Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy
Why the study?
Are mutations in the desmoglein-2 (DSG2) gene associated with arrhythmogenic right ventricular cardiomyopathy?
Population
80 unrelated probands with arrhythmogenic right ventricular cardiomyopathy fulfilling task force criteria
Design
Cross-sectional
Authors
Discussion
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Member takes
Implication
DSG2 variants may inform ARVC genetic panels; supports desmosomal role yet leaves causality open in level 4 data.
Structured PICO
Are mutations in the desmoglein-2 (DSG2) gene associated with arrhythmogenic right ventricular cardiomyopathy?
P
Population
80 unrelated probands with arrhythmogenic right ventricular cardiomyopathy (ARVC) fulfilling task force criteria
I
Intervention
Genetic screening for desmoglein-2 (DSG2) mutations
O
Outcome
Presence of DSG2 gene mutationssurrogate
This study identifies DSG2 as a causative gene for ARVC, confirming that many forms of the disease are driven by desmosomal complex alterations.
Cite This Study
Pilichou et al. (2006) studied this question.