scholarly journals Letter by Barison et al Regarding Article, “Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement”

Circulation ◽  
2016 ◽  
Vol 133 (11) ◽  
Author(s):  
Andrea Barison ◽  
Giancarlo Todiere ◽  
Giovanni Donato Aquaro
Keyword(s):  
Right Ventricular ◽  
Consensus Statement ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Ventricular Cardiomyopathy

Abstract 15314: Left Ventricular Dysfunction in Children and Adolescents With Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Paweena Chungsomprasong ◽  
Robert Hamilton ◽  
Wietske Luining ◽  
Shi-Joon Yoo ◽  
Meena Fatah ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Task Force ◽  
Myocardial Dysfunction ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Myocardial Strain ◽  
Young Patients ◽  
Left Ventricular ◽  
Lv Function ◽  
Ventricular Cardiomyopathy ◽  
End Diastolic Volume

Background: Involvement of the left ventricle (LV) is increasingly recognized in adults with arrhythmogenic right ventricular cardiomyopathy (ARVC) but it is unclear whether LV function is compromised in children with this condition. The aim of this study was examine myocardial contractility in pediatric patients with suspected ARVC. Methods: For this retrospective study, patients with a work-up for ARVC were classified into ‘no’, ‘possible’, ‘borderline’ or ‘definite’ ARVC according to the revised Task Force Criteria (rTFC). Ventricular size and function as well as LV myocardial strain and torsion were measured by cardiac magnetic resonance (CMR). Results: A total of 142 patients were enrolled, of whom 58 (41%) had no, 32 (23%) possible, 29 (20%) borderline and 23 (16%) definite ARVC. The groups were similar in age at CMR. With higher rTFC score, z scores (Z) of right ventricular (RV) ejection fraction (EF) were lower (p<0.001) while z-RV end diastolic volume (EDV) and z-LV EDV were larger (p=0.002 and 0.013, respectively). LV EF did not differ between rTFC categories. Global circumferential strain (GCS) of the LV was lower in patients in higher rTFC categories (p=0.018). Z-LVEDV correlated with z-RVEDV (r2 = 0.69, p<0.001) and z- LVEF correlated with z-RVEF (r2 = 0.55, p <0.001). Z-LVEF and z-RVEF correlated with LV GCS (r2 = 0.48, p<0.001 and r2 = 0.46, p<0.001, respectively) and torsion (r2 = 0.21, p=0.032 for both). Forty-two patients had a follow-up CMR, after a median interval of 2.6 years (0.4- 8.4). The rate of deterioration of LV or RV EF or EDV did not differ between rTFC categories. A more rapid increase of z-RVEDV was associated with a faster decline in z-RVEF (r2 = -0.383, p=0.004) and z-LVEF (r2 = -0.45, p=0.001). A decline of z-LVEF over time correlated with that of z-RVEF (r2 = 0.60, p<0.001) and z-LVEDV increase correlated with z-RVEDV increase (r2 = 0.84, p<0.001). Conclusion: LV myocardial dysfunction is present in young patients with suspected or confirmed ARVC. Quantification of myocardial mechanics with CMR may be a useful tool to detect early LV involvement in ARVC. Progressive LV dysfunction and enlargement appear to parallel those of the RV.

scholarly journals Characteristics of Patients With Arrhythmogenic Left Ventricular Cardiomyopathy

2020 ◽  
Vol 13 (12) ◽  
Author(s):  
Michela Casella ◽  
Alessio Gasperetti ◽  
Rita Sicuso ◽  
Edoardo Conte ◽  
Valentina Catto ◽  
...  
Keyword(s):  
Late Gadolinium Enhancement ◽  
Right Ventricular ◽  
Genetic Variants ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Ventricular Cardiomyopathy ◽  
Gadolinium Enhancement ◽  
Voltage Mapping ◽  
Fatty Replacement

