The 70th Annual Meeting of the Japan Society of Human Genetics
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Session Details

Oral Session

[O19]Oral Session 19　Cardiovascular Disorders 1

Fri. Dec 19, 2025 3:10 PM - 4:00 PM JST
Fri. Dec 19, 2025 6:10 AM - 7:00 AM UTC
Room 6 (313+314, 3F, PACIFICO Yokohama)
Chairs：Yasunari Sakai（Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University）／Masayuki Yoshida（Institute of Science Tokyo）
［English Session］

[O19-1]Clinical Characteristics of RYR2 Exon 3 Deletion Carriers Causing Catecholaminergic Polymorphic Ventricular Tachycardia

Seiko Ohno1, Koichi Kato2, Minoru Horie2 (1.National Cerebral and Cardiovascular Center, Suita, Japan, 2.Shiga University of Medical Science)

[O19-2]The effects of FBN1 variants on pregnancy-related aortic dissection in women with Marfan syndrome

Tae Konishi1, Chizuko Aoki-Kamiya1, Yasuki Ishihara2, Yohei Miyashita2,3, Yoshihiro Asano2,3, Takeshi Yagyu4, Hiroko Morisaki5, Mai Temukai1, Masami Sawada1, Aiko Kakigano1, Naoko Iwanaga1, Takeshi Kanagawa1, Kazufumi Ida3, Reiko Neki1,3, Jun Yoshimatsu1 (1.Department of Obstetrics and Gynecology, National Cerebral and Cardiovascular Center, Osaka, Japan, 2.Department of Biobank, National Cerebral and Cardiovascular Center, Osaka, Japan, 3.Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan, 4.Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan, 5.Department of Clinical Genetics, Sakakibara Heart Institute, Tokyo, Japan)

[O19-3]Phenotypic Variability and Concordance with Andersen-Tawil Syndrome Diagnostic Criteria in KCNJ2 Variant Carriers

Koichi Kato1, Takafumi Iguchi1, Takanori Aizawa2, Megumi Fukuyama1, Keiko Sonoda3, Takeshi Aiba4, Seiko Ohno3, Yoshihisa Nakagawa1, Minoru Horie1 (1.Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan, 2.Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan, 3.Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan, 4.Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan)

[O19-4]Discovery of novel genetic mechanisms underlying chronic thromboembolic pulmonary hypertension

Mizuki Momoi1, Takahiro Hiraide1, Yoshinori Katsumata1,2, Atsushi Anzai1, Kenjiro Kosaki3, Masaharu Kataoka1,4, Masaki Ieda1 (1.Department of Cardiology, Keio University School of Medicine, Tokyo, Japan, 2.Institute for Integrated Sports Medicine, Keio University School of Medicine, 3.Center for Medical Genetics, Keio University School of Medicine, 4.The Second Department of Internal Medicine, University of Occupational and Environmental Health)

[O19-5]Sibling fetal cases of MYH7-related biventricular noncompaction caused by parental somatic mosaicism

Koki Nagai1, Yasuhiro Kawai1, Ruriko Tachioka1, Tomoko Nishikawa1, Takuya Naruto2, Chihiro Kishaba3, Takeshi Ikegawa4, Mio Tanaka5, Yukiko Kuroda1 (1.Division of Medical Genetics, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 2.Clinical Research Institute, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 3.Division of Obstetrics and Gynecology, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 4.Department of Cardiology, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 5.Department of Pathology, Kanagawa Childrenʼs Medical Center, Yokohama, Japan)
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