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