Session Details
[O18]Oral Session 18 Cardiovascular Disorders
Sat. Oct 12, 2024 3:25 PM - 4:15 PM JST
Sat. Oct 12, 2024 6:25 AM - 7:15 AM UTC
Sat. Oct 12, 2024 6:25 AM - 7:15 AM UTC
Room 6(Castle, 1F)
Chairs:Takayuki Morisaki(Institute of Medical Science, The University of Tokyo), Toshihiro Tanaka(Department of Human Genetics and Disease Diversity, Institute of Science Tokyo)
[O18-1]Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome
○Hiroyuki Akagawa1,2,3, Akikazu Nakamura1,4, Shunsuke Nomura5, Shoko Hara6, Thiparpa Thamamongood6, Kay Sin Tan7, Constantin Roder8, Takakazu Kawamata4 (1.Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan, 2.Department of Neurosurgery, Adachi Medical Center, Tokyo Women's Medical University, Tokyo, Japan, 3.Medical AI Center, Tokyo Women's Medical University, Tokyo, Japan, 4.Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan, 5.Krembil Brain Institute, University of Toronto, Canada, 6.Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan, 7.Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia, 8.Department of Neurosurgery, Eberhard Karls University Tubingen, Tubingen, Germany)
[O18-2]A case of hydrops fetalis with aortic valve stenosis with a gene variant of NOTCH1 through whole-exome sequencing
○Yuki Kakinuma1, Katsusuke Ozawa1, Fuyuki Hasegawa2, Saori Baba1, Rinko Ibi1, Akiko Konishi1, Kazuhiro Kajiwara1, Jin Muromoto1, Rika Sugibayashi1, Ayano Miura1, Susumu Urata3, Ki-Sung Kim3, Kosaki Rika4, Kenichiro Hata5, Seiji Wada1 (1.Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Center for Genetic Medicine, National Center for Child Health and Development, Tokyo, Japan, 3.Division of Cardiology, National Center for Child Health and Development, Tokyo, Japan, 4.Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 5.Department of Human Molecular Genetics, Gunma University Graduate School of Medicine, Japan)
[O18-3]Loeys-Dietz syndrome and related disorders in Japan: 20 years from the first report
○Takayuki Morisaki1,3, Hiroko Morisaki1,2,3 (1.Institute of Medical Science, The University of Tokyo, Tokyo, Japan, 2.Sakakibara Heart Institute, 3.National Cerebral and Cardiovascular Center)
[O18-4]Genetic etiology of truncus arteriosus and identification of a prevalent variant in TMEM260, in the Japanese population
○Hisao Yaoita1, Eiichiro Kawai2, Jun Takayama3,4,5,6, Shinya Iwasawa1, Naoya Saijo1, Masayuki Abiko7, Kouta Suzuki7, Masato Kimura2, Akira Ozawa2, Gen Tamiya3,4,5,6, Shigeo Kure1,6,8, Atsuo Kikuchi1,6 (1.Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan, 2.Department of Pediatric Cardiology, Miyagi Childrens Hospital, Sendai, Japan, 3.Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan, 4.Tohoku Medical Megabank organization, Tohoku University, Sendai, Japan, 5.Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan, 6.Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, Japan, 7.Department of Pediatrics, Yamagata University Graduate School of Medicine, Yamagata, Japan, 8.Miyagi Childrens Hospital, Sendai, Japan)