Arrhythmogenic cardiomyopathy: Pathogenesis, pro-arrhythmic remodelling, and novel approaches for risk stratification and therapy

Stephanie M. van der Voorn, Anneline S.J.M. te Riele, Cristina Basso, Hugh Calkins, Carol Ann Remme, Toon A.B. van Veen

Research output: Contribution to journalReview articlepeer-review

Abstract

Arrhythmogenic cardiomyopathy (ACM) is a life-threatening cardiac disease caused by mutations in genes predominantly encoding for desmosomal proteins that lead to alterations in the molecular composition of the intercalated disc. ACM is characterized by progressive replacement of cardiomyocytes by fibrofatty tissue, ventricular dilatation, cardiac dysfunction, and heart failure but mostly dominated by the occurrence of life-threatening arrhythmias and sudden cardiac death (SCD). As SCD appears mostly in apparently healthy young individuals, there is a demand for better risk stratification of suspected ACM mutation carriers. Moreover, disease severity, progression, and outcome are highly variable in patients with ACM. In this review, we discuss the aetiology of ACM with a focus on pro-arrhythmic disease mechanisms in the early concealed phase of the disease. We summarize potential new biomarkers which might be useful for risk stratification and prediction of disease course. Finally, we explore novel therapeutic strategies to prevent arrhythmias and SCD in the early stages of ACM.

Original languageEnglish (US)
Pages (from-to)1571-1584
Number of pages14
JournalCardiovascular research
Volume116
Issue number9
DOIs
StatePublished - Jul 15 2020

Keywords

  • Cardiomyopathy • Arrhythmia

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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