EP and the Unusual Cardiomyopathies-ARVC: A Disease With Many Faces (Presenter: Mario Delmar, MD, PhD, FHRS)

ARVC: A Disease With Many Faces (Presenter: Mario Delmar, MD, PhD, FHRS)

Video Transcription

Video Summary

In this talk, Mario Delmo discusses the various aspects of arrhythmogenic right ventricular cardiomyopathy (ARVC). He explains that ARVC is traditionally seen as a monogenic disease caused by mutations in specific genes related to the desmosome. However, Delmo argues that this monogenic model is not consistent with what is known about the disease and suggests that ARVC is likely a complex genetic condition involving multiple genes with different effects that combine to produce the disease phenotype. Additionally, Delmo highlights the concept of pleiotropy, where one gene can have multiple effects or phenotypes. He discusses the pleiotropic nature of the PKP-2 gene and how it can manifest in different ways, leading to arrhythmias, right ventricular cardiomyopathy, or both. Delmo emphasizes the importance of understanding these different phenotypes and the endophenotypes of genes in order to better diagnose and treat inheritable arrhythmia diseases.

Meta Tag

Lecture ID 3455

Location Room 203

Presenter Mario Delmar, MD, PhD, FHRS

Role Invited Speaker

Session Date and Time May 09, 2019 1:30 PM - 3:00 PM

Session Number S-031

Keywords

arrhythmogenic right ventricular cardiomyopathy

monogenic disease

mutations

desmosome

complex genetic condition