Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.

doi:10.1001/jamacardio.2021.4458

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Article

Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.

JAMA cardiology - 1 Jan 2022

Roston Thomas M, Wei Jinhong, Guo Wenting, Li Yanhui, Zhong Xiaowei, Wang Ruiwu, Estillore John Paul, Peltenburg Puck J, Noguer Ferran Rosés I, Till Jan, Eckhardt Lee L, Orland Kate M, Hamilton Robert, LaPage Martin J, Krahn Andrew D, Tadros Rafik, Vinocur Jeffrey M, Kallas Dania, Franciosi Sonia, Roberts Jason D, Wilde Arthur A M, Jensen Henrik K, Sanatani Shubhayan, Chen S R Wayne

Abstract excerpt

Importance: Calcium-release deficiency syndrome (CRDS), which is caused by loss-of-function variants in cardiac ryanodine receptor 2 (RyR2), is an emerging cause of ventricular fibrillation. However, the lack of complex polymorphic/bidirectional ventricular tachyarrhythmias during exercise stress testing (EST) may distinguish it from catecholaminergic polymorphic ventricular tachycardia (CPVT). Recently, in the...

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Identifiers

PMID: 34730774
DOI: 10.1001/jamacardio.2021.4458
PMCID: PMC8567190

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