与肥厚型心肌病和先天性心脏病相关的努南综合征的心脏磁共振成像特征 - Suppr

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Cardiac MRI Characteristics of Noonan Syndrome Associated With Hypertrophic Cardiomyopathy and Congenital Heart Disease.

作者信息

Peng Zhengxuan, Ma Xiaoyan, Li Shibo, Liu Xingguang, Zhou Xing

机构信息

The First Clinical Medical College, Gansu University of Chinese Medicine, Lanzhou, China.

Department of Cardiovascular Surgery, Gansu Provincial Hospital, Lanzhou, China.

出版信息

Korean J Radiol. 2025 Apr;26(4):394-396. doi: 10.3348/kjr.2024.1316.

DOI:10.3348/kjr.2024.1316

PMID:40150924

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11955389/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aab9/11955389/34d2de66e46e/kjr-26-394-g001.jpg

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本文引用的文献

High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.

J Appl Genet. 2024 May;65(2):303-308. doi: 10.1007/s13353-023-00803-6. Epub 2023 Nov 21.

Multimodality Imaging in Noonan Syndrome: Case Series of Young Children.

Radiol Cardiothorac Imaging. 2023 Feb 23;5(1):e220218. doi: 10.1148/ryct.220218. eCollection 2023 Feb.

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):160-166. doi: 10.1002/ajmg.c.32034. Epub 2023 Feb 3.

Differential Diagnosis of Thick Myocardium according to Histologic Features Revealed by Multiparametric Cardiac Magnetic Resonance Imaging.

Korean J Radiol. 2022 Jun;23(6):581-597. doi: 10.3348/kjr.2021.0815. Epub 2022 May 9.

Gonadal function in Noonan syndrome.

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Noonan syndrome: improving recognition and diagnosis.

Arch Dis Child. 2022 Dec;107(12):1073-1078. doi: 10.1136/archdischild-2021-322858. Epub 2022 Mar 4.

MEK Inhibition in a Newborn with -Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.

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Noonan syndrome.

Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187.

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