high-risk carriers who would benefit from preemptive implantable cardioverter-defibrillator therapy. This pilot study explored the acceptability among subjects to TMEM43 p.S358L population-based genetic screening (PBGS) in this Canadian province. Methods: A prospective cohort study assessed attitudes, psychological distress, and health-related quality of life (QOL) in unselected individuals who underwent genetic screening for the TMEM43 p.S358L variant. Participants (n = 73) were recruited via advertisements and completed 2 surveys at baseline, 6 months, and 1 year which measured health-related QOL (SF-36v2) and psychological distress (Impact of Events Scale). Results: No variant-positive carriers were identified. Of those screened through a telephone questionnaire, >95% felt positive about population-genetic screening for TMEM43 p.S358L, though 68% reported some degree of anxiety after seeing the advertisement. There were no significant changes in health-related QOL or psychological distress scores over the study period. Conclusion: Despite some initial anxiety, we show support for PBGS among research subjects who screened negative for the TMEM43 p.S358L variant in NL. These findings have implications for future PBGS programs in the province.

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Section: Discussionmentioning

confidence: 99%

Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Etchegary

Curtis²,

Simmonds

et al. 2021

Public Health Genomics

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“…Interviews covered family experiences of SCD, genetic testing decisions, 22 and the impact of ARVC on psychological well-being, behaviour, and economics. 5 Initial questions were drafted by HE and input from team members resulted in minor changes.…”

Section: The Interviewsmentioning

confidence: 99%

“… 1 – 4 At-risk individuals face a range of clinical and psychosocial issues, including early diagnosis, risks to family members, restriction of physical or employment activities, lifelong clinical surveillance, invasive treatment modalities, and the potential threat of sudden cardiac death (SCD) or heart failure. 2 , 5 …”

Section: Introductionmentioning

confidence: 99%

“…[1][2][3][4] At-risk individuals face a range of clinical and psychosocial issues, including early diagnosis, risks to family members, restriction of physical or employment activities, lifelong clinical surveillance, invasive treatment modalities, and the potential threat of sudden cardiac death (SCD) or heart failure. 2,5 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a clinically difficult to diagnose 6 singlegene disorder which can cause SCD due to ventricular arrhythmias and/or heart failure. For those at high risk of ARVC-related SCD, the implantable cardioverter defibrillator (ICD) is an effective therapy, 4,7 which cardioverts a potentially lethal rhythm back to sinus rhythm.…”

Section: Introductionmentioning

confidence: 99%

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“There are days I wish it wasn’t there, and there’s days I realize I’m lucky”: A qualitative study of psychological sequelae to the implantable cardioverter defibrillator as a treatment for the prevention of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy

Etchegary

Pullman

Connors

et al. 2017

JRSM Cardiovascular Disease

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Objectives Arrhythmogenic right ventricular cardiomyopathy caused by a TMEM43 p.S358L mutation is a fully penetrant autosomal dominant cause of sudden cardiac death where prophylactic implantable cardioverter defibrillator therapy significantly reduces mortality by returning lethal cardiac rhythms to normal. This qualitative study assessed the psychological ramifications of the implantable cardioverter defibrillator on recipients, their spouses and their mutation negative siblings. Design Qualitative interview study. Participants Twenty-one individuals (nine mutation positive, eight mutation negative and four spouses) from 15 families completed semi-structured interviews. Results No theoretical assumptions about the data were made: inductive sub-coding was accomplished with the constant comparison method and cohesive themes across all respondent interviews were determined. All interviewees had a family history of sudden cardiac death and appropriate implantable cardioverter defibrillator therapy in themselves or family members. Average length of time with an implantable cardioverter defibrillator was 10 years. Major themes included: (1) acceptance and gratitude, (2) grudging acceptance, (3) psychological effects (on emotional and psychological well-being; functioning of the broader family unit; and relationships), and (4) practical concerns (on clothes, travel, loss of driving licence and the effects of an implantable cardioverter defibrillator discharge). These affected all family members, regardless of mutation status. Conclusions Despite the survival advantage of implantable cardioverter defibrillator therapy, the intervention carries psychological and practical burdens for family members from kindreds manifesting p.S358L TMEM43 ARVC that does not appear to dissipate with time. A move towards integrating psychology services with the cardiac genetics clinic for the extended family may provide benefit.

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“…For the ARVC/D population, the ICD is life-saving; without an ICD, the first symptom of heart failure might be death. Several studies have examined the experience of living with ARVC/D in NL (Etchegary et al, 2016; Etchegary et al, 2015; Manuel & Brunger, 2014, 2015); however, findings have not specifically reported on what life is like to have an ICD. For nurses to provide care that is tailored to the needs of this population, they must have a fuller understanding of how these individuals adjust to and cope with having an ICD within the context of a genetic condition such as ARVC/D.…”

mentioning

confidence: 99%

Embodying a New Meaning of Being At Risk

Manuel

2016

Global Qualitative Nursing Research

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Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is a genetic condition that can cause fatal arrhythmias. The implantable cardioverter defibrillation (ICD) is a primary treatment for ARVC/D. Using a grounded theory approach, this study examines the experiences of 15 individuals living with an ICD. The ability to cope with and adjust to having an ICD is influenced by the acceptance of the ICD as something needed to survive, an understanding of the ICD’s function, existing support networks, and ones’ ability to manage everyday challenges. Coping well requires reshaping ideas about the meaning of being at risk and understanding how the ICD fits into that changing personal risk narrative. A thorough understanding of the unique needs of individuals with ARVC/D and of the specific factors contributing to the psychosocial distress related to having an ICD (vs. having the disease itself) is needed. Nurses must be prepared to provide ongoing support and education to this population.

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Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

Cited by 7 publications

References 42 publications

Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by <b><i>TMEM43</i></b> p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by <b><i>TMEM43</i></b> p.S358L: Is It Time to Offer Population-Based Genetic Screening?

“There are days I wish it wasn’t there, and there’s days I realize I’m lucky”: A qualitative study of psychological sequelae to the implantable cardioverter defibrillator as a treatment for the prevention of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy

Embodying a New Meaning of Being At Risk

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