Quality of life metrics in arrhythmogenic right ventricular cardiomyopathy patients: The impact of age, shock and sex

2017 ◽  
Vol 248 ◽  
pp. 216-220 ◽  
Author(s):  
Ashley C. Rhodes ◽  
Brittney Murray ◽  
Crystal Tichnell ◽  
Cynthia A. James ◽  
Hugh Calkins ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
The Impact

scholarly journals 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?

2021 ◽  
pp. 1-8
Author(s):  
Cassidy Brothers ◽  
Holly Etchegary ◽  
Fiona Curtis ◽  
Charlene Simmonds ◽  
Jim Houston ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Psychological Distress ◽  
Right Ventricular ◽  
Genetic Screening ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Population Based ◽  
Ventricular Cardiomyopathy ◽  
Health Related Qol ◽  
Health Related

<b><i>Purpose:</i></b> We have identified 27 families in Newfoundland and Labrador (NL) with the founder variant <i>TMEM43</i> 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 <i>TMEM43</i> p.S358L population-based genetic screening (PBGS) in this Canadian province. <b><i>Methods:</i></b> A prospective cohort study assessed attitudes, psychological distress, and health-related quality of life (QOL) in unselected individuals who underwent genetic screening for the <i>TMEM43</i> p.S358L variant. Participants (<i>n</i> = 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). <b><i>Results:</i></b> No variant-positive carriers were identified. Of those screened through a telephone questionnaire, &#x3e;95% felt positive about population-genetic screening for <i>TMEM43</i> 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. <b><i>Conclusion:</i></b> Despite some initial anxiety, we show support for PBGS among research subjects who screened negative for the <i>TMEM43</i> p.S358L variant in NL. These findings have implications for future PBGS programs in the province.

Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure

2021 ◽  
pp. jmedgenet-2021-107911
Author(s):  
Alex Hørby Christensen ◽  
Pyotr G Platonov ◽  
Henrik Kjærulf Jensen ◽  
Monica Chivulescu ◽  
Anneli Svensson ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Carrier Status ◽  
Ventricular Cardiomyopathy ◽  
Ventricular Ejection Fraction ◽  
Male Sex ◽  
The Impact

BackgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly caused by desmosomal genetic variants, and clinical hallmarks include arrhythmias and systolic dysfunction. We aimed at studying the impact of the implicated gene(s) on the disease course.MethodsThe Nordic ARVC Registry holds data on a multinational cohort of ARVC families. The effects of genotype on electrocardiographic features, imaging findings and clinical events were analysed.ResultsWe evaluated 419 patients (55% men), with a mean follow-up of 11.2±7.4 years. A pathogenic desmosomal variant was identified in 62% of the 230 families: PKP2 in 41%, DSG2 in 13%, DSP in 7% and DSC2 in 3%. Reduced left ventricular ejection fraction (LVEF) ≤45% on cardiac MRI was more frequent among patients with DSC2/DSG2/DSP than PKP2 ARVC (27% vs 4%, p<0.01). In contrast, in Cox regression modelling of patients with definite ARVC, we found a higher risk of arrhythmias among PKP2 than DSC2/DSG2/DSP carriers: HR 0.25 (0.10–0.68, p<0.01) for atrial fibrillation/flutter, HR 0.67 (0.44–1.0, p=0.06) for ventricular arrhythmias and HR 0.63 (0.42–0.95, p<0.05) for any arrhythmia. Gene-negative patients had an intermediate risk (16%) of LVEF ≤45% and a risk of the combined arrhythmic endpoint comparable with DSC2/DSG2/DSP carriers. Male sex was a risk factor for both arrhythmias and reduced LVEF across all genotype groups (p<0.01).ConclusionIn this large cohort of ARVC families with long-term follow-up, we found PKP2 genotype to be more arrhythmic than DSC2/DSG2/DSP or gene-negative carrier status, whereas reduced LVEF was mostly seen among DSC2/DSG2/DSP carriers. Male sex was associated with a more severe phenotype.

