Korean Circulation Journal

The Korean Society of Cardiology (대한심장학회)
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Clinical and Genetic Features of Korean Inherited Arrhythmia Probands

  • Joo Hee Jeong (Division of Cardiology, Korea University College of Medicine and Korea University Medical Center) ;
  • Suk-Kyu Oh (Division of Cardiology, Korea University College of Medicine and Korea University Medical Center) ;
  • Yun Gi Kim (Division of Cardiology, Korea University College of Medicine and Korea University Medical Center) ;
  • Yun Young Choi (Division of Cardiology, Korea University College of Medicine and Korea University Medical Center) ;
  • Hyoung Seok Lee (Division of Cardiology, Korea University College of Medicine and Korea University Medical Center) ;
  • Jaemin Shim (Division of Cardiology, Korea University College of Medicine and Korea University Medical Center) ;
  • Yae Min Park (Department of Internal Medicine, Gachon University Gil Medical Center, Gachon University College of Medicine) ;
  • Jun-Hyung Kim (Department of Internal Medicine, Chungnam National University Hospital, Chungnam National University College of Medicine) ;
  • Yong-Seog Oh (Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Nam-Ho Kim (Department of Internal Medicine, Wonkwang University Hospital, Wonkwang University School of Medicine) ;
  • Hui-Nam Pak (Department of Internal Medicine, Severance Cardiovascular Hospital, Yonsei University College of Medicine) ;
  • Young Keun On (Department of Internal Medicine, Heart Vascular and Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Hyung Wook Park (Department of Cardiology, Chonnam National University Hospital, Chonnam National University School of Medicine) ;
  • Gyo-Seung Hwang (Department of Cardiology, Ajou University School of Medicine) ;
  • Dae-Kyeong Kim (Department of Internal Medicine, Busan Paik Hospital, Inje University College of Medicine) ;
  • Young-Ah Park (Department of Internal Medicine, Busan Paik Hospital, Inje University College of Medicine) ;
  • Hyoung-Seob Park (Department of Internal Medicine, Keimyung University Dongsan Medical Center, Keimyung University College of Medicine) ;
  • Yongkeun Cho (Department of Internal Medicine, Kyungpook National University Hospital) ;
  • Seil Oh (Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Jong-Il Choi (Division of Cardiology, Korea University College of Medicine and Korea University Medical Center) ;
  • Young-Hoon Kim (Division of Cardiology, Korea University College of Medicine and Korea University Medical Center)
  • Received : 2023.03.17
  • Accepted : 2023.06.13
  • Published : 2023.10.01
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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.

Keywords

Acknowledgement

We thank all investigators of the Korean Inherited Arrhythmia Registry Network for their contribution to the pivotal basis for inherited arrhythmia research in Korea. We also thank Green Cross Genome (Y.E. Kim, E.H. Cho, J.M. Choi) for their support in genetic analysis.

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