| 1. |
- Aneq Åström, Meriam, et al.
(author)
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Novel plakophilin2 mutation. Three generation family with arrhythmogenic right ventricular cardiomyopathy
- 2012
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In: Scandinavian Cardiovascular Journal. - : Informa Healthcare. - 1401-7431 .- 1651-2006. ; 46:2, s. 72-75
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Journal article (peer-reviewed)abstract
- Objectives: The autosomal dominant form of arrhythmogenic right ventricular cardiomyopathy (ARVC)has been linked to mutations in desmosomal proteins. Different studies have shown that amutation in plakophilin-2 (PKP 2) is a frequent genetic cause for ARVC. We describe a newmutation in the PKP2 gene, the genotype-phenotype variation in this mutation and its clinicalconsequences. Design: Individuals in a three generation family were investigated after the sudden cardiac death of a young male. Clinical evaluation, electrocardiography, echocardiography, magnetic resonance imaging, endomyocardial biopsy and genetic testing were performed. Results: A novel heterozygote mutation, a c.368G>A transition, located in exon 3 of the PKP2 gene was found (p.Trp123X). The phenotype was characterized by arrhythmia at an early age in some individuals, with mild abnormalities on imaging. However a relative carrying this mutation, with positive findings on endomyocardial biopsy had an otherwise normal phenotype, for 16 years, whereas a relative fulfilling the modified Task Force Criteria for ARVC turned out to be a non-carrier. Conclusions: This shows the variable penetrance and phenotypic expression in ARVC and highlights the need of genetic testing as well as a thorough phenotype examination as a part of the investigations in ARVC pedigrees.
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| 2. |
- Fluur, Christina, et al.
(author)
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Patients' experiences of the implantable cardioverter defibrillator (ICD); with a focus on battery replacement and end-of-life issues
- 2013
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In: Heart & Lung. - Philadelphia, PA : Mosby. - 0147-9563 .- 1527-3288. ; 42:3, s. 202-207
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Journal article (peer-reviewed)abstract
- Background: ICD deactivation at end-of-life is technically uncomplicated. However, it may present a psychological challenge to healthcare professionals, patients, and next-of-kin. Objective: This study explored patients' experiences of complex issues of battery replacement and deactivation of the ICD. Methods: Semistructured interviews were administered to 37 medically stable ICD-recipients. Results: The ICD-recipients lived with an uncertain illness trajectory, but the majority had not reflected on battery replacement or elective ICD deactivation. Healthcare professionals had rarely discussed these issues with patients. However, this was consistent with the ICD-recipients' wishes. Many patients had misconceptions about the lifesaving capacity of the ICD and the majority stated that they would not choose to deactivate the ICD, even if they knew they were terminally ill, and it meant they would receive multiple shocks. Conclusion: The ICD-recipients tended not to think about end-of-life issues, which imply that many patients reach the final stages of life unaware of the option of ICD deactivation. © 2013 Elsevier Inc.
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| 3. |
- Fluur, Christina, et al.
(author)
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Spouses’ reflections on Implantable Cardioverter Defibrillator treatment with focus on the future and the end-of-life : a qualitative content analysis
- 2014
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In: Journal of Advanced Nursing. - Chichester, West Sussex : Wiley-Blackwell. - 0309-2402 .- 1365-2648. ; 70:8, s. 1758-1769
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Journal article (peer-reviewed)abstract
- Aim. To explore future reflections of spouses living with an implantable cardioverter defibrillator recipient with focus on the end-of-life phase in an anticipated palliative phase.Background. A history of or risk for life-threatening arrhythmias may require an implantable cardioverter defibrillator. Despite the life-saving capacity of the device, eventually life will come to an end. As discussion about preferences of shock therapy at end-of-life phase seldom takes place in advance, the implantable cardioverter defibrillator recipients may face defibrillating shocks in the final weeks of their lives, adding to stress and anxiety in patients and their families.Design. Qualitative study with in-depth interviews analysed with a content analysis.Methods. Interviews were performed with 18 spouses of medically stable implantable cardioverter defibrillator recipients during 2011–2012.Results. The spouses described how they dealt with changes in life and an uncertain future following the implantable cardioverter defibrillator implantation. Six subcategories conceptualized the spouses' concerns: Aspiring for involvement; Managing an altered relationship; Being attentive to warning signs; Worries for deterioration in the partner's health; Waiting for the defibrillating shock; and Death is veiled in silence.Conclusion. Despite the partner's serious state of health; terminal illness or death and the role of the device was seldom discussed with healthcare professionals or the implantable cardioverter defibrillator recipient. Open and honest communication was requested as important to support coping with an unpredictable life situation and to reduce worries and uncertainty about the future and end-of-life. © 2013 John Wiley & Sons Ltd.
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| 4. |
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| 5. |
- Johansson, Ingela, et al.
