A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6

We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias ma...

Full description

Saved in:
Bibliographic Details
Published in:Case reports in medicine 2019, Vol.2019 (2019), p.1-4
Main Authors: de Groot, Natasja M. S., Ragab, Ahmed A. Y., van der Does, Lisette J. M. E., Heida, Annejet
Format: Article
Language:English
Subjects:
Cardiac arrhythmia
Case Report
Case reports
Electrocardiography
Fainting
Family medical history
Fibrillation
Genes
Genetic aspects
Genetic disorders
Genetic screening
Heart
Heredity
Long QT syndrome
Mutation
Sinuses
Substance abuse treatment
Tachycardia
Ventricle
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. This digenic inheritance is extremely rare.
ISSN:1687-9627
1687-9635
DOI:10.1155/2019/1384139