[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-450331-105":59,"doc-detail-450331-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","identification-of-recurrent-myh7-variant-hypertrophic-cardiomyopathy-patients-in-korea-a-case-series","Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea - a case series","","Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac disorder often driven by sarcomeric gene variants, including MYH7. The MYH7 p.Tyr134His variant had been reported only once in a Korean HCM patient and previously classified as a variant of uncertain significance (VUS) without supporting evidence. This study identifies eight unrelated Korean HCM patients carrying the heterozygous MYH7 NM_000257.4:c.400T>C (p.Tyr134His) variant, using exome sequencing across multiple centers to provide additional clinical and genetic support, including population- and in silico–level evidence.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":40,"@type":76,"position":81},"https://docshare.wps.com/document/research-report/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/identification-of-recurrent-myh7-variant-hypertrophic-cardiomyopathy-patients-in-korea-a-case-series/450331/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/identification-of-recurrent-myh7-variant-hypertrophic-cardiomyopathy-patients-in-korea-a-case-series/450331.png","ImageObject",300,407,{"name":92,"@type":93},"Ophelia","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-07","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":29},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What is the main focus of this case series?","Question",{"text":112,"@type":113},"The study examines recurrent HCM patients in Korea who share the MYH7 p.Tyr134His variant (NM_000257.4:c.400T>C), providing additional clinical and genetic evidence.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How were the eight Korean patients identified and characterized?",{"text":117,"@type":113},"Eight unrelated Korean HCM patients were identified as carriers of the heterozygous MYH7 p.Tyr134His variant, and exome sequencing was performed across multiple clinical centers.",{"name":119,"@type":110,"acceptedAnswer":120},"What evidence supports the variant’s pathogenicity, and what remains uncertain?",{"text":121,"@type":113},"The variant was absent from major public and Korean population databases, and multiple in silico tools predicted deleterious effects; however, functional studies have not yet been performed, so the pathogenic mechanism remains unconfirmed and may still be classified as VUS pending further validation.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},450331,1790790248,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":39,"category_name":40,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":29,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":39,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":46},7971461741311,"https://ap-avatar.wpscdn.com/avatar/74000253aff267980c6?x-image-process=image/resize,m_fixed,w_180,h_180&k=1779345379180704826","Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series  \nSeung Woo Ryu1^, Seokhui Jang1^, Jang-Won Son2, Sun Hwa Lee3^, Yisik Kim3^, Soo Yong Lee4, Geu-Ru Hong5, Sang Chol Lee6, Kyu-Yong Ko7, Ji-won Hwang7, Go Hun Seo1^, Won Chan Jeong1, Kyung-Hee Kim8,9  \n13billion, Inc. , Seoul, Republic of Korea; 2Division of Cardiology, Department of Internal Medicine, Yeungnam University Hospital, Daegu, Republic of Korea; 3Division of Cardiology, Department of Internal Medicine, Jeonbuk National University Medical School, Jeonbuk National University Hospital, Jeonju, Republic of Korea; 4Division of Cardiology, Department of Internal Medicine and Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea; 5Division of Cardiology, Department of Internal Medicine, Severance Cardiovascular Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; 6Division of Cardiology, Department of Medicine, Cardiac and Vascular Center, Samsung Medical Center, Seoul, Republic of Korea; 7Division of Cardiology, Department of Internal Medicine, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Republic of Korea; 8Artificial Intelligence and Big Data Center, Sejong Medical Research Center, Bucheon, Republic of Korea; 9Division of Cardiology, Cardiovascular Center, Mediplex Sejong Hospital, Incheon, Republic of Korea  \nContributions: (I) Conception and design: SW Ryu, SH Lee, GH Seo, KH Kim; (II) Administrative support: SW Ryu, SH Lee, GH Seo, KH Kim; (III) Provision of study materials or patients: KH Kim, JW Son, SH Lee, SY Lee, GR Hong, SC Lee, KY Ko, KH Kim; (IV) Collection and assembly of data: SW Ryu, SH Lee, GH Seo; (V) Data analysis and interpretation: SW Ryu, SH Lee, WC Jeong, KH Kim; (VI) Manuscript writing: All authors;  \n(VII) Final approval of manuscript: All authors.  \nCorrespondence to: Kyung-Hee Kim, MD, PhD. Division of Cardiology, Heart Stroke Vascular Center, Incheon Sejong Hospital, 20, Gyeyangmunhwa-ro, Gyeyang-gu, Incheon 21080, Republic of Korea; Artificial Intelligence and Big Data Center, Sejong Medical Research Center, Bucheon, Republic of Korea; Division of Cardiology, Cardiovascular Center, Mediplex Sejong Hospital, Incheon, Republic of Korea. Email: [learnbyliving9@gmail.com](learnbyliving9@gmail.com).  \nBackground: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac disorder often caused by variants in sarcomeric genes such as MYH7. The p.Tyr134His variant in MYH7 has previously been reported only once in a Korean HCM patient and was classified as a variant of uncertain significance (VUS), with no further supporting evidence available. This study adds to the literature by providing additional clinical and genetic evidence for this rare variant, suggesting a possible Korean-specific founder  \neffect.  \nCase Description: We identified eight unrelated Korean patients with HCM, all carrying the  \nheterozygous MYH7 NM_ 000257.4:c.400T>C (p.Tyr134His) variant. These patients underwent exome sequencing across multiple clinical centers in South Korea. Clinical presentations varied from asymptomatic cases to those with arrhythmia, syncope, or structural changes such as asymmetric septal hypertrophy. No other pathogenic variants in known cardiomyopathy genes were identified in all eight patients. The variant was absent in major public and Korean population databases but present only in Korean HCM patients from our in-house cohort. In silico tools, including REVEL, AlphaMissense, and 3Cnet, consistently predicted  \ndeleterious effects.  \nConclusions: Our findings provide clinical and population-level evidence supporting the pathogenicity of the p.Tyr134His variant in MYH7, potentially representing a rare Korean-specific founder mutation.  \nHowever, as functional studies have not yet been performed, the pathogenic ","cbCaihb6TwWxZVQr","https://ap.wps.com/l/cbCaihb6TwWxZVQr","pdf",906317,"English","# Background\n# Case Description\n## Patient cohort and variant identification\n## Clinical presentations\n## Variant absence/presence in databases and predictions\n# Conclusions\n# Keywords and publication information","[{\"question\":\"What is the main focus of this case series?\",\"answer\":\"The study examines recurrent HCM patients in Korea who share the MYH7 p.Tyr134His variant (NM_000257.4:c.400T\\u003eC), providing additional clinical and genetic evidence.\"},{\"question\":\"How were the eight Korean patients identified and characterized?\",\"answer\":\"Eight unrelated Korean HCM patients were identified as carriers of the heterozygous MYH7 p.Tyr134His variant, and exome sequencing was performed across multiple clinical centers.\"},{\"question\":\"What evidence supports the variant’s pathogenicity, and what remains uncertain?\",\"answer\":\"The variant was absent from major public and Korean population databases, and multiple in silico tools predicted deleterious effects; however, functional studies have not yet been performed, so the pathogenic mechanism remains unconfirmed and may still be classified as VUS pending further validation.\"}]","Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea - a case series | PDF",1790732910]