A Single Na + Channel Mutation Causing Both Long-QT and Brugada Syndromes
Why the study?
Does the 1795insD mutation in the SCN5A gene cause both long-QT and Brugada syndrome phenotypes in a single kindred?
Population
79 adults from an 8-generation kindred characterized by a high incidence of nocturnal sudden death…
Comparison
Presence of the 1795insD mutation in the SCN5A… vs Noncarriers of the mutation (wild-type SCN5A)
Design
Cohort
Authors
Discussion
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Member takes
Implication
May support SCN5A evaluation in mixed-phenotype families; extends evidence that one genotype can produce overlapping long-QT and Brugada features.
Structured PICO
Does the 1795insD mutation in the SCN5A gene cause both long-QT and Brugada syndrome phenotypes in a single kindred?
P
Population
79 adults from an 8-generation kindred characterized by a high incidence of nocturnal sudden death, QT-interval prolongation, and Brugada ECG (43 carriers, 36 noncarriers), as well as Xenopus oocytes for functional expression studies.
I
Intervention
Presence of the 1795insD mutation in the SCN5A gene
C
Comparator
Noncarriers of the mutation (wild-type SCN5A)
O
Outcome
ECG parameters (PR, QRS, QT intervals, ST segment elevation) and Na+ channel functional properties (steady-state inactivation and activation curves)surrogate
The 1795insD mutation in the SCN5A gene causes both long-QT and Brugada syndrome phenotypes, demonstrating that these allelic disorders can share a common genotype.
Cite This Study
Bezzina et al. (1999) studied this question.