Article
A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.
American journal of medical genetics. Part A - 1 Dec 2023
Chida-Nagai Ayako, Tonoki Hidefumi, Makita Naomasa, Ishiyama Hiroyuki, Ihara Masafumi, Maruo Yuji, Tsujioka Takao, Sasaki Daisuke, Izumi Gaku, Yamazawa Hirokuni, Kato Nobuyasu, Ito Masaki, Fujimura Miki, Sasaki Osamu, Takeda Atsuhito
Abstract excerpt
Left main coronary artery ostial atresia (LMCAOA) is an extremely rare condition. Here, we report the case of a 14-year-old boy with Noonan syndrome-like disorder in whom LMCAOA was detected following cardiopulmonary arrest. The patient had been diagnosed with Noonan syndrome-like disorder with a pathogenic splice site variant of CBL c.1228-2 A > G. He suddenly collapsed when he was running. After administering...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.