Why the study?
Does clinical disease expression and prognosis differ between dominant PKP2 and recessive JUP mutations in ARVC families?
Population
187 individuals belonging to 16 arrhythmogenic right ventricular cardiomyopathy families from Greece and…
Comparison
Dominant PKP2 mutations vs Recessive JUP mutations
Design
Cohort
Follow-up
up to 21 years (median 8.5 years)
Authors
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Supports unified non-invasive screening for PKP2/JUP carriers in ARVC families; leaves open differential prognosis in larger cohorts.
Does clinical disease expression and prognosis differ between dominant PKP2 and recessive JUP mutations in ARVC families?
Mutations in PKP2 and JUP express a similar cardiac phenotype in ARVC, and non-invasive family screening can effectively identify mutation carriers using specific ECG and imaging markers.
Loizos Antoniades (2006) studied this question.
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