RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data
This study compiled a comprehensive data set of CPVT-associated <i>RYR2</i> variants and their clinical phenotypes. The age of onset in certain domains (core solenoid) and subdomains (core solenoid[exEF-hand], channel pore) tended to be lower compared with other regions. Variability in patient phenotypes, such as age of onset and treatment efficacy, along with structural information on variants, suggests that patients may benefit from personalized interventions based on their variant.
Authors
- Marco Miotto (ORCID: https://orcid.org/0000-0001-8851-4863)
- Leah Sittenfeld (ORCID: https://orcid.org/0000-0001-8349-0663)
- Zonglin Dai (ORCID: https://orcid.org/0000-0002-4005-1297)
- Carolyn Jorge Martinez (ORCID: https://orcid.org/0000-0002-2930-1937)
- Jaan Altosaar Li (ORCID: https://orcid.org/0000-0003-1294-4159)
- Halil Beqaj (ORCID: https://orcid.org/0000-0002-7980-7549)
- Andrew R. Marks (ORCID: https://orcid.org/0000-0002-8057-1502)
- Steve Reiken (ORCID: https://orcid.org/0000-0002-5807-3574)
- Steven O. Marx (ORCID: https://orcid.org/0000-0002-0577-6030)
- Gloria Willson (ORCID: https://orcid.org/0000-0001-8664-1236)
- Haikel Dridi (ORCID: https://orcid.org/0000-0001-9533-7367)
- Sameh Rabie Elsayed
- Carl Tchagou
- Yang Liu (ORCID: https://orcid.org/0000-0002-8343-4431)
- Alexander Chang (ORCID: https://orcid.org/0009-0002-4273-2595)
Institutions
- Columbia University Irving Medical Center (US)
- New York Public Library (US)
- Columbia University (US)
Publication Details
- Journal
- Circulation Arrhythmia and Electrophysiology
- Published
- 2025-08-26
- DOI
- https://doi.org/10.1161/circep.124.013757
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 0.00