Arrhythmogenic cardiomyopathy - New insights into disease mechanisms and drug discovery

Research output: Contribution to journalReview article

Details

Original languageEnglish (US)
Pages (from-to)3-7
Number of pages5
JournalProgress in Pediatric cardiology
Volume37
Issue number1-2
StatusPublished - Dec 1 2014
Peer-reviewedYes

Abstract

Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disorder characterized by the early appearance of ventricular arrhythmias often out of proportion to the degree of ventricular remodeling and dysfunction. ACM typically presents in adolescence or early adulthood. It accounts for 10% of sudden cardiac deaths in individuals under the age of 18. years. Although there has been significant progress in recognizing the genetic determinants of ACM, how specific gene mutations cause the disease remains poorly understood. Here, we review insights gained from studying the human disease as well as in vivo and in vitro experimental models. These observations have advanced our understanding of the molecular mechanisms underlying the pathogenesis of ACM and may lead to development of new mechanism-based therapies.

    Research areas

  • Arrhythmogenic cardiomyopathy, Plakoglobin, SB216763, Sudden cardiac death