Short-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: Leaky RyR2 channels under non-stress conditions

• Published in: International journal of cardiology Vol. 180; pp. 228 - 236
• Main Authors: Cheung, Jim W, Meli, Albano C, Xie, Wenjun, Mittal, Suneet, Reiken, Steven, Wronska, Anetta, Xu, Linna, Steinberg, Jonathan S, Markowitz, Steven M, Iwai, Sei, Lacampagne, Alain, Lerman, Bruce B, Marks, Andrew R
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ireland Ltd 01.02.2015
• Subjects: Adult; Cardiovascular; DNA - genetics; DNA Mutational Analysis; Female; Genetics; Heterozygote; Humans; Mutation; Pedigree; Phenotype; Polymorphic ventricular tachycardia; Rest - physiology; Ryanodine receptor; Ryanodine Receptor Calcium Release Channel - genetics; Ryanodine Receptor Calcium Release Channel - metabolism; Syncope; Tachycardia, Ventricular - genetics; Tachycardia, Ventricular - metabolism; Tachycardia, Ventricular - physiopathology; Genetics; Syncope; Polymorphic ventricular tachycardia; Ryanodine receptor

Abstract Background Ryanodine receptor (RyR2) mutations have largely been associated with catecholaminergic polymorphic ventricular tachycardia (PMVT). The role of RyR2 mutations in the pathogenesis of arrhythmias and syncope at rest is unknown. We sought to characterize the clinical and functional...