Background: Arrhythmogenic left ventricular cardiomyopathy (ALVC) is an under-characterized phenotype of arrhythmogenic cardiomyopathy involving the LV ab initio. ALVC was not included in the 2010 International Task Force Criteria for arrhythmogenic right ventricular cardiomyopathy diagnosis and data regarding this phenotype are scarce. Methods: Clinical characteristics were reported from all consecutive patients diagnosed with ALVC, defined as a LV isolated late gadolinium enhancement and fibro-fatty replacement at cardiac magnetic resonance plus genetic variants associated with arrhythmogenic right ventricular cardiomyopathy and of an endomyocardial biopsy showing fibro-fatty replacement complying with the 2010 International Task Force Criteria in the LV. Results: Twenty-five patients ALVC (53 [48–59] years, 60% male) were enrolled. T wave inversion in infero-lateral and left precordial leads were the most common ECG abnormalities. Overall arrhythmic burden at study inclusion was 56%. Cardiac magnetic resonance showed LV late gadolinium enhancement in the LV lateral and posterior basal segments in all patients. In 72% of the patients an invasive evaluation was performed, in which electroanatomical voltage mapping and electroanatomical voltage mapping-guided endomyocardial biopsy showed low endocardial voltages and fibro-fatty replacement in areas of late gadolinium enhancement presence. Genetic variants in desmosomal genes (desmoplakin and desmoglein-2) were identified in 12/25 of the cohort presenting pathogenic/likely pathogenic variants. A definite/borderline 2010 International Task Force Criteria arrhythmogenic right ventricular cardiomyopathy diagnosis was reached only in 11/25 patients. Conclusions: ALVC presents with a preferential involvement of the lateral and postero-lateral basal LV and is associated mostly with variants in desmoplakin and desmoglein-2 genes. An amendment to the current International Task Force Criteria is reasonable to better diagnose patients with ALVC.

P992Incidence, predictors, and success of ventricular tachycardia catheter ablation in arrhythmogenic right ventricular cardiomyopathy (ARVC): A long-term cohort study from the Nordic ARVC registry

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
M K Christiansen ◽  
K Haugaa ◽  
A Svensson ◽  
T Gilljam ◽  
T Madsen ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Catheter Ablation ◽  
Right Ventricular ◽  
Ventricular Arrhythmias ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Young Age ◽  
Clinical Indication ◽  
Ventricular Cardiomyopathy ◽  
Vt Ablation

Abstract Background Catheter ablation may reduce ventricular tachycardia (VT) burden in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. However, little is known about factors predicting need for ablation and various outcomes have been reported. Purpose We sought to investigate predictors and use of VT ablation and to evaluate the post-procedural outcome in ARVC patients. Methods We studied 435 patients from the Nordic ARVC registry including 220 probands with definite ARVC according to the 2010 task force criteria and 215 mutation-carrying relatives identified through cascade screening. Patients were followed until first-time VT ablation, death, heart transplantation, or January 1st 2018. Additionally, patients undergoing VT ablation were further followed from the time of ablation for recurrent ventricular arrhythmias. Results Cumulative use of VT ablation was 4% (95% CI 3%-6%) and 11% (95% CI 8%-15%) after 1 and 10 years. All procedures were performed in probands in whom the cumulative use was 8% (95% CI 5%-12%) and 20% (95% CI 15%-26%). In adjusted analyses restricted to probands, only young age predicted need for ablation. In patients undergoing ablation, risk of recurrent arrhythmias was 59% (95% CI 44%-71%) and 74% (95% CI 59%-84%) 1 and 5 years after the procedure. Despite high recurrence rates, the burden of ventricular arrhythmias was reduced after ablation (p=0.0042). Young age, use of several antiarrhythmic drugs and inducibility to VT immediately after ablation were associated with an unfavorable outcome. Conclusions Twenty percent of ARVC probands developed a clinical indication for VT ablation within 10 years after diagnosis whereas mutation-carrying relatives were without such need. Although the burden of ventricular arrhythmias decreased after ablation, risk of recurrence was substantial.

scholarly journals An International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) using the ClinGen Framework

2021 ◽  
Author(s):  
Cynthia A. James ◽  
Jan D.H. Jongbloed ◽  
Ray E. Hershberger ◽  
Ana Morales ◽  
Daniel P. Judge ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Ventricular Arrhythmias ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Model Systems ◽  
Polymorphic Ventricular Tachycardia ◽  
Inherited Disease ◽  
Ventricular Cardiomyopathy ◽  
Moderate Evidence ◽  
Major Criterion

Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended and a pathogenic variant in an ARVC-associated gene is a major criterion for diagnosis according to the 2010 Task Force Criteria (TFC). As incorrect attribution of a gene to ARVC can contribute to misdiagnosis, we assembled an international multidisciplinary ARVC ClinGen Gene Curation Expert Panel to reappraise all reported ARVC genes. Methods - Following a comprehensive literature search, six two-member teams conducted blinded independent curation of reported ARVC genes using the semi-quantitative ClinGen framework. Results - Of 26 reported ARVC genes, only six ( PKP2 , DSP , DSG2 , DSC2 , JUP , TMEM43 ) had strong evidence and were classified as definitive for ARVC causation. There was moderate evidence for two genes, DES and PLN . The remaining 18 genes had limited or no evidence. RYR2 was refuted as an ARVC gene since clinical data and model systems exhibited a catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype. In ClinVar, only 5 pathogenic / likely pathogenic (P/LP) variants (1.1%) in limited evidence genes had been reported in ARVC cases in contrast to 450 desmosome gene variants (97.4%). Conclusions - Using the ClinGen approach to gene-disease curation, only eight genes, ( PKP2 , DSP , DSG2 , DSC2 , JUP , TMEM43 , PLN , DES ) had definitive or moderate evidence for ARVC and these genes accounted for nearly all P/LP ARVC variants in ClinVar. Therefore, only P/LP variants in these eight genes should yield a major criterion for ARVC diagnosis. P/LP variants identified in other genes in a patient should prompt further phenotyping as variants in many of these genes are associated with other cardiovascular conditions.

Progressive ECG changes over time in arrhythmogenic right ventricular cardiomyopathy precede diagnosis and continue – indices of disease substrate development?

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Svensson ◽  
J Carlson ◽  
V Sherina ◽  
H Bundgaard ◽  
J.H Svendsen ◽  
...  
Keyword(s):  
Right Ventricular ◽  
Time Course ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Tertiary Care ◽  
Ventricular Cardiomyopathy ◽  
T Wave ◽  
Catchment Areas ◽  
Ecg Abnormalities ◽  
Over Time

Abstract Background Depolarization and repolarization abnormalities are common in arrhythmogenic right ventricular cardiomyopathy (ARVC), and are included in the diagnostic 2010 Task Force criteria (TFC2010). However, first ARVC symptoms commonly occur before ECG abnormalities reach the diagnostic thresholds and the time course of ECG abnormalities during initial phase of the disease remains obscure. Regional digital ECG archives allow computerized signal-processing and assessment of ECG phenotype during different disease phases, including the time prior to ascertainment of ARVC diagnosis. Purpose We aimed to assess the natural course of ECG characteristics associated with ARVC, hypothesizing that ARVC is a progressive disease and that ECG parameters progress over time due to disease substrate development. Methods Definite ARVC patients with at least one digital ECG recruited in three tertiary care hospitals in Sweden and Denmark were included (n=102, 66% males, 68% probands, 52% carrying a pathogenic genetic variant, 74% ICD carriers and 25% physically active &gt;4 hours/week). Median age at diagnosis was 41 years (IQR 30–55). 12-lead digital ECGs were extracted from the regional ECG archives, containing all recordings in the hospital catchment areas since 1988. After excluding ECGs with heart rate &lt;40 or &gt;100/min, left bundle branch block or ventricular pacing, and those recorded prior to 14 years of age, the remaining 2067 ECGs were digitally processed and automatically analyzed using the Glasgow algorithm (median 3 [IQR 0–9] ECGs prior to diagnosis and 6 [IQR 2–14] ECGs during follow-up). Overall QRS duration as well as the right precordial lead indices exemplified by the lead V2 (terminal activation delay [TAD], area under the T-wave [T-wave area] and R-prime amplitude) were calculated and graphically represented using generalized additive model (GAM) with cubic splines (Figure 1). A median value for each measurement per patient per year was used for analysis. Blue line indicates smoothed conditional mean with 95% confidence interval (shadow). Time “0” (red line) indicates the time when TFC2010 criteria were fulfilled. Results Marked and consistent changes are seen in all studied depolarization and repolarization parameters over 10 years preceding ARVC diagnosis and continue afterwards. TAD demonstrates gradual increase, while T-wave area demonstrates consistent decrease over time before and after diagnosis indicating amplitude reduction and transition to T-wave inversion. The R-prime curve indicates that the terminal part of QRS complex demonstrate abnormalities first late in the course of the disease (Figure 1). Conclusion Electrocardiographic ARVC phenotype appears to become detectable long before the time of ARVC diagnosis indicating the progressive nature of ARVC and may explain arrhythmic events that may occur during the subclinical phase before ECG criteria are fulfilled. Funding Acknowledgement Type of funding source: None

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