Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria

Marcus, Frank I.; McKenna, William J.; Sherrill, Duane L.; Basso, Cristina; Bauce, Barbara; Bluemke, David A.; Calkins, Hugh; Corrado, Domenico; Cox, Moniek G. P. J.; Daubert, James P.; Fontaine, G.; Gear, Kathleen; Hauer, Richard N.W.; Nava, Andrea; Picard, Michael H.; Protonotarios, Nikos; Saffitz, Jeffrey E.; Sanborn, Danita M. Yoerger; Steinberg, Jonathan S.; Tandri, Harikrishna; Thiene, Gaetano; Towbin, Jeffrey A.; Tsatsopoulou, Adalena; Wichter, Thomas; Zaręba, Wojciech

doi:10.1093/eurheartj/ehq025

Cited by 1,576 publications

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“…All individuals met diagnostic criteria as described in Table 2 10. Compared to previously published ARVC patients carrying desmosomal mutations, individuals with sarcomere variants tended to be slightly older (36.8 years of age vs. 33.2 years of age), though not significant 2.…”

Section: Resultsmentioning

confidence: 90%

“…Continued genetic overlap between the cardiomyopathies has been described, and it follows that structural heart disease with arrhythmias that primarily affects the RV may produce a phenotype mimicking ARVC 4, 10. Indeed, these individuals with sarcomere variants meet TFC for ARVC, and do not have significant differences in structural disease than desmosomal variant carriers.…”

Section: Discussionmentioning

confidence: 99%

“…All individuals were phenotyped via medical records for diagnostic criteria according to the 2010 TFC 10. A definite ARVC diagnosis was characterized by the presence of ≥2 major criteria, 1 major and 2 minor criteria, or 4 minor criteria.…”

Section: Methodsmentioning

confidence: 99%

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Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

Murray

Hoorntje

Riele

et al. 2018

Cardiovasc electrophysiol

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AimsArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden death. Currently 60% of patients meeting Task Force Criteria (TFC) have an identifiable mutation in one of the desmosomal genes. As much overlap is described between other cardiomyopathies and ARVC, we examined the prevalence of rare, possibly pathogenic sarcomere variants in the ARVC population.MethodsOne hundred and thirty‐seven (137) individuals meeting 2010 TFC for a diagnosis of ARVC, negative for pathogenic desmosomal variants, TMEM43, SCN5A, and PLN were screened for variants in the sarcomere genes (ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2, and TPM1) through either clinical or research genetic testing.ResultsSix probands (6/137, 4%) were found to carry rare variants in the sarcomere genes. These variants have low prevalence in controls, are predicted damaging by Polyphen‐2, and some of the variants are known pathogenic hypertrophic cardiomyopathy mutations. Sarcomere variant carriers had a phenotype that did not differ significantly from desmosomal mutation carriers. As most of these probands were the only affected individuals in their families, however, segregation data are noninformative.ConclusionThese data show variants in the sarcomere can be identified in individuals with an ARVC phenotype. Although rare and predicted damaging, proven functional and segregational evidence that these variants can cause ARVC is lacking. Therefore, caution is warranted in interpreting these variants when identified on large next‐generation sequencing panels for cardiomyopathies.

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Section: Resultsmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

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Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

Murray

Hoorntje

Riele

et al. 2018

Cardiovasc electrophysiol

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“…The patient population studied consisted of 312 patients who met 2010 TFC4 for definite ARVD/C and received an ICD for prevention of SCD. Details of fulfillment of TFC are shown in Table S1.…”

Section: Resultsmentioning

confidence: 99%

Implantable Cardioverter‐Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications

Orgeron

James

Riele

et al. 2017

JAHA

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BackgroundArrhythmogenic right ventricular dysplasia/cardiomyopathy is characterized by ventricular arrhythmias and sudden cardiac death. Once the diagnosis is established, risk stratification to determine whether implantable cardioverter‐defibrillator (ICD) placement is warranted is critical.Methods and ResultsThe cohort included 312 patients (163 men, age at presentation 33.6±13.9 years) with definite arrhythmogenic right ventricular dysplasia/cardiomyopathy who received an ICD. Over 8.8±7.33 years, 186 participants (60%) had appropriate ICD therapy and 58 (19%) had an intervention for ventricular fibrillation/flutter. Ventricular tachycardia at presentation (hazard ratio [HR]: 1.86; 95% confidence interval [CI], 1.38–2.49; P<0.001), inducibility on electrophysiology study (HR: 3.14; 95% CI, 1.95–5.05; P<0.001), male sex (HR: 1.62; 95% CI, 1.20–2.19; P=0.001), inverted T waves in ≥3 precordial leads (HR: 1.66; 95% CI, 1.09–2.52; P=0.018), and premature ventricular contraction count ≥1000/24 hours (HR: 2.30; 95% CI, 1.32–4.00; P=0.003) were predictors of any appropriate ICD therapy. Inducibility at electrophysiology study (HR: 2.28; 95% CI, 1.10–4.70; P=0.025) remained as the only predictor after multivariable analysis. The predictors for ventricular fibrillation/flutter were premature ventricular contraction ≥1000/24 hours (HR: 4.39; 95% CI, 1.32–14.61; P=0.016), syncope (HR: 1.85; 95% CI, 1.10–3.11; P=0.021), aged ≤30 years at presentation (HR: 1.76; 95% CI, 1.04–3.00; P<0.036), and male sex (HR: 1.73; 95% CI, 1.01–2.97; P=0.046). Younger age at presentation (HR: 3.14; 95% CI, 1.32–7.48; P=0.010) and high premature ventricular contraction burden (HR: 4.43; 95% CI, 1.35–14.57; P<0.014) remained as independent predictors of ventricular fibrillation/flutter. Complications occurred in 66 participants (21%), and 64 (21%) had inappropriate ICD interventions. Overall mortality was low at 2%, and 4% underwent heart transplantation.ConclusionThese findings represent an important step in identifying predictors of ICD therapy for potentially fatal ventricular fibrillation/flutter and should be considered when developing a risk stratification model for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

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“…This technique has also been proposed as one of the criteria for the diagnosis of ARVC 23. Recent studies have also demonstrated the utility of this technique to determine the prognosis of patients with suspected ARVC or patients with ARVC, undergoing a successful catheter ablation of ventricular tachyarrhythmias 24, 25…”

Section: Classification and Evaluation Of Nicmmentioning

confidence: 99%

Ventricular arrhythmias in nonischemic cardiomyopathy

Chung

Lin

et al. 2018

Journal of Arrhythmia

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Nonischemic cardiomyopathies (NICMs) are composed of variable disease entities, including primary and secondary cardiomyopathies. Determining the etiology of NICM provides pivotal roles of not only the understanding of the individual pathogenesis, but also the clinical management, such as risk stratification, pharmacological treatment, and intervention therapies. Despite the diverse causes of NICM, these cases mostly require clinical attention owing to progressive myocardial injury, resulting in ventricular dysfunction and heart failure. The interaction between the diseased ventricular substrates and systemic/neurophysiological factors contributes to the cornerstones responsible for ventricular arrhythmogenesis and sudden cardiac death (SCD). Prevention of SCD and diminishing ventricular tachyarrhythmias are the important mainstays for the management of NICM patients. Given the understanding of the abnormal ventricular substrates and advancement of navigation systems, radiofrequency catheter ablation (RFCA) has become an adjunctive or alternative strategy for NICM patients who experience drug‐refractory ventricular tachycardias (VTs). Successful ablation can frequently be achieved at the expense of an epicardial intervention. A recent study has proven the survival benefits for NICM patients who are free from recurrent VTs after a successful RFCA, regardless of the New York Heart Association (NYHA) functional class status or left ventricular ejection fraction. Additionally, recent evidence has highlighted the better delineation of a diseased myocardium through the incorporation of cardiovascular magnetic resonance imaging (CMRI) and 3D mapping systems, which can facilitate the identification of critical ventricular arrhythmogenic substrates in NICM patients.

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Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria

Abstract: The present modifications of the Task Force Criteria represent a working framework to improve the diagnosis and management of this condition. Clinical Trial Registration clinicaltrials.gov Identifier: NCT00024505.

Cited by 1,576 publications

References 56 publications

Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

Implantable Cardioverter‐Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications

Ventricular arrhythmias in nonischemic cardiomyopathy

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