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Article

Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.

Gene - 15 Feb 2024

Askarinejad Amir, Esmaeili Shiva, Dalili Mohamad, Biglari Alireza, Kohansal Erfan, Maleki Majid, Kalayinia Samira

Abstract excerpt

BACKGROUND: Although structural heart disease is frequently present among patients who experience sudden cardiac death (SCD), inherited arrhythmia syndromes can also play an important role in the occurrence of SCD. CPVT2, which is the second-most prevalent form of CPVT, arises from an abnormality in the CASQ2 gene. OBJECTIVE: We represent a novel CASQ2 variant that causes CPVT2 and conduct a comprehensive review...

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PMID: 37995796
DOI: 10.1016/j.gene.2023.148012

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