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

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 pa...

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Published in:American journal of medical genetics. Part A 2023-12, Vol.191 (12), p.2837-2842
Main Authors: 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
Format: Article
Language:English
Subjects:
Angina
Angina pectoris
Angioplasty
Congenital defects
Congenital diseases
Coronary artery
Coronary vessels
Magnetic resonance imaging
MAP kinase
Moyamoya disease
Myocardial infarction
Neuroimaging
Neurological complications
Noonan's syndrome
Pediatrics
Polymorphism
Risk factors
Signal transduction
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Summary: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 two electric shocks using an automated external defibrillator, the patient's heartbeat resumed. Cardiac catheterization confirmed the diagnosis of LMCAOA. Left main coronary artery angioplasty was performed. The patient was discharged without neurological sequelae. Brain magnetic resonance imaging revealed asymptomatic Moyamoya disease. In addition, RNF213 c.14429 G > A p.R4810K was identified. There are no reports on congenital coronary malformations of compound variations of RNF213 and CBL. In contrast, the RNF213 p.R4810K polymorphism has been established as a risk factor for angina pectoris and myocardial infarction in adults, and several congenital coronary malformations due to genetic abnormalities within the RAS/MAPK signaling pathway have been reported. This report aims to highlight the risk of sudden death in patients with RASopathy and RNF213 p.R4810K polymorphism and emphasize the significance of actively searching for coronary artery morphological abnormalities in these patients.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.63370