(author)
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Patients' experiences of the ICD from a life perspective; with focus on end-of-life issues
- 2012
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In: European Journal of Cardiovascular Nursing. - London : Sage Publications. - 1474-5151 .- 1873-1953. ; 11:Suppl. 1, s. S17-S17
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Journal article (peer-reviewed)abstract
- Background: The implantable cardioverter defibrillator (ICD) deliver life saving therapy in patients who have survived sudden cardiac death (SCD) or are at such risk due to underlying heart condition. In spite of the life saving capacity of the ICD, eventually underlying heart disease, or a non-cardiac disease, will end the life of the patient. Around 30 % of all patients will experience one or multiple ICD shocks in the final weeks of their lives, adding to stress and anxiety in patients and their family.Aim: To describe ICD patients´ conceptions on end-of-life (EOL) issues, with special reference to deactivation or non replacement of the ICD.Material and Method: Data was collected during 2011 at five Swedish hospitals. The population consisted of 37 ICD recipients with the exclusion of those nearing EOL or with terminal illness. The method was a manifest content analysis approach, based on interviews.Results: The ICD recipients described how they lived with an uncertain illness trajectory, but had not reflected on possible course of events in the future. Lack of deeper understanding of the true lifesaving capacity during the illness trajectory was revealed. Most participants had an overall positive view and focused on the ICD as a way to avoid SCD and had not considered death by other causes. Discussions with the healthcare providers focusing on EOL issues had very seldom taken place. The participants had not reflected on EOL issues earlier; they considered the ICD as something that always should be there as a lifesaver. They wanted to postpone the discussion and decision about deactivation until the very end. When patients were asked to anticipate their preferences if they should be terminally ill, the majority stated that they would not choose to deactivate the ICD, even if they received multiple shocks. This was true for both patients with heart failure who received the ICD for primary prevention, as well as for those who already had survived a SCD.Implication: Despite comprehensive guidelines relating to the issue of ICD and deactivation in EOL, complexities with implementation of the guidelines continue to be raised in clinical practice. Heart Rhythm Society recommend healthcare providers to stepwise discuss the question of deactivation of the ICD during the illness trajectory, the ultimate motivation being the risk for multiple shocks preventing a “peaceful” death. However, our results showed that this is not always the patient’s desire, and in clinical practice these discussions can be both challenging and raise an ethical dilemma. The postponement or total avoidance of the EOL discussion may ultimately lead to problems when death is imminent.Conclusion: Deactivation or not replacing the ICD in terminal illness is seldom brought up for discussion with the healthcare providers. ICD recipients lack deeper understanding of the true life saving capacity of the device during their illness trajectory and tend not to think about EOL matters. Some patients choose not to make a decision at all; others want to prolong life at any price and others, still, face finality and reflect on existential issues. Many ICD recipients reach their final stage of disease unaware of the fact that they have a choice.
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| 6. |
- Strömberg, Anna, et al.
(author)
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ICD Recipients Understanding of Ethical Issues, ICD Function, and Practical Consequences of Withdrawing the ICD in the End-of-Life
- 2014
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In: Pacing and Clinical Electrophysiology. - : Wiley-Blackwell. - 0147-8389 .- 1540-8159. ; 37:7, s. 834-842
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Journal article (peer-reviewed)abstract
- Background: The current international expert consensus statements recommend that clinicians should discuss elective implantable cardioverter defibrillator (ICD) deactivation before implantation of the device, and then consistently during the illness trajectory. However, no previous studies have investigated predictors of ICD patients knowledge about end-of-life issues or whether knowledge influences patients attitudes about deactivation. Methods: This nationwide survey study (n = 3,067) had a cross-sectional correlational design of self-reported data. Participants were recruited from the Swedish ICD and Pacemaker Registry and asked to complete a questionnaire about knowledge in relation to the ICD and end-of-life. Results: Only 79 respondents (3%) scored correctly on all 11 questions. The mean sample score was 6.6 +/- 2.7 out of a maximum score of 11. A total of 835 participants (29%) had an insufficient knowledge when using the 25th percentile as a cutoff. Younger ICD recipients, those cohabiting, male participants, and those who had received shocks, had a generator replacement, or who had discussed illness trajectory with their physician were more likely to have sufficient knowledge on the end-of-life issues. Insufficient knowledge was associated with indecisiveness to make decisions about ICD deactivation in the end-of-life situations, and with favorable attitudes about replacing the ICD even if seriously ill or have reached an advanced age, and keeping the shock therapy of the ICD even in a terminal phase of life when dying from cancer or other serious chronic illnesses. Conclusion: Insufficient knowledge is common among ICD recipients and is associated with attitudes and decisions that may result in a stressful and potentially painful end-of-life situation.
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| 7. |
- Svensson, Anneli, et al.
(author)
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Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant.
