Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice
Why the study?
Does desmosomal gene analysis provide diagnostic and prognostic information in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy?
Population
Patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC/D)
Design
Other
Authors
Discussion
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Member takes
Implication
Gene analysis may refine ARVC/D prognosis; leaves open whether testing changes management or outcomes.
Structured PICO
Does desmosomal gene analysis provide diagnostic and prognostic information in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy?
P
Population
Patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC/D)
I
Intervention
Desmosomal gene analysis (genetic testing)
O
Outcome
Diagnostic utility and prognostic impact (disease severity)
Genetic testing in ARVC/D is useful for diagnosis and provides prognostic information based on the specific gene involved or the presence of multiple mutations.
Cite This Study
Fressart et al. (2010) studied this question.