계명대학교 의학도서관 Repository

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands

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Author(s)
Joo Hee JeongSuk-Kyu OhYun Gi KimYun Young ChoiHyoung Seok LeeJaemin ShimYae Min ParkJun-Hyung KimYong-Seog OhNam-Ho KimHui-Nam PakYoung Keun OnHyung Wook ParkGyo-Seung HwangDae-Kyeong KimYoung-Ah ParkHyoung-Seob ParkYongkeun ChoSeil OhJong-Il ChoiYoung-Hoon Kim
Keimyung Author(s)
Park, Hyoung Seob
Department
Dept. of Internal Medicine (내과학)
Journal Title
Korean Circ J
Issued Date
2023
Volume
53
Issue
10
Keyword
CardiomyopathiesChannelopathiesGenetic testingHigh-throughput nucleotide sequencing
Abstract
Background and objectives:
Inherited arrhythmia (IA) is a more common cause of sudden cardiac death in Asian population, but little is known about the genetic background of Asian IA probands. We aimed to investigate the clinical characteristics and analyze the genetic underpinnings of IA in a Korean cohort.

Methods:
This study was conducted in a multicenter cohort of the Korean IA Registry from 2014 to 2017. Genetic testing was performed using a next-generation sequencing panel including 174 causative genes of cardiovascular disease.

Results:
Among the 265 IA probands, idiopathic ventricular fibrillation (IVF) and Brugada Syndrome (BrS) was the most prevalent diseases (96 and 95 cases respectively), followed by long QT syndrome (LQTS, n=54). Two-hundred-sixteen probands underwent genetic testing, and 69 probands (31.9%) were detected with genetic variant, with yield of pathogenic or likely pathogenic variant as 6.4%. Left ventricular ejection fraction was significantly lower in genotype positive probands (54.7±11.3 vs. 59.3±9.2%, p=0.005). IVF probands showed highest yield of positive genotype (54.0%), followed by LQTS (23.8%), and BrS (19.5%).

Conclusions:
There were significant differences in clinical characteristics and genetic yields among BrS, LQTS, and IVF. Genetic testing did not provide better yield for BrS and LQTS. On the other hand, in IVF, genetic testing using multiple gene panel might enable the molecular diagnosis of concealed genotype, which may alter future clinical diagnosis and management strategies.
Keimyung Author(s)(Kor)
박형섭
Publisher
School of Medicine (의과대학)
Type
Article
ISSN
1738-5555
Source
https://e-kcj.org/DOIx.php?id=10.4070/kcj.2023.0083
DOI
10.4070/kcj.2023.0083
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/45271
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
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