A rare case report of catecholaminergic polymorphic ventricular tachycardia with an uncommon CALM2 mutation.

ABSTRACT:

Background

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary arrhythmia disorder characterized by syncope or sudden cardiac death and typically caused by a gain-of-function of the Ryanodine Receptor Type 2 (RyR2) mutation. Calmodulin is a calcium-binding protein responsible for many intracellular signalling pathways and disruptions in function or regulation may lead to potentially fatal arrhythmias. We present a case of a young patient with CPVT found to have an unusual, potentially causative, Calmodulin 2-a protein coding gene (CALM2) mutation.

Case summary

A 21-year-old female with autism was brought to the ED following cardiac arrest. Bidirectional ventricular tachycardia was captured on electrocardiogram. Propranolol was initiated, a

SUBMITTER: Ding KR 

PROVIDER: S-EPMC11299022 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature