Session Details
[P2-06]Cardiovascular Disorders 2
Fri. Nov 20, 2026 3:30 PM - 4:30 PM JST
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Exhibition Hall 1-A+2 (6) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)
[P2-06-01]Clinical Stability Following a Switch to Migalastat in Fabry Disease with an Amenable GLA Variant (L300P)
Toru Awaya1, Masao Moroi2,3 (1. Department of Cardiovascular Medicine, kyorin University Hospital, 2. Department of Cardiovascular Medicine, Toho university Ohashi Medical Center, 3. Department of Internal Medicine, Misato Central General Hospital, Saitama, Japan)
[P2-06-02]Identification of a Novel NKX2-5 Variant in a Family with Atrial Septal Defect and Atrioventricular Conduction Disease
Ryuta Takase1, Kaori Fukui1, Kenji Suda3, Yoriko Watanabe1,2 (1. Department of Pediatrics and Child Health Kurume University School of Medicine, 2. Research Institute of Medical Mass Spectrometry Kurume University School of Medicine, 3. St.Mary's Hospital)
[P2-06-03]Exploration of a Rare-Variant Burden Signal Associated with Apical Aneurysm in Apical Hypertrophic Cardiomyopathy
Koki Takamura1, Kenta Sugiura1, Toru Kubo1, Mari Tashiro2, Masato Takeuchi1, Toshihiro Moriki1, Yuri Ochi1, Yuichi Baba1, Tatsuya Noguchi1, Takayoshi Hirota1, Hiroaki Kitaoka1 (1. Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University, Nankoku, Japan, 2. Department of Clinical Genetics, Kochi Medical School Hospital)
[P2-06-04]Genomic Sequencing Using FFPE-Derived DNA: Feasibility and Limitations in Variant Validation
Madoka Tanimoto, Keiko Sonoda, Seiko Ohno (National Cerebral and Cardiovascular Center, Suita, Osaka)
[P2-06-05]Functional Validation of a MYH11 Splice-Site Variant by Minigene Assay in a Family with HTAAD
Aki Ishikawa1,2,3, Tasuku Mariya2,4, Aiko Seto2, Yuko Takasu2, Kaho Kato2, Ayana Miura2, Kentaro Suda1,2, Shin Kikuchi5, Nobuhiro Wada5, Yuki Ohsaki5 (1. Department of Clinical Genomics, Division of Genomic and Preventive Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan, 2. Department of Clinical Genetics, Sapporo Medical University Hospital, Sapporo, Japan, 3. Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan, 4. Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, Sapporo, Japan, 5. Department of Cell and Tissue Morphology, Department of Anatomy, Sapporo Medical University School of Medicine, Sapporo, Japan)