Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims

Werf, Christian van der; Onderwater, Astrid; Langen, Irene M. van; Smets, Ellen M. A.

doi:10.1038/ejhg.2013.126

Cited by 31 publications

(21 citation statements)

References 21 publications

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“…Stringent lifestyle restrictions are recommended to avoid exertion and emotional stress, known triggers for cardiac events (Cheung et al 2016;Maron et al 2004;Priori et al 2015). CPVT has historically been difficult to diagnose, with misdiagnosis and long delays to diagnosis being described in many cases (Kozlovski et al 2014;Priori et al 2002;Schwartz et al 2013). Genetically, CPVT is typically an autosomal dominant disease with over 200 variants in 5 genes (RYR2, CASQ, CALM1, TRDN and KCNJ2) implicated, with causative variants in the ryanodine receptor 2 gene (RYR2) accounting for the majority of cases (Jabbari et al 2013).…”

Section: Introductionmentioning

confidence: 99%

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

Richardson

Spinks

Davis

et al. 2017

Journal of Genetic Counseling

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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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Section: Introductionmentioning

confidence: 99%

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

Richardson

Spinks

Davis

et al. 2017

Journal of Genetic Counseling

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“…Qualitative research has suggested that a family history of SCA/D is a motivator for individuals in pursuing both genetic testing and cardiac evaluation (Manuel and Brunger 2014;van der Werf et al 2014)]. This study did not find a significant association between family history of SCA/D and uptake of genetic testing, regardless of the relationship with the proband.…”

Section: Family History Of Sudden Cardiac Arrest/deathmentioning

confidence: 55%

Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy

Christian

Atallah

Clegg

et al. 2017

Journal of Genetic Counseling

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Predictive genetic testing in minors should be considered when clinical intervention is available. Children who carry a pathogenic variant for an inherited arrhythmia or cardiomyopathy require regular cardiac screening and may be prescribed medication and/or be told to modify their physical activity. Medical genetics and pediatric cardiology charts were reviewed to identify factors associated with uptake of genetic testing and cardiac evaluation for children at risk for long QT syndrome, hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy. The data collected included genetic diagnosis, clinical symptoms in the carrier parent, number of children under 18 years of age, age of children, family history of sudden cardiac arrest/death, uptake of cardiac evaluation and if evaluated, phenotype for each child. We identified 97 at risk children from 58 families found to carry a pathogenic variant for one of these conditions. Sixty six percent of the families pursued genetic testing and 73% underwent cardiac screening when it was recommended. Declining predictive genetic testing was significantly associated with genetic specialist recommendation (p < 0.001) and having an asymptomatic carrier father (p = 0.006). Cardiac evaluation was significantly associated with uptake of genetic testing (p = 0.007). This study provides a greater understanding of factors associated with uptake of genetic testing and cardiac evaluation in children at risk of an inherited arrhythmia or cardiomyopathy. It also identifies a need to educate families about the importance of cardiac evaluation even in the absence of genetic testing.

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“…13,14 Relatives of young SCD victims in the Netherlands described ongoing worry and a desire to prevent a subsequent fatal event in remaining children and grandchildren. 15 While the ICD may be life-saving, it comes with its own psychosocial considerations. Psychological and quality of life (QOL) implications of ICD therapy have been addressed in older patients with heart disease who generally cope well with an ICD, although a subgroup will experience psychological difficulties, including post traumatic stress.…”

Section: Introductionmentioning

confidence: 99%

“…In the NL TMEM43 p.S358L population, ICD therapy has significantly improved the survival of affected individuals and is an essential prophylactic (diagnosis based on positive mutation status alone) first-line treatment for males. 11 A small number of qualitative studies with ARVC families segregating the TMEM43 p.S358L mutation 12 and other cardiomyopathies [13][14][15] highlight general psychosocial burdens for at-risk families. Experiential knowledge of loss and death was clear, 12 while interviews with individuals tested for HCM or Long QT syndrome revealed parents' concern about their children's futures.…”

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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Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims

Cited by 31 publications

References 21 publications

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood

Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy

“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

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