Article
RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.
Circulation. Arrhythmia and electrophysiology - 1 Sept 2025
Chang Alexander, Beqaj Halil, Sittenfeld Leah, Miotto Marco C, Dridi Haikel, Willson Gloria, Martinez Jorge Carolyn, Altosaar Li Jaan, Reiken Steven, Liu Yang, Dai Zonglin, Tchagou Carl, Elsayed Sana, Marx Steven O, Marks Andrew R
Abstract excerpt
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia, with pathogenic variants in the RYR2 gene responsible for 60% of clinically well-defined CPVT cases. Diagnosis of CPVT often occurs after a major cardiac event, posing a severe threat to the patient's life. A data set of patients with CPVT would improve the diagnosis and treatment of patients with CPVT....
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