Different arrhythmic prognosis in high-risk arrhythmogenic right ventricular cardiomyopathy according to the indication of the defibrillator

2019 ◽  
Author(s):  
Amalio Ruiz-Salas ◽  
Isabel Navarro-Arce ◽  
Carmen Medina-Palomo ◽  
Alberto Barrera-Cordero ◽  
Manuel Jiménez-Navarro ◽  
...  
Keyword(s):  
Heart Failure ◽  
Primary Prevention ◽  
High Risk ◽  
Secondary Prevention ◽  
Right Ventricular ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Risk Category ◽  
Ventricular Cardiomyopathy ◽  
The Impact

Abstract Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC/D) is an inherited cardiomyopathy characterized by ventricular arrhythmias and heart failure. The aim of our study was to analyze the impact of the ICD indication in the prognosis of patients with high-risk ARVC/D according to the consensus document. Methods The high-risk category includes patients who experienced cardiac arrest due to sustained ventricular tachycardia or ventricular fibrillation and patients with severe right or left ventricular dysfunction. We included 41 patients with high-risk ARVC/D: 33 in secondary prevention and 8 in primary prevention. Results We followed 41 patients during 6.37 ± 4.88 years. Twenty-six patients (63.4%) had at least one appropriate arrhythmic event: 24 p (72.7%) in secondary prevention and 2 p (25%) in primary prevention; p=0.02. Twenty-four patients (72.7%) in secondary prevention and five (62.5%) in primary prevention had a cardiovascular event such as arrhythmias, admission due to heart failure, heart transplantation or cardiovascular death. Conclusions High-risk ARVC/D patients had a high number of cardiovascular events, but their nature and treatment were different. Arrhythmic prognosis was worse in secondary prevention and most of the events found in primary prevention were related to heart failure and, therefore, without benefit of the ICD.

scholarly journals Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria

2020 ◽  
Author(s):  
Sarah Costa ◽  
Argelia Medeiros-Domingo ◽  
Alessio Gasperetti ◽  
Deniz Akdis ◽  
Wolfgang Berger ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Genetic Variants ◽  
Genetic Variant ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Accurate Determination ◽  
Disease Status ◽  
Ventricular Cardiomyopathy ◽  
Genetic Test Results ◽  
The Impact

Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy, which is associated with life-threatening ventricular arrhythmias. Approximately 60% of patients carry a putative disease-causing genetic variant, but interpretation of genetic test results can be challenging. The aims of this study were to systematically reclassify genetic variants in patients with ARVC and to assess the impact on ARVC diagnosis. Methods - This study included patients from the Multicenter Zurich ARVC Registry who hosted a genetic variant deemed to be associated with the disease. Reclassification of pathogenicity was performed according to the modified 2015 American College of Medical Genetics (ACMG) criteria. ARVC diagnosis (categories: definite, borderline, possible) based on the 2010 Task Force Criteria (TFC) was reclassified after genetic re-adjudication. Results - In 79 patients bearing 80 unique genetic variants, n=47 (58.8%) genetic variants were reclassified, and reclassification was judged to be clinically relevant in n=33 (41.3%). Variants in plakophilin-2 ( PKP2 ) were shown to reclassify less frequently as compared to other genes ( PKP2 , n=1, 8.3%; desmosomal non- PKP2 , n=20, 66.7%; non-desmosomal, n=26, 68.4%) (p=0.001 for overall comparison; PKP2 vs desmosomal non- PKP2 , p=0.001; PKP2 vs non-desmosomal, p< 0.001). Genetic reclassification impacted ARVC diagnosis. Eight patients (10.1%) were downgraded from definite to borderline/possible disease at the time of initial genetic testing as well as last follow-up, respectively. Separate genetic reclassification in family members led to downgrading of n=5 (38.5%) of variants. Conclusions - Given that approximately half of genetic variants were reclassified, with 10.1% of patients losing their definite disease status, accurate determination of variant pathogenicity is of utmost importance in the diagnosis of ARVC.