- 2016
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In: American journal of cardiovascular disease. - Madison, WI, United States : E-Century Publishing Corporation. - 2160-200X. ; 6:2, s. 55-65
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Journal article (peer-reviewed)abstract
- In this study, the genotype-phenotype correlations in four unrelated families with a PKP2 c.2146-1G>C gene variant were studied. Our primary aim was to determine the carriers that fulfilled the arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnostic criteria of 2010. Our secondary aim was to investigate whether any specific clinical characteristics can be attributed to this particular gene variant. Index patients were assessed using next generation ARVC panel sequencing technique and their family members were assessed by Sanger sequencing targeted at the PKP2 c.2146-1G>C variant. The gene variant carriers were offered a clinical follow-up, with evaluation based on the patient's history and a standard set of non-invasive testing. The PKP2 c.2146-1G>C gene variant was found in 23 of 41 patients who underwent the examination. Twelve of the 19 family members showed "possible ARVC". One with "borderline ARVC" and the rest with "definite ARVC" demonstrated re-polarization disturbances, but arrhythmia was uncommon. A lethal event occurred in a 14-year-old boy. In the present study, no definitive genotype-phenotype correlations were found, where the majority of the family members carrying the PKP2 c.2146-1G>C gene variant were diagnosed with "possible ARVC". These individuals should be offered a long-term follow-up since they are frequently symptomless but still at risk for insidious sudden cardiac death due to ventricular arrhythmia.
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| 8. |
- Thylén, Ingela, et al.
(author)
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Are ICD recipients able to foresee if they want to withdraw therapy or deactivate defibrillator shocks?
- 2013
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In: IJC Heart & Vessles. - : Elsevier. - 2214-7632. ; 1, s. 22-31
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Journal article (peer-reviewed)abstract
- BackgroundExpert consensus statements on management of implantable cardioverter defibrillators (ICDs) emphasize the importance of having discussions about deactivation before and after implantation. These statements were developed with limited patient input. The purpose of this study was to identify the factors associated with patients' experiences of end-of-life discussions, attitudes towards such discussions, and attitudes towards withdrawal of therapy (i.e., generator replacement and deactivation) at end-of-life, in a large national cohort of ICD-recipients.MethodsWe enrolled 3067 ICD-patients, administrating the End-of-Life-ICD-Questionnaire.ResultsMost (86%) had not discussed ICD-deactivation with their physician. Most (69%) thought discussions were best at end-of-life, but 40% stated that they never wanted the physician to initiate a discussion. Those unwilling to discuss deactivation were younger, had experienced battery replacement, had a longer time since implantation, and had better quality-of-life. Those with psychological morbidity were more likely to desire a discussion about deactivation. Many patients (39%) were unable to foresee what to decide about deactivation in an anticipated terminal condition. Women, those without depression, and those with worse ICD-related experiences were more indecisive about withdrawal of therapy. Irrespective of shock experiences, those who could take a stand regarding deactivation chose to keep shock therapies active in many cases (39%).ConclusionsDespite consensus statements recommending discussions about ICD-deactivation at the end-of-life, such discussion usually do not occur. There is substantial ambivalence and indecisiveness on the part of most ICD-patients in this nationwide survey about having these discussions and about expressing desires about deactivation in an anticipated end-of-life situation.
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| 9. |
- Thylén, Ingela, et al.
(author)
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Development and evaluation of the EOL-ICDQ as a measure of experiences, attitudes and knowledge in end-of-life in patients living with an implantable cardioverter defibrillator
- 2014
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In: European Journal of Cardiovascular Nursing. - London, United Kingdom : Oxford University Press (OUP). - 1474-5151 .- 1873-1953. ; 13:2, s. 142-151
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Journal article (peer-reviewed)abstract
- Background: Due to extended indications and resynchronization therapy, many implantable cardioverter defibrillator (ICD) recipients will experience progressive co-morbid conditions and will be more likely to die of causes other than cardiac death. It is therefore important to elucidate the ICD patients' preferences when nearing end-of-life. Instead of avoiding the subject of end-of-life, a validated questionnaire may be helpful to explore patients' experiences and attitudes about end-of-life concerns and to assess knowledge of the function of the ICD in end-of-life. Validated instruments assessing patients' perspective concerning end-of-life issues are scarce. Aim: The purpose of this study was to develop and evaluate respondent satisfaction and measurement properties of the Experiences, Attitudes and Knowledge of End-of-Life Issues in Implantable Cardioverter Defibrillator Patients' Questionnaire' (EOL-ICDQ). Methods: The instrument was tested for validity, respondent satisfaction, and for homogeneity and stability in the Swedish language. An English version of the EOL-ICDQ was validated, but has not yet been pilot tested. Results: The final instrument contained three domains, which were clustered into 39 items measuring: experiences (10 items), attitudes (18 items), and knowledge (11 items) of end-of-life concerns in ICD patients. In addition, the questionnaire also contained items on socio-demographic background (six items) and ICD-specific background (eight items). The validity and reliability properties were considered sufficient. Conclusions: The EOL-ICDQ has the potential to be used in clinical practice and future research. Further studies are needed using this instrument in an Anglo-Saxon context with a sample of English-speaking ICD recipients.
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