Article
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.
Circulation - 20 Nov 2007
Crotti Lia, Spazzolini Carla, Schwartz Peter J, Shimizu Wataru, Denjoy Isabelle, Schulze-Bahr Eric, Zaklyazminskaya Elena V, Swan Heikki, Ackerman Michael J, Moss Arthur J, Wilde Arthur A M, Horie Minoru, Brink Paul A, Insolia Roberto, De Ferrari Gaetano M, Crimi Gabriele
Abstract excerpt
BACKGROUND: The impressive clinical heterogeneity of the long-QT syndrome (LQTS) remains partially unexplained. In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity. We tested whether the arrhythmic risk was caused directly by A341V or by its presence in the specific ethnic setting of the SA families. METHODS...
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