Abstract 164: β-adrenergic Stimulation Exacerbates Preclinical Arrhythmogenic Right Ventricular Cardiomyopathy Due To Desmoplakin Mutation

2014 ◽  
Vol 115 (suppl_1) ◽  
Author(s):  
Subat Turdi ◽  
Nan Gong ◽  
Jeanne James ◽  
Patrick Winters ◽  
Lori Stanton ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Interstitial Fibrosis ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Similar Degree ◽  
Histopathological Analysis ◽  
Adrenergic Stimulation ◽  
Ventricular Cardiomyopathy ◽  
The Impact ◽  
Isoproterenol Infusion

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with ventricular arrhythmias and sudden cardiac death. We previously demonstrated that cardiac-specific overexpression of human mutant desmoplakin (DSPR2834H) leads to ARVC in mice at 6 months of age. However, the potential role and mechanism(s) of DSP in preclinical ARVC under cardiac stress remains unclear. Objectives: This study is aimed to elucidate the impact of DSP in the development of ARVC under adrenergic stimulation. Methods: Three-month-old non-transgenic (NTg), wild-type DSP (Tg-DSPWT) and Tg-DSPR2834H mice without obvious signs of ARVC, including right and left ventricular dysfunction, arrhythmias, were infused with either vehicle or isoproterenol (30mg/kg/d) for 2 weeks using mini-osmotic pumps. During isoproterenol infusion, electrocardiography (ECG) was monitored daily on conscious mice. Echocardiography and cardiac MRI were performed before and after 2-week of isoproterenol infusion. Myocardial tissues from both RV and LV were subjected to cellular, biochemical and histopathological analysis. Results: Isoproterenol resulted in cardiac hypertrophy to a similar degree amongst all genotypes; however, mortality occurred only in Tg-DSPR2834H mice. Vehicle-treated mice from all genotypes showed largely normal ECGs, whereas isoproterenol led to various types of arrhythmia in Tg-DSPR2834H mice including ventricular tachycardia and QT prolongation. Echocardiography analysis revealed LV dysfunction (decreased factional shortening) in isoproterenol-treated Tg-DSPR2834H mice compared to other treatment groups. Interstitial fibrosis and lipid infiltration was prominent in the Tg-DSPR2834H myocardium. MRI analysis is being performed to understand the RV and LV geometry and function. Conclusion: Our preliminary data confirms the essential role of desmoplakin in response to adrenergic stimulation. Studies investigating the electrophysiological, geometrical and cellular mechanisms of the pro-arrhythmic nature of DSPR2834H dysfunction are ongoing which may ultimately provide critical experimental data on prevention of asymptomatic preclinical ARVC in humans.

Arrhythmias right ventricular cardiomyopathy and sports activity: from molecular pathways in diseased hearts to new insights into the athletic heart mimicry

2020 ◽  
Author(s):  
Alessio Gasperetti ◽  
Cynthia A James ◽  
Marina Cerrone ◽  
Mario Delmar ◽  
Hugh Calkins ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Phenotypic Expression ◽  
Disease Diagnosis ◽  
Inherited Disease ◽  
Ventricular Cardiomyopathy ◽  
Sports Activity ◽  
Clinical Consequences ◽  
The Impact

Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease associated with a high risk of sudden cardiac death. Among other factors, physical exercise has been clearly identified as a strong determinant of phenotypic expression of the disease, arrhythmia risk, and disease progression. Because of this, current guidelines advise that individuals with ARVC should not participate in competitive or frequent high-intensity endurance exercise. Exercise-induced electrical and morphological para-physiological remodelling (the so-called ‘athlete’s heart’) may mimic several of the classic features of ARVC. Therefore, the current International Task Force Criteria for disease diagnosis may not perform as well in athletes. Clear adjudication between the two conditions is often a real challenge, with false positives, that may lead to unnecessary treatments, and false negatives, which may leave patients unprotected, both of which are equally inacceptable. This review aims to summarize the molecular interactions caused by physical activity in inducing cardiac structural alterations, and the impact of sports on arrhythmia occurrence and other clinical consequences in patients with ARVC, and help the physicians in setting the two conditions apart.

