An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

Chatterjee, Diptendu; Fatah, Meena; Akdiş, Deniz; Spears, Danna; Koopmann, Tamara T.; Mittal, Kirti; Rafiq, Muhammad; Cattanach, B.M.; Zhao, Qili; Healey, Jeff S.; Ackerman, Michael J.; Bos, J. Martijn; Sun, Yu; Maynes, Jason T.; Brunckhorst, Corinna; Medeiros-Domingo, Argelia; Duru, Fırat; Saguner, Ardan M.; Hamilton, Robert M.

doi:10.1093/eurheartj/ehy567

Cited by 116 publications

(150 citation statements)

References 43 publications

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“…38 Finally, there is recent evidence of cardiac autoimmunity in a study of AC reporting anti-desmoglein antibodies associated with the extent of the disease. 40 Importantly, this was a consistent finding among desmosomal and non-desmosomal forms of the disease. 40…”

Section: Myocardial Inflammationsupporting

confidence: 68%

Arrhythmogenic Cardiomyopathy: A Disease or Merely a Phenotype?

Protonotarios

Elliott

2020

Eur Cardiol

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Arrhythmogenic cardiomyopathy (AC) is a clinical entity that has evolved conceptually over the past 30 years. Advances in cardiac imaging and the introduction of genetics into everyday practice have revealed that AC comprises multiple phenotypes that are dependent on genetic or acquired factors. In this study, the authors summarise the approach to the identification of the AC phenotype and its underlying causes. They believe that AC represents a paradigm for personalised medicine in cardiology and that better stratification of the disease will enhance the development of mechanism-based treatments.

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Section: Myocardial Inflammationsupporting

confidence: 68%

Arrhythmogenic Cardiomyopathy: A Disease or Merely a Phenotype?

Protonotarios

Elliott

2020

Eur Cardiol

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“…The research should focus on better understanding of the genetic background, improvement of clinical and imaging characterization of the phenotype, with particular reference to left-sided variants and discovery of diagnostic biomarkers. 77…”

Section: Discussionmentioning

confidence: 99%

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Anastastakis

Asimaki

Basso

et al. 2019

European Heart Journal

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127

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“…Other genetic causes of AC are less well studied, but data suggest that for mutations in TMEM43 , RBM20 , the founder R14del in phospholamban and FLNC , sudden death risk relates to the severity of structural and functional abnormalities, although anecdotal reports and familial evaluation suggest that sudden death can be the initial presenting feature . Several novel disease biomarkers that might aid risk prediction are under study, such as testosterone, BIN‐1, soluble ST2 and anti‐desmoglein‐2 autoantibodies . However, these have not been compared with conventional risk factors.…”

Section: How Can Sudden Cardiac Death Prediction Be Improved In Arrhymentioning

confidence: 99%

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

Elliott

Anastasakis

Asimaki

et al. 2019

European J of Heart Fail

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It is 35 years since the first description of arrhythmogenic right ventricular cardiomyopathy (ARVC) and more than 20 years since the first reports establishing desmosomal gene mutations as a major cause of the disease. Early advances in the understanding of the clinical, pathological and genetic architecture of ARVC resulted in consensus diagnostic criteria, which proved to be sensitive but not entirely specific for the disease. In more recent years, clinical and genetic data from families and the recognition of a much broader spectrum of structural disorders affecting both ventricles and associated with a propensity to ventricular arrhythmia have raised many questions about pathogenesis, disease terminology and clinical management. In this paper, we present the conclusions of an expert round table that aimed to summarise the current state of the art in arrhythmogenic cardiomyopathies and to define future research priorities.

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An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

Cited by 116 publications

References 43 publications

Arrhythmogenic Cardiomyopathy: A Disease or Merely a Phenotype?

Arrhythmogenic Cardiomyopathy: A Disease or Merely a Phenotype?

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

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