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Arrhythmogenic right ventricular cardiomyopathy

An update on pathophysiology, genetics, diagnosis, and risk stratification

Arrythmogene rechtsventrikuläre Kardiomyopathie

Aktualisierung zu Pathophysiologie, Genetik, Diagnostik und Risikostratifizierung

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Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy accounting for life-threatening ventricular tachyarrhythmias and sudden death in young individuals and athletes. Over the past years, mutations in desmosomal genes have been identified as disease-causative. However, genetic heterogeneity and variable phenotypic expression alongside with diverse disease progression still render the evaluation of its prognostic implication difficult. ARVC was initially entered into the canon of cardiomyopathies of the World Health Organization in 1995, and international efforts have resulted in the 2010 modified diagnostic criteria for ARVC. Despite all additional insights into pathophysiology, clinical management, and modern risk stratification, under-/misdiagnosing of ARVC remains a problem and hampers reliable statements on the incidence, prevalence, and natural course of the disease.

This review provides a comprehensive overview of the current literature on the pathogenesis, diagnosis, treatment, and prognosis of ARVC and sheds some light on potential new developments in these areas.

Zusammenfassung

Die arrhythmogene rechtsventrikuläre Kardiomyopathie ist eine vererbbare Herzmuskelerkrankung, die für das Auftreten lebensbedrohlicher ventrikulärer Tachyarrhythmien und insbesondere für den plötzlichen Herztod bei jungen Menschen und Athleten verantwortlich zeichnet. In den letzten Jahren wurden Mutationen in überwiegend desmosomalen Genen als ursächlich identifiziert und somit auch diese Kardiomyopathieform als genetisch klassifiziert. Typisch sind eine genetische Heterogenität, variable klinische Expression und insbesondere Erkrankungsprogression, was eine valide prognostische Einstufung erschwert. Seit der Einordnung als Kardiomyopathie durch die Weltgesundheitsorganisation 1995 wurden die Diagnosekriterien mehrfach überarbeitet und zuletzt 2010 unter Einbeziehung genauerer Bildgebungskriterien veröffentlicht. Dennoch bleibt die korrekte Diagnose der insgesamt seltenen Erkrankung komplex, was mitunter Fehl- oder Nichtdiagnostizieren beinhaltet und damit Aussagen zur erkrankungsspezifischen Inzidenz, Prävalenz und zum „natürlichen“ Erkrankungsverlauf einschränkt.

Dieser Beitrag gibt eine Übersicht über die aktuelle Literatur zur Pathogenese, Diagnose, Therapie und Prognose der ARVC und einen Ausblick auf zukünftige Entwicklungen in den genannten Bereichen.

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On behalf of all authors, the corresponding author states that there are no conflicts of interest.

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Authors and Affiliations

  1. Division of Cardiology, Department of Cardiovascular Medicine, University Hospital Münster, Albert-Schweitzer-Campus 1 (Gebäude A1), 48149, Münster, Germany

    Matthias Paul M.D., Larissa Fabritz M.D., Johannes Waltenberger M.D., FESC & Paulus Kirchhof M.D., FESC, FHRS

  2. Department of Cardiology, Niels-Stensen-Kliniken, Marienhospital Osnabrück, Heart Center Osnabrück-Bad Rothenfelde, Osnabrück, Germany

    Thomas Wichter M.D., FESC

  3. Centre for Cardiovascular Sciences, School for Clinical and Experimental Medicine, University of Birmingham and SWBH NHS Trust, Birmingham, UK

    Larissa Fabritz M.D. & Paulus Kirchhof M.D., FESC, FHRS

  4. Institute for Genetics of Heart Diseases, Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany

    Eric Schulze-Bahr M.D.

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  1. Matthias Paul M.D.
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  2. Thomas Wichter M.D., FESC
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  3. Larissa Fabritz M.D.
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  4. Johannes Waltenberger M.D., FESC
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  5. Eric Schulze-Bahr M.D.
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  6. Paulus Kirchhof M.D., FESC, FHRS
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Correspondence to Matthias Paul M.D..

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Paul, M., Wichter, T., Fabritz, L. et al. Arrhythmogenic right ventricular cardiomyopathy. Herzschr Elektrophys 23, 186–195 (2012). https://doi.org/10.1007/s00399-012-0233-7

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