单卵双胞胎中伴有PTPN11基因突变的豹皮综合征：病例描述及文献综述 - Suppr

LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review.

作者信息

Zhou Yingwen, Yang Kai, Ma Kai, Lu Minjie

机构信息

Department of Magnetic Resonance Imaging, Fuwai Hospital and National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Department of Magnetic Resonance Imaging, Cangzhou Central Hospital, Cangzhou, China.

出版信息

ESC Heart Fail. 2025 Feb;12(1):664-667. doi: 10.1002/ehf2.15014. Epub 2024 Aug 15.

DOI:10.1002/ehf2.15014

PMID:39145467

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11769602/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ffb/11769602/48dbd4c67116/EHF2-12-664-g001.jpg

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LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review.

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本文引用的文献

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.

Circ Genom Precis Med. 2023 Aug;16(4):350-358. doi: 10.1161/CIRCGEN.122.003861. Epub 2023 May 18.

Multimodality Imaging of LEOPARD Syndrome: Myocardial Hypertrophy With Diffuse Coronary Artery Dilation.

JACC Case Rep. 2022 Aug 17;4(16):1042-1048. doi: 10.1016/j.jaccas.2022.07.002.

Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results From a National Population-Based Study.

Circulation. 2018 Jul 3;138(1):29-36. doi: 10.1161/CIRCULATIONAHA.117.028895. Epub 2018 Feb 28.

[Research progress on LEOPARD syndrome].

Zhonghua Xin Xue Guan Bing Za Zhi. 2016 Dec 24;44(12):1006-1009. doi: 10.3760/cma.j.issn.0253-3758.2016.12.003.

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

Am J Med Genet A. 2015 Apr;167A(4):744-51. doi: 10.1002/ajmg.a.36982. Epub 2015 Feb 23.

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Rev Esp Cardiol (Engl Ed). 2013 May;66(5):350-6. doi: 10.1016/j.rec.2012.09.015. Epub 2013 Jan 11.

Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry.

Am Heart J. 2012 Sep;164(3):442-8. doi: 10.1016/j.ahj.2012.04.018. Epub 2012 Aug 9.

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

Am J Cardiol. 2007 Aug 15;100(4):736-41. doi: 10.1016/j.amjcard.2007.03.093. Epub 2007 Jun 27.

Multiple lentigenes syndrome.

Am J Dis Child. 1969 Jun;117(6):652-62. doi: 10.1001/archpedi.1969.02100030654006.

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LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review.

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