PO-655-05 IS ANKYRIN-2 A POTENTIAL GENETIC MODIFIER IN PEDIATRIC CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA?

Dania Kallas,Johan Martijn Bos,Puck Peltenburg,Sonia Franciosi,Arezoo Mohajeri,Matthew Cheung,Laura Brett,Nicole York,Juan Sanchez-Arias,Leigh Anne Swayne,Laura Arbour,David Tester,Glen F. Tibbits,Anna Lehman,Arthur A.M. Wilde,Michael John Ackerman,Shubhayan Sanatani

Heart rhythm（2022）

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摘要

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited arrhythmia disorder with variable expressivity and penetrance. Most cases are attributed to variants in RYR2. The factors that affect disease expression and severity have not been fully elucidated. Variant burden and genetic modifiers are possible influencers of disease presentation and risk.

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