title: Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.
abstract: Pathogenic variants in genes related to channelopathy and cardiomyopathy are the most common cause of sudden unexplained cardiac death. However, few reports have investigated the frequency and/or spectrum of pathogenic variants in these genes in Korean sudden cardiac arrest survivors. This study aimed to investigate the causative genetic variants of cardiac-associated genes in Korean sudden cardiac arrest survivors. We performed exome sequencing followed by filtering and validation of variants in 100 genes related to channelopathy and cardiomyopathy in 19 Korean patients who survived sudden cardiac arrest. Five of the 19 patients (26.3%) had either a pathogenic variant or a likely pathogenic variant in MYBPC3 (n=1), MYH7 (n=1), RYR2 (n=2), or TNNT2 (n=1). All five variants were missense variants that have been reported previously in patients with channelopathies or cardiomyopathies. Furthermore, an additional 12 patients (63.2%) had more than one variant of uncertain significance. In conclusion, pathogenic or likely pathogenic variants in genes related to channelopathy and cardiomyopathy are not uncommon in Korean sudden cardiac arrest survivors and cardiomyopathy-related genes should be included in the molecular diagnosis of sudden cardiac arrest in Korea.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Ju Sun
authors.initials: JS
authors.lastname: Song
authors.affiliation: Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, Republic of Korea.
authors.forename: Jong-Sun
authors.initials: JS
authors.lastname: Kang
authors.affiliation: Green Cross Genome, Yongin, Republic of Korea.
authors.forename: Young-Eun
authors.initials: YE
authors.lastname: Kim
authors.affiliation: Division of Cardiology, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Seung-Jung
authors.initials: SJ
authors.lastname: Park
authors.affiliation: Division of Cardiology, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Kyoung-Min
authors.initials: KM
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Heart Vascular and Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: June
authors.initials: J
authors.lastname: Huh
authors.affiliation: Division of Cardiology, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: June Soo
authors.initials: JS
authors.lastname: Kim
authors.affiliation: Department of Physiology, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Suwon, Republic of Korea.
authors.forename: Hana
authors.initials: H
authors.lastname: Cho
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Chang-Seok
authors.identifier: http://orcid.org/0000-0001-7679-8731
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Division of Cardiology, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Young Keun
authors.initials: YK
authors.lastname: On
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics*; D009202:Cardiomyopathies / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics*; D053447:Channelopathies / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D016757:Death, Sudden, Cardiac / Q000453:epidemiology / Q000473:pathology; D059472:Exome / Q000235:genetics; D005260:Female; D006321:Heart / Q000503:physiopathology; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics*; D056910:Republic of Korea / Q000453:epidemiology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017741:Survivors; D020107:Troponin T / Q000235:genetics*; D000073359:Exome Sequencing; D000099163:Myosin Binding Protein C
chemical_list: D024722:Cardiac Myosins; D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D019837:Ryanodine Receptor Calcium Release Channel; D020107:Troponin T; D000099163:Myosin Binding Protein C; C501641:MYH7 protein, human; C000621072:RyR2 protein, human; C545568:TNNT2 protein, human