Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
Key result
Desmosomal mutations were identified in 33% of Danish patients with arrhythmogenic right ventricular cardiomyopathy, with a substantial proportion carrying multiple mutations.
Population
65 unrelated Danish patients with arrhythmogenic right ventricular cardiomyopathy, including 55 fulfilling…
Design
Cross-sectional
Authors
Discussion
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Member takes
Implication
May support comprehensive desmosomal screening in ARVC; leaves open prognostic impact of multiple mutations pending prospective data.
Study Design
Type
Observational (n=65)
Structured PICO
P
Population
65 unrelated Danish patients with arrhythmogenic right ventricular cardiomyopathy (55 fulfilling criteria, 10 borderline) screened for desmosomal mutations.
E
Exposure
Genetic screening for mutations in all known desmosome genes (DSC2, DSG2, DSP, JUP, PKP2) and TGFb3, along with multiplex ligation-dependent probe amplification for genomic rearrangements.
O
Outcome
Presence and spectrum of desmosomal mutations and large genomic rearrangements.surrogate
A wide spectrum of desmosomal mutations, including frequent double-mutation carriers, is present in Danish ARVC patients, supporting comprehensive genetic screening beyond the first identified mutation.
Cite This Study
Christensen et al. (2010) conducted an observational in Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=65). Desmosomal mutations was evaluated on Presence of desmosomal mutations. Desmosomal mutations were identified in 33% of Danish patients with arrhythmogenic right ventricular cardiomyopathy, with a substantial proportion carrying multiple mutations.