Session Details
[P2-06]Poster Session 2-06 Cardiovascular Disord
Fri. Oct 11, 2024 6:00 PM - 7:00 PM JST
Fri. Oct 11, 2024 9:00 AM - 10:00 AM UTC
Fri. Oct 11, 2024 9:00 AM - 10:00 AM UTC
Poster Room
[P2-06-1]Advancing Genomic Medicine through Quality-Controlled Clinical Genetic Testing and Nationwide Genomics Consortium
○Yohei Miyashita1, Kaori Kugo1, Koshiro Kanaoka1, Yasuki Ishihara1, Yuji Sakahashi1, Manami Hama1, Miho Nagata2, Yoshihiro Asano1 (1.The National Cerebral and Cardiovascular Center, 2.Osaka University Graduate School of Medicine)
[P2-06-2]A case of Marfan syndrome with a new variant of the FBN1 gene
○Kenji Izumi1,2,3, Yuko Ohnuki1,2, Ai Unzaki1,2, Mizuho Suzuki1,2, Natsuko Senta2, Shunichiro Izumi1,2,3, Kei Takeshita1,2 (1.Department of Medical Ethics, Tokai University School of Medicine, Kanagawa, Japan, 2.Department of Clinical Genetics, Tokai University Hospital, 3.Department of Obstetrics and Gynecology, Tokai University School of Medicine)
[P2-06-3]A Japanese family with a novel DSP truncating variant: manifestation of various phenotypes as DSP cardiomyopathy
○Kazuyoshi Saito1, Yasuchika Kato2, Seiji Yamada3, Akira Yamada2, Daijiro Suzuki1, Arisa Kojima1, Hidetoshi Uchida1, Hideo Izawa2, Tadayoshi Hata1, Tetsushi Yoshikawa1 (1.Department of Pediatrics, School of Medicine, Fujita Health University, 2.Department of Cardiology, School of Medicine, Fujita Health University, 3.Division of Analytical Pathology, Oncology Innovation Center, Research Promotion Headquarters, Fujita Health University)
[P2-06-4]A case of asymptomatic Brugada syndrome with identified SCN5A exon4 deletion
○Noriko Onishi1, Motoi Nishimura1,2, Takatsugu Kajiyama3, Takayuki Ishige2, Yoshio Kobayashi3, Kazuyuki Matsushita1,2, Tomohiko Ichikawa1 (1.Division of clinical genetics, Chiba University Hospital, Chiba, Japan, 2.Division of Laboratory Medicine, Clinical Genetics and Proteomics, Chiba University Hospital, Chiba, Japan, 3.Department of Cardiovascular Medicine, Chiba University Hospital, Chiba, Japan)
[P2-06-5]A Pregnant Woman Diagnosed with Catecholamine-Induced Polymorphic Ventricular Tachycardia with Multiple Sudden Deaths
○Yoshimura Yoshihiro1,2, Rika Kawata1, Naomi Araki1, Yuichiro Iida1, Hitoshi Isohata1,2, Yu Yamazaki1,2, Youko Onishi1,2, Daigo Ochiai2, Fumio Takada1 (1.Department of Genetic Medicine, Kitasato University Hospital, Kanagawa, Japan, 2.Department of Obstetrics, Kitasato University School of Medicine, Kanagawa, Japan)
[P2-06-6]A large RYR2 duplication detected in a patient with fetal atrio-ventricular block by various detection methods
○Keiko Sonoda1, Junichi Ozawa2, Megumi Fukuyama3, Seiko Ohno1 (1.Medical Genome Center, National Cerebral and Cardiovascular Center, 2.Department of Pediatrics, Niigata University School of Medicine, 3.Department of Cardiovascular Medicine, Shiga University of Medical Science)
[P2-06-7]The confirmation of de novo KCNJ2 variants in Andersen-Tawil syndrome by next generation sequencer
○Madoka Tanimoto1, Keiko Sonoda1, Yosuke Higo2, Megumi Fukuyama2, Koichi Kato2, Minoru Horie2, Seiko Ohno1 (1.National Cerebral and Cardiovascular Center, Suita, Japan, 2.Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan)
[P2-06-8]Variations in Echocardiographic findings with Loeys-Dietz Syndrome type 4 with 2 types of variant mutations in TGFB
○Mika Saito1, Kanako Kishiki1, Yuuki Izumi2, Mai Terada2, Izumi Orui3, Hiroko Morisaki3 (1.Sakakibara Heart Institute, Pediatric Cardiology, Tokyo, Japan, 2.Sakakibara Heart Institute, Cardiology, Tokyo, Japan, 3.Sakakibara Heart Institute, Medical Genetics, Tokyo, Japan)
[P2-06-9]Two cases of Loeys-Dietz syndrome with different phenotypes induced by TGFBR2 Q532X
○Natsuko Inagaki1,2, Kazuyo Kiribayashi1, Sawako Tajima1, Dong Jingyi1, Masato Bingo1, Shinji Suzuki1,3, Hironobu Okuno1,3, Yasuyo Kashiwagi3 (1.Tokyo Medical University hospital, Clinical Genetics center, 2.Department of Cardiology, Tokyo Medical University, 3.Department of Pediatrics and Adolescent Medicine, Tokyo Medical University)
[P2-06-10]Arrhythmogenic right ventricular cardiomyopathy is a variance with poor-prognostic type of dilated cardiomyopathy
○Tsunenori Saito1, Kazuki Sugawara1, Yu-ki Iwasaki2, Eitaro Kodani1,2, Kuniya Asai2 (1.Department of Cardiovascular Medicine, Nippon Medical School Tama-Nagayama Hospital, Tokyo, Japan, 2.Department of Cardiovascular Medicine, Graduate School of Medicine, Nippon Medical School)
[P2-06-11]Protein S deficiency in an adult male lacking family history of thromboembolism
○Shinya Katoh1,4, Kazuki Ito2, Tsutomu Ogata1,3 (1.Genome center, Hamamatsu Medical Center, Hamamatsu, Japan, 2.Division of Cardiology, Internal Medicine III, Hamamatsu University School of Medicine, Hamamatsu, Japan, 3.Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan, 4.Patient support Center, Hamamatsu Medical Center, Hamamatsu, Japan)
[P2-06-12]Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy
○Keiichi Hirono1, Mami Nishiyama1, Kaori Tsuboi1, Mako Okabe1, Hideyuki Nakaoka1, Keijiro Ibuki1, Sayaka Ozawa1, Yukiko Hata2, Shojiro Ichimata2, Naoki Nishida2 (1.Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan, 2.Department of Legal Medicine, Faculty of Medicine, University of Toyama, Toyama, Japan)
[P2-06-13]Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction
○Natsuko Inagaki1, Shinji Suzuki2, Takeharu Hayashi3 (1.Department of Cardiology, Tokyo Medical University, 2.Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 3.Department of Physiology, Tokai University School of Medicine)