Cited 1 times in
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 박희남 | - |
dc.date.accessioned | 2024-01-03T01:17:33Z | - |
dc.date.available | 2024-01-03T01:17:33Z | - |
dc.date.issued | 2023-10 | - |
dc.identifier.issn | 1738-5520 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/197519 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English, Korean | - |
dc.publisher | Korean Society of Circulation | - |
dc.relation.isPartOf | KOREAN CIRCULATION JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Clinical and Genetic Features of Korean Inherited Arrhythmia Probands | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.googleauthor | Joo Hee Jeong | - |
dc.contributor.googleauthor | Suk-Kyu Oh | - |
dc.contributor.googleauthor | Yun Gi Kim | - |
dc.contributor.googleauthor | Yun Young Choi | - |
dc.contributor.googleauthor | Hyoung Seok Lee | - |
dc.contributor.googleauthor | Jaemin Shim | - |
dc.contributor.googleauthor | Yae Min Park | - |
dc.contributor.googleauthor | Jun-Hyung Kim | - |
dc.contributor.googleauthor | Yong-Seog Oh | - |
dc.contributor.googleauthor | Nam-Ho Kim | - |
dc.contributor.googleauthor | Hui-Nam Pak | - |
dc.contributor.googleauthor | Young Keun On | - |
dc.contributor.googleauthor | Hyung Wook Park | - |
dc.contributor.googleauthor | Gyo-Seung Hwang | - |
dc.contributor.googleauthor | Dae-Kyeong Kim | - |
dc.contributor.googleauthor | Young-Ah Park | - |
dc.contributor.googleauthor | Hyoung-Seob Park | - |
dc.contributor.googleauthor | Yongkeun Cho | - |
dc.contributor.googleauthor | Seil Oh | - |
dc.contributor.googleauthor | Jong-Il Choi | - |
dc.contributor.googleauthor | Young-Hoon Kim | - |
dc.identifier.doi | 10.4070/KCJ.2023.0083 | - |
dc.contributor.localId | A01776 | - |
dc.relation.journalcode | J01952 | - |
dc.identifier.eissn | 1738-5555 | - |
dc.identifier.pmid | 37653714 | - |
dc.subject.keyword | Cardiomyopathies | - |
dc.subject.keyword | Channelopathies | - |
dc.subject.keyword | Genetic testing | - |
dc.subject.keyword | High-throughput nucleotide sequencing | - |
dc.contributor.alternativeName | Pak, Hui Nam | - |
dc.contributor.affiliatedAuthor | 박희남 | - |
dc.citation.volume | 53 | - |
dc.citation.number | 10 | - |
dc.citation.startPage | 693 | - |
dc.citation.endPage | 707 | - |
dc.identifier.bibliographicCitation | KOREAN CIRCULATION JOURNAL, Vol.53(10) : 693-707, 2023-10 | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.