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Clinical and Genetic Features of Korean Inherited Arrhythmia Probands

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dc.contributor.authorJeong, JH-
dc.contributor.authorOh, SK-
dc.contributor.authorKim, YG-
dc.contributor.authorChoi, YY-
dc.contributor.authorLee, HS-
dc.contributor.authorShim, J-
dc.contributor.authorPark, YM-
dc.contributor.authorKim, JH-
dc.contributor.authorOh, YS-
dc.contributor.authorKim, NH-
dc.contributor.authorPak, HN-
dc.contributor.authorOn, YK-
dc.contributor.authorPark, HW-
dc.contributor.authorHwang, GS-
dc.contributor.authorKim, DK-
dc.contributor.authorPark, YA-
dc.contributor.authorPark, HS-
dc.contributor.authorCho, Y-
dc.contributor.authorOh, S-
dc.contributor.authorChoi, JI-
dc.contributor.authorKim, YH-
dc.date.accessioned2023-10-24T07:46:21Z-
dc.date.available2023-10-24T07:46:21Z-
dc.date.issued2023-
dc.identifier.issn1738-5520-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/26438-
dc.description.abstractBackground 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.language.isoen-
dc.titleClinical and Genetic Features of Korean Inherited Arrhythmia Probands-
dc.typeArticle-
dc.identifier.pmid37653714-
dc.identifier.urlhttps://e-kcj.org/DOIx.php?id=10.4070/kcj.2023.0083-
dc.subject.keywordCardiomyopathies-
dc.subject.keywordChannelopathies-
dc.subject.keywordGenetic testing-
dc.subject.keywordHigh-throughput nucleotide sequencing-
dc.contributor.affiliatedAuthorHwang, GS-
dc.type.localJournal Papers-
dc.identifier.doi10.4070/KCJ.2023.0083-
dc.citation.titleKorean circulation journal-
dc.citation.volume53-
dc.citation.number10-
dc.citation.date2023-
dc.citation.startPage693-
dc.citation.endPage707-
dc.identifier.bibliographicCitationKorean circulation journal, 53(10). : 693-707, 2023-
dc.identifier.eissn1738-5555-
dc.relation.journalidJ017385520-
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Journal Papers > School of Medicine / Graduate School of Medicine > Cardiology
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