Article
Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.
Heart rhythm - 1 Jul 2015
Wangüemert Fernando, Bosch Calero Cristina, Pérez Carmelo, Campuzano Oscar, Beltran-Alvarez Pedro, Scornik Fabiana S, Iglesias Anna, Berne Paola, Allegue Catarina, Ruiz Hernandez Pablo M, Brugada Josep, Pérez Guillermo J, Brugada Ramon
Abstract excerpt
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth. OBJECTIVES: We sought to identify the genetic cause of CPVT in this family, to preventively treat and clinically characterize the mutation-positive individuals, and to...
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