Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect
Population
35 family members from a large family, 17 of whom were positive for the SCN5A-E1784K mutation. Also included…
Design
Cohort
Follow-up
8±3 months for ICD patients; up to 6.7 years for one patient
Authors
Discussion
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Member takes
Implication
May inform SCN5A-E1784K screening in overlap BrS/LQTS/CCD families; leaves open penetrance estimates in larger, unselected cohorts.
Structured PICO
P
Population
35 family members from a large family, 17 of whom were positive for the SCN5A-E1784K mutation. Also included TSA201 cells for in vitro functional characterization.
O
Outcome
Genotype-phenotype relationship (clinical presentation of Brugada syndrome, long QT syndrome, cardiac conduction disease, and sinus node dysfunction) and functional sodium current changes (peak and late sodium currents)surrogate
The SCN5A-E1784K mutation exhibits complete penetrance for an overlapping phenotype of Brugada syndrome, long QT syndrome, and cardiac conduction disease, explaining the high arrhythmic event rate in carriers.
Cite This Study
Veltmann et al. (2016) studied this question.