scholarly journals Arrhythmogenic right ventricular cardiomyopathy: From pathophysiology to diagnosis and advances in management

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Rachel Bastiaenen ◽  
Marc W. Deyell ◽  
Andrew D. Krahn
Keyword(s):  
Risk Stratification ◽  
Right Ventricular ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Incomplete Penetrance ◽  
Ventricular Cardiomyopathy ◽  
Inherited Cardiomyopathy ◽  
Collaborative Efforts ◽  
Exercise Restriction ◽  
Underlying Pathophysiology

Our understanding of arrhythmogenic right ventricular cardiomyopathy (ARVC) has advanced considerably over the past 30- 40 years. This is an inherited cardiomyopathy with complicated genetic inheritance and variable penetrance. Desmosomal dysfunction underlies most cases, and appreciating this pathophysiology has contributed to patient management, particularly with respect to exercise restriction to reduce disease progression. The diagnosis is made according to a series of Task Force Criteria, and subsequent management is guided by expert consensus in the absence of comparative data. ARVC is associated with sudden cardiac death (SCD), particularly in young athletic individuals who unknowingly harbour the condition. Risk stratification is important to guide implantable cardioverter- defibrillator use and reduce SCD. Residual gaps in our understanding, particularly surrounding incomplete penetrance, the underlying pathophysiology and risk stratification, are being targeted by collaborative efforts, large registries, prospective studies and translational research.

Exercise restriction is protective for genotype-positive family members of arrhythmogenic right ventricular cardiomyopathy patients

EP Europace ◽  
2020 ◽  
Vol 22 (8) ◽  
pp. 1270-1278
Author(s):  
Weijia Wang ◽  
Crystal Tichnell ◽  
Brittney A Murray ◽  
Julia Agafonova ◽  
Julia Cadrin-Tourigny ◽  
...  
Keyword(s):  
Ventricular Arrhythmia ◽  
Right Ventricular ◽  
Diagnostic Criteria ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Family Members ◽  
Heart Association ◽  
High Dose ◽  
Ventricular Cardiomyopathy ◽  
Exercise Restriction

Abstract Aims In arrhythmogenic right ventricular cardiomyopathy (ARVC) patients, exercise worsens disease course, so exercise restriction is recommended. However, recommendations for genotype-positive ARVC family members is incompletely resolved. We aimed to provide evidence for exercise recommendations for genotype-positive ARVC family members. Methods and results Arrhythmogenic right ventricular cardiomyopathy family members inheriting a pathogenic desmosomal variant were interviewed about exercise history from age 10. Exercise was characterized by duration, intensity, and dose (duration*intensity). Associations between exercise and (i) diagnosis by 2010 Task Force Criteria and (ii) development of sustained ventricular arrhythmias were examined. The study included 101 family members (age: 40.5 ± 19.3 years, male: 41%, Plakophilin-2 variant: 81%). Forty-four individuals (44%) met diagnostic criteria and 16 (16%) experienced sustained ventricular arrhythmia. Individuals who met diagnostic criteria had significantly higher average exercise duration and dose, but not peak intensity than those who did not. Only one individual who exercised below the American Heart Association recommended minimum (650 metabolic equivalent of task-hours/year) met diagnostic criteria or experienced sustained ventricular arrhythmia as opposed to 50% of individuals who exceeded it (adjusted odds ratio = 0.03, 95% confidence interval 0.003–0.26). The difference in exercise exposure between affected and unaffected individuals was more striking in females than in males. Females who had done high-dose exercise in adolescence had the worst survival free from diagnosis (P < 0.01). Conclusions In phenotype-negative ARVC family members with a pathogenic desmosomal variant, athletic activities should be limited, particularly exercise dose. Exercise may play a greater role in promoting disease in female family members.

scholarly journals Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity

2021 ◽  
Vol 9 ◽  
Author(s):  
Anneline S. J. M. te Riele ◽  
Cynthia A. James ◽  
Hugh Calkins ◽  
Adalena Tsatsopoulou
Keyword(s):  
Right Ventricular ◽  
Task Force ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Autosomal Recessive Disorder ◽  
Incomplete Penetrance ◽  
Sources Of Information ◽  
Ventricular Cardiomyopathy ◽  
Multiple Sources ◽  
Young Subjects ◽  
The Right

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty infiltration of predominantly the right ventricular (RV) myocardium. Affected patients typically present as young adults with hemodynamically stable ventricular tachycardia, although pediatric cases are increasingly recognized. These young subjects often have a more severe phenotype with a high risk of sudden cardiac death (SCD) and progression toward heart failure. Diagnosis of ARVC is made by combining multiple sources of information as prescribed by the consensus-based Task Force Criteria. The description of Naxos disease, a fully penetrant autosomal recessive disorder that is associated with ARVC and a cutaneous phenotype of palmoplantar keratoderma and wooly hair facilitated the identification of the genetic cause of ARVC. At present, approximately 60% of patients are found to carry a pathogenic variant in one of five genes associated with the cardiac desmosome. The incomplete penetrance and variable expressivity of these variants however implies an important role for environmental factors, of which participation in endurance exercise is a strong risk factor. Since there currently is no definite cure for ARVC, disease management is directed toward symptom reduction, delay of disease progression, and prevention of SCD. This clinically focused review describes the spectrum of ARVC among children and adolescents, the genetic architecture underlying this disease, the cardio-cutaneous syndromes that led to its identification, and current diagnostic and therapeutic strategies in pediatric ARVC subjects.

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.

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