P2247Pregnancies and childbirth in women with arrhythmogenic right ventricular cardiomyopathy are associated with low risk of ventricular arrhythmias

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
P G Platonov ◽  
J Carlson ◽  
I Castrini ◽  
A Svensson ◽  
M K Christiansen ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Ventricular Arrhythmias ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Cardiomyopathy ◽  
Free Survival ◽  
Child Birth ◽  
Mutation Carriers ◽  
Nulliparous Women ◽  
The Impact

Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with a risk of ventricular arrhythmias (VA) and sudden cardiac death (SCD). Even though female patients with ARVC are considered to be at lower risk of VA, the impact of pregnancy and child birth on the arrhythmic risk and development of arrhythmic substrate in the context of ARVC remains insufficiently studied. Objective To assess the risk of VA in relation to childbirth in women with ARVC and the impact of multiple pregnancies on progression of arrhythmic manifestations of the disease. Methods The study included 186 females with definite ARVC (n=107, 70 probands) or unaffected mutation-carriers (n=79) with median age at the end of follow up of 48 (IQR 34–60) years. Seventeen women had 1, 59 had 2 and 29 had ≥3 child births by the age of 40 years. VA was defined as ventricular tachycardia, appropriate ICD therapy, aborted cardiac arrest or SCD. Proportions of patients who experienced VA by the age of 40 years were compared between nulliparous women (n=81) and those with reported child births (n=105). VA-free survival after accomplished pregnancies was assessed for women ≥40 years of age (n=119). Cumulative probability of VA for each pregnancy (n=230) was assessed from conception through 2 years after child birth and compared between those that occurred before ARVC diagnosis (Pre-Ds, n=164), after it (Post-Ds, n=11) and in unaffected mutation carriers (No-Ds, n=55). Results The nulliparous women had lower age at ARVC diagnosis (37 vs 44, p=0.023) and more often had VA before the age of 40 (31% vs 13%, p=0.003) while the number of child births was not related to the prevalence of VA (18% among women with 1 childbirth, 12% in those with 2 and 14% in those with 3 or more, ns). Three women suffered SCD before the age of 40. VA-free survival after 40 years did not differ between nulliparous and those who gave birth (Figure A). Only four pregnancy-related events were documented (Figure B): 1 in the Post-Ds group and three in the Pre-Ds group. No pregnancy-related events were reported in the unaffected mutation carriers. Conclusion In this Scandinavian cohort of women with ARVC we observed no indication of an increased VA risk either associated with pregnancies or during long-term follow up after the last child birth.

Self-Compassion and Quality of Life in Adults Who Stutter

2020 ◽  
Vol 29 (4) ◽  
pp. 2097-2108
Author(s):  
Robyn L. Croft ◽  
Courtney T. Byrd
Keyword(s):  
Quality Of Life ◽  
Social Connectedness ◽  
The Self ◽  
Future Research ◽  
Self Compassion ◽  
Adults Who Stutter ◽  
And Gender ◽  
Relationship Of ◽  
The Impact

Purpose The purpose of this study was to identify levels of self-compassion in adults who do and do not stutter and to determine whether self-compassion predicts the impact of stuttering on quality of life in adults who stutter. Method Participants included 140 adults who do and do not stutter matched for age and gender. All participants completed the Self-Compassion Scale. Adults who stutter also completed the Overall Assessment of the Speaker's Experience of Stuttering. Data were analyzed for self-compassion differences between and within adults who do and do not stutter and to predict self-compassion on quality of life in adults who stutter. Results Adults who do and do not stutter exhibited no significant differences in total self-compassion, regardless of participant gender. A simple linear regression of the total self-compassion score and total Overall Assessment of the Speaker's Experience of Stuttering score showed a significant, negative linear relationship of self-compassion predicting the impact of stuttering on quality of life. Conclusions Data suggest that higher levels of self-kindness, mindfulness, and social connectedness (i.e., self-compassion) are related to reduced negative reactions to stuttering, an increased participation in daily communication situations, and an improved overall quality of life. Future research should replicate current findings and identify moderators of the self-compassion–quality of life relationship.

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