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Advances in arrhythmogenic right ventricular cardiomyopathy

  • Recent advances in genetics, presented by P Van Tintelen (Groningen, NL) - Slides
  • Pathophysioloy and contribution of histology, presented by M Delmar (New York, US) - Slides
  • New insights into the electrophysiology of arrhythmogenic right ventricular cardiomyopathy, presented by P Lambiase (London, GB) - Slides
  • Long-term outcomes and indications for defibrillator, presented by D Corrado (Padova, IT) - Slides

Recent advances in genetics

Dr Van Tintelen (Netherlands) reviewed the recent molecular genetic data available in ARVC (Arrhythmogenic right ventricular cardiomyopathy), a monogenic disorder mostly related to mutations in desmosomal genes. He underlined the genetic heterogeneity as well as the variable cardiac expression and the reduced penetration of the disease. Although genetic testing is already translated into the clinical practice, he acknowledges the difficulties of interpreting some mutations that should be considered rather as genetic variants of unknown significance. He also reported unpublished data from his group about mutations in phospholamban gene identified in ARVC patients, expanding the complexity of the genetic background.

Pathophysiology and contribution of histology

Dr Delmar (USA) emphasized how important is the insight provided by desmosomal mutations into the pathophysiology of ARVC. He nicely explained the major component of the disease that appears to be related to structural modifications of the mechanical junctions (desmosomes), electrical coupling abnormalities (gap junction) and also possibly to abnormal sodium channel current, with new data he provided today.

Electrophysiology of ARVC

Dr Lambiase (UK) provided interesting data from a mouse model of ARVC (heterozygous desmoplakine gene knock out) with in vivo electrophysiology that demonstrated ventricular tachycardia in this model but not in the wild type mouse. Conduction abnormalities (coupling interval) could be also demonstrated. In human, refined voltage mapping in patients with ARVC also demonstrated abnormalities in both conduction and repolarization kinetics.

Long term outcome and indications for defibrillator

Dr Corrado (Italy) reviewed data about the natural history of ARVC that represents a major cause of sudden death in the young and in athletes. Progressive loss of right or left myocardium occurs usually late in life whereas ventricular electrical instability leading to sudden death can occur at any time during the course of the disease. He underlined the major role for ICD as an efficient treatment to prevent sudden death. The predictors of sudden death or appropriated defibrillator therapy were also recently re-evaluated through the DARVIN II study and emphasised the role of syncope as a very strong predictor after multivariate analyses, in addition to aborted sudden death and haemodynamically unstable VT that were previously reported.




Advances in arrhythmogenic right ventricular cardiomyopathy

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.