A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

Abstract Background The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sud...

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Bibliographic Details
Main Authors: Hyun Sok Yoo, Nancy Medina, María Alejandra von Wulffen, Natalia Ciampi, Analia Paolucci, Hugo Ariel Garro, Mario Bruno Principato, Rafael Salvador Acunzo, Justo Carbajales
Format: Article
Language:English
Published: BMC 2021-01-01
Series:International Journal of Arrhythmia
Subjects:
Long QT syndrome
KCNH2
Frameshift mutation
Sudden death
Online Access:https://doi.org/10.1186/s42444-020-00029-1

Internet

https://doi.org/10.1186/s42444-020-00029-1

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