Diagnosing arrhythmogenic right ventricular cardiomyopathy by 2010 Task Force Criteria: clinical performance and simplified practical implementation

Bosman, Laurens P; Cadrin‐Tourigny, Julia; Bourfiss, Mimount; Ghasabeh, Mounes Aliyari; Sharma, Apurva; Tichnell, Crystal; Roudijk, Rob W; Murray, Brittney; Tandri, Harikrishna; Khairy, Paul; Kamel, Ihab R.; Zimmerman, Stefan L.; Reitsma, Johannes B.; Asselbergs, Folkert W.; Tintelen, J. Peter van; Heijden, Jeroen F. van der; Hauer, Richard N.W.; Calkins, Hugh; James, Cynthia A.; Riele, Anneline S.J.M. te

doi:10.1093/europace/euaa039

Cited by 52 publications

(36 citation statements)

References 23 publications

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“…Quantitative TFC criteria were derived from a comparison of 108 ARVC probands to healthy controls, in which cut-offs for major criteria were chosen to achieve 95% specificity. Cut-offs with high specificity invariably result in lower sensitivity, which ranged from 17–58% in a recent validation study ( 16 ). In contrast, minor criteria have higher sensitivity (up to 82%) but consequently lower specificity (as low as 67%) ( 16 ).…”

Section: Diagnosismentioning

confidence: 99%

“…Cut-offs with high specificity invariably result in lower sensitivity, which ranged from 17–58% in a recent validation study ( 16 ). In contrast, minor criteria have higher sensitivity (up to 82%) but consequently lower specificity (as low as 67%) ( 16 ). Overall, 2 major, 1 major and 2 minor, or 4 minor criteria are required for diagnosis.…”

Section: Diagnosismentioning

confidence: 99%

“…ARVC is a progressive disease ( 93 ), and therefore screening for disease development should be performed at multiple time points using the most useful combination of tests. Almost uniformly, studies have shown that 12-lead ECG and Holter monitoring are among the most sensitive tests for ARVC evaluation, with abnormal test results approaching 90% in affected patients ( 16 ). However, almost all these prior studies were cross-sectional in design, and did not consider progression that may have occurred on these tests.…”

Section: Cascade Screeningmentioning

confidence: 99%

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

et al. 2021

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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.

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Section: Diagnosismentioning

confidence: 99%

Section: Diagnosismentioning

confidence: 99%

Section: Cascade Screeningmentioning

confidence: 99%

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

et al. 2021

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“…Expert interpretation of gene–disease associations and variant pathogenicity is supported by the Clinical Genome (ClinGen) Resource Cardiovascular Working Group ( https://clinicalgenome.org ; [ 41 , 45 , 49 , 60 ]). To determine the likelihood of pathogenicity of a genetic variant and its relation to disease, the following classification has been proposed: pathogenic (class 5: >95%), likely pathogenic (class 4: >90%), variant of uncertain significance = VUS (class 3: 10–90%), likely benign (class 2: <10%), and benign (class 1: <5%) [ 8 , 20 , 49 , 60 , 62 ].…”

Section: Genetic Counseling and Testingmentioning

confidence: 99%

Pregnancy in arrhythmogenic cardiomyopathy

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Milberg²,

Wichter³

et al. 2021

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Arrhythmogenic cardiomyopathy (AC) is a rare heart muscle disease with a genetic background and autosomal dominant mode of transmission. The clinical manifestation is characterized by ventricular arrhythmias (VA), heart failure (HF) and the risk of sudden cardiac death (SCD). Pregnancy in young female patients with AC represents a challenging condition for the life and family planning of young affected women. In addition to genetic mechanisms that influence the complex pathophysiology of AC, experimental and clinical data have confirmed the pathogenetic role of strenuous exercise and competitive sports in the early onset and rapid progression of AC symptoms and complications. Pregnancy and exercise share a number of physiological aspects of adaptation. In AC, both result in ventricular volume overload and myocardial stretch. Therefore, pregnancy has been postulated as a potential risk factor for HF, VA, SCD, and pregnancy-related obstetric complications in patients with AC. However, the available evidence on pregnancy in AC does not confirm this hypothesis. In most women with AC, pregnancies are well tolerated, uneventful, and follow a benign course. Pregnancy-related symptoms (VA, syncope, HF) and mortality, as well as obstetric complications, are uncommon in AC patients and range in the order of background populations and cohorts with AC and no pregnancy. The number of completed pregnancies is not associated with an acceleration of AC pathology or an increased risk of VA or HF during pregnancy and follow-up. Accordingly, there is no medical indication to advise against pregnancy in patients with AC. Preconditions include stability of rhythm and hemodynamics at baseline, as well as clinical follow-ups and the availability of multidisciplinary expert consultation during pregnancy and postpartum. Genetic counseling is recommended prior to pregnancy for all couples and their families affected by AC.

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“…We thank Dr Müssigbrodt 1 for his interest in our study and the complex question of arrhythmogenic right centricular cardiomyopathy (ARVC) diagnosis. 2 To continue the discussion in this reply, we elaborate on the elements that he found surprising and rectify inaccuracies in his statements.…”

mentioning

confidence: 96%