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Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome by Julian O.M. Ormerod; Elizabeth Ormondroyd; Yanhui Li; John Taylor; Jinhong Wei; Wenting Guo; Ruiwu Wang; Caroline N.S. Sarton; Karen McGuire; Helene M.P. Dreau; Jenny C. Taylor; Matthew R. Ginks; Kim Rajappan; S.R. Wayne Chen; Hugh Watkins is a Medicine article available to read on EtoBox.
What is Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome about?
## Background: A novel familial arrhythmia syndrome, cardiac ryanodine receptor (RyR2) calcium release deficiency syndrome (CRDS), has recently been described. We evaluated a large and well characterized family to assess provocation testing, risk factor stratification and response to therapy in CRDS. ## Methods: We present a family with multiple unheralded sudden cardiac deaths and aborted cardiac arrests, primarily in children and young adults, with no clear phenotype on standard clinical testing. ## Results: Genetic analysis, including whole genome sequencing, firmly established that a missense mutation in RYR2 , Ala4142Thr, was the underlying cause of disease in the family. Functional study of the variant in a cell model showed RyR2 loss-of-function, indicating that the family was affected by CRDS. EPS (Electrophysiological Study) was undertaken in 9 subjects known to carry the mutation, including a survivor of aborted sudden cardiac death, and the effects of flecainide alone and in combination with metoprolol were tested. There was a clear gradation in inducibility of nonsustained and sustained ventricular arrhythmia between subjects at EPS, with the survivor of aborted sudden
Who reads Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome?
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- Author
- Julian O.M. Ormerod; Elizabeth Ormondroyd; Yanhui Li; John Taylor; Jinhong Wei; Wenting Guo; Ruiwu Wang; Caroline N.S. Sarton; Karen McGuire; Helene M.P. Dreau; Jenny C. Taylor; Matthew R. Ginks; Kim Rajappan; S.R. Wayne Chen; Hugh Watkins
- Publisher
- Ovid Technologies (Wolters Kluwer Health)
- Published
- 2021
- Language
- EN
- Field
- Medicine (Health Sciences)