• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

豹综合征的多模态成像：心肌肥厚伴弥漫性冠状动脉扩张

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

作者信息

Yang Dan, Wang Yining, Lu Minjie

机构信息

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

Department of Magnetic Resonance Imaging, Xinyang Central Hospital, Henan, China.

出版信息

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

DOI:10.1016/j.jaccas.2022.07.002
PMID:36062059
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9434644/
Abstract

We describe the case of a 5-year-old girl with genetically confirmed LEOPARD syndrome (LS) who presented with multiple lentigines, ocular hypertelorism, retardation of growth, myocardial hypertrophy, and diffuse coronary artery dilatation. This case highlights the importance of multimodality imaging for the assessment of LS-associated cardiovascular alterations and follow-up. ().

摘要

我们描述了一名5岁女童的病例，其基因检测确诊为豹斑综合征（LS），表现为多发性雀斑样痣、眼距增宽、生长发育迟缓、心肌肥厚和弥漫性冠状动脉扩张。该病例强调了多模态成像在评估LS相关心血管改变及随访中的重要性。（）

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/29dfb9dbd0d2/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/ca9580fa390f/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/639291eb6c5f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/6337eeca975b/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/9cc56fc8242b/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/8558de95aa6e/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/29dfb9dbd0d2/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/ca9580fa390f/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/639291eb6c5f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/6337eeca975b/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/9cc56fc8242b/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/8558de95aa6e/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/9434644/29dfb9dbd0d2/gr5.jpg

相似文献

1
Multimodality Imaging of LEOPARD Syndrome: Myocardial Hypertrophy With Diffuse Coronary Artery Dilation.豹综合征的多模态成像：心肌肥厚伴弥漫性冠状动脉扩张
JACC Case Rep. 2022 Aug 17;4(16):1042-1048. doi: 10.1016/j.jaccas.2022.07.002.
2
Case Report: Left ventricular apical hypertrophy in a patient with Leopard syndrome mimicking a cardiac tumor: a diagnostic challenge resolved by multimodality imaging.病例报告：豹皮综合征患者的左心室心尖肥厚酷似心脏肿瘤：多模态成像解决的诊断难题
Front Cardiovasc Med. 2024 Jul 22;11:1378078. doi: 10.3389/fcvm.2024.1378078. eCollection 2024.
3
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy.多发性雀斑样痣患者心血管检查的重要性：两例伴有肥厚型心肌病的豹斑综合征病例
Acta Clin Belg. 2019 Apr;74(2):82-85. doi: 10.1080/17843286.2018.1467531. Epub 2018 May 2.
4
Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy.家族性 LEOPARD 综合征伴肥厚型心肌病。
Am J Cardiol. 2020 Nov 15;135:168-173. doi: 10.1016/j.amjcard.2020.08.027. Epub 2020 Aug 28.
5
A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes.一项标准超声心动图和组织多普勒研究，比较肥厚型心肌病患儿与努南综合征和豹皮综合征背景下左心室肥厚患儿的形态学和功能学表现。
Cardiol Young. 2008 Dec;18(6):575-80. doi: 10.1017/S104795110800320X. Epub 2008 Oct 9.
6
Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.豹皮综合征家族中的严重早发性肥厚型心肌病。
J Prenat Med. 2008 Apr;2(2):24-6.
7
Leopard syndrome.豹皮综合征
Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13.
8
The regional myocardial microvascular dysfunction differences in hypertrophic cardiomyopathy patients with or without left ventricular outflow tract obstruction: assessment with first-pass perfusion imaging using 3.0-T cardiac magnetic resonance.肥厚型心肌病伴或不伴左心室流出道梗阻患者的局部心肌微血管功能障碍差异：使用3.0-T心脏磁共振首次通过灌注成像进行评估
Eur J Radiol. 2014 Apr;83(4):665-72. doi: 10.1016/j.ejrad.2014.01.008. Epub 2014 Jan 16.
9
Acute Myocarditis Mimicking Hypertrophic Cardiomyopathy in Marfan Syndrome and Morphologically Abnormal Mitral Valve.马凡综合征中酷似肥厚型心肌病且形态异常二尖瓣的急性心肌炎
JACC Case Rep. 2022 Jan 19;4(2):105-110. doi: 10.1016/j.jaccas.2021.11.023.
10
A LEOPARD mimicking ST-elevation myocardial infarction.酷似 ST 段抬高型心肌梗死的豹型斑块。
Am J Cardiol. 2011 Jul 1;108(1):169-71. doi: 10.1016/j.amjcard.2011.02.355. Epub 2011 Apr 29.

引用本文的文献

1
LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review.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
ESC Heart Fail. 2025 Feb;12(1):664-667. doi: 10.1002/ehf2.15014. Epub 2024 Aug 15.
2
Case Report: Left ventricular apical hypertrophy in a patient with Leopard syndrome mimicking a cardiac tumor: a diagnostic challenge resolved by multimodality imaging.病例报告：豹皮综合征患者的左心室心尖肥厚酷似心脏肿瘤：多模态成像解决的诊断难题
Front Cardiovasc Med. 2024 Jul 22;11:1378078. doi: 10.3389/fcvm.2024.1378078. eCollection 2024.

本文引用的文献

1
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.RAS opathy 家族：种系激活 RAS/MAPK 通路的后果。
Endocr Rev. 2018 Oct 1;39(5):676-700. doi: 10.1210/er.2017-00232.
2
Accelerated Cardiomyocyte Proliferation in the Heart of a Neonate With LEOPARD Syndrome-Associated Fatal Cardiomyopathy.患有豹斑综合征相关致命心肌病的新生儿心脏中加速的心肌细胞增殖
Circ Heart Fail. 2018 Apr;11(4):e004660. doi: 10.1161/CIRCHEARTFAILURE.117.004660.
3
LEOPARD Syndrome: Clinical Features and Gene Mutations.豹皮综合征：临床特征与基因突变
Mol Syndromol. 2012 Oct;3(4):145-57. doi: 10.1159/000342251. Epub 2012 Aug 29.
4
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene.由PTPN11基因中Tyr279Cys突变引起的豹皮综合征
Mol Syndromol. 2012 Apr;2(6):251-253. doi: 10.1159/000335995. Epub 2012 Jan 31.
5
Coronary artery dilatation in LEOPARD syndrome. A child case and literature review.豹皮综合征中的冠状动脉扩张。1例儿童病例及文献复习
Congenit Heart Dis. 2009 Jan-Feb;4(1):38-41. doi: 10.1111/j.1747-0803.2008.00243.x.
6
Leopard syndrome.豹皮综合征
Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13.
7
Diffuse coronary dilation in a young patient with LEOPARD syndrome.一名患有豹皮综合征的年轻患者出现弥漫性冠状动脉扩张。
Int J Cardiol. 2006 Sep 20;112(2):e35-7. doi: 10.1016/j.ijcard.2006.02.037. Epub 2006 Aug 10.
8
Multiple lentigenes syndrome.多发雀斑样痣综合征
Am J Dis Child. 1969 Jun;117(6):652-62. doi: 10.1001/archpedi.1969.02100030654006.
9
Multiple lentigines syndrome. Case report and review of the literature.多发性雀斑样痣综合征。病例报告及文献复习。
Am J Med. 1976 Mar;60(3):447-56. doi: 10.1016/0002-9343(76)90764-6.