• 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

右心室双腔并肥厚型梗阻性心肌病，诊断为努南综合征。

Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome.

机构信息

Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Center for Metabolic Regulation of Healthy Aging, Kumamoto University, Kumamoto, Japan.

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

出版信息

ESC Heart Fail. 2020 Apr;7(2):721-726. doi: 10.1002/ehf2.12650. Epub 2020 Feb 20.

DOI:10.1002/ehf2.12650
PMID:32078254
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7160468/
Abstract

We present a case of double-chambered right ventricle (DCRV) complicated by hypertrophic obstructive cardiomyopathy (HOCM) in KRAS mutation-associated Noonan syndrome. The diagnosis was incidental and made during diagnostic testing for an intradural extramedullary tumour. Spinal compression, if not surgically treated, may cause paralysis of the extremities. We decided to pursue pharmacological therapy to control biventricular obstructions and reduce the perioperative complication rate. We initiated treatment with cibenzoline and bisoprolol; the doses were titrated according to the response. After 2 weeks, the peak pressure gradient of the two RV chambers decreased from 101 to 68 mmHg, and the LV peak pressure gradient decreased from 109 to 14 mmHg. Class 1A antiarrhythmic drugs and β-blockers decreased the severe pressure gradients of biventricular obstructions caused by DCRV and HOCM. The patient was able to undergo surgery to remove the intradural extramedullary tumour, which was diagnosed as schwannoma.

摘要

我们报告了一例 KRAS 突变相关努南综合征合并双腔右心室（DCRV）并肥厚型梗阻性心肌病（HOCM）的病例。该诊断是在对椎管内髓外肿瘤进行诊断性检查时偶然发现的。如果不进行手术治疗，脊柱受压可能导致四肢瘫痪。我们决定采用药物治疗来控制双心室梗阻并降低围手术期并发症的发生率。我们开始使用西苯唑啉和比索洛尔进行治疗；根据反应调整剂量。2 周后，两个 RV 腔的峰值压力梯度从 101mmHg 降至 68mmHg，LV 的峰值压力梯度从 109mmHg 降至 14mmHg。1A 类抗心律失常药物和β受体阻滞剂降低了 DCRV 和 HOCM 引起的双心室梗阻的严重压力梯度。患者能够接受手术切除椎管内髓外肿瘤，该肿瘤被诊断为神经鞘瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/64c0ebad7c80/EHF2-7-721-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/ba59eeba011a/EHF2-7-721-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/efd5bc7f8772/EHF2-7-721-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/25abc59aeac7/EHF2-7-721-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/c58dc6fd8bbd/EHF2-7-721-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/cf950f7f437a/EHF2-7-721-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/64c0ebad7c80/EHF2-7-721-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/ba59eeba011a/EHF2-7-721-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/efd5bc7f8772/EHF2-7-721-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/25abc59aeac7/EHF2-7-721-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/c58dc6fd8bbd/EHF2-7-721-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/cf950f7f437a/EHF2-7-721-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2737/7160468/64c0ebad7c80/EHF2-7-721-g006.jpg

相似文献

1
Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome.右心室双腔并肥厚型梗阻性心肌病，诊断为努南综合征。
ESC Heart Fail. 2020 Apr;7(2):721-726. doi: 10.1002/ehf2.12650. Epub 2020 Feb 20.
2
Attenuation of biventricular pressure gradients by cibenzo-line in an 18-year-old patient with hypertrophic obstructive cardiomyopathy.西苯唑啉对一名18岁肥厚型梗阻性心肌病患者双心室压力梯度的衰减作用
Circ J. 2002 Dec;66(12):1173-5. doi: 10.1253/circj.66.1173.
3
Effect of cibenzoline, a class ia antiarrhythmic agent, on left ventricular diastolic function in hypertrophic cardiomyopathy.Ⅰa类抗心律失常药西苯唑啉对肥厚型心肌病左心室舒张功能的影响。
Cardiovasc Drugs Ther. 2001 Sep;15(5):459-65. doi: 10.1023/a:1013366211927.
4
Double-chambered right ventricle in an adult with Noonan syndrome.一名患有努南综合征的成年人的双腔右心室。
Cardiol Rev. 2006 Sep-Oct;14(5):e16-20. doi: 10.1097/01.crd.0000194163.60428.c0.
5
Case report: Double-chambered right ventricle diagnosed in a middle-aged female with hypertrophic cardiomyopathy and atrial flutter: A rare case.病例报告：一名患有肥厚型心肌病和心房扑动的中年女性被诊断为双腔右心室：罕见病例。
Front Cardiovasc Med. 2022 Jul 22;9:937758. doi: 10.3389/fcvm.2022.937758. eCollection 2022.
6
Biventricular Hypertrophic Cardiomyopathy in a 26-year-old Nigerian Woman with Noonan Syndrome.26 岁尼日利亚女性，Noonan 综合征患者，表现为双侧心室肥厚型心肌病。
West Afr J Med. 2024 Jul 30;41(7):826-830.
7
A unique case of a 7-year-old with noonan's syndrome, hypertrophic cardiomyopathy, biventricular outflow tract obstruction, and a right ventricular aneurysm.一名7岁儿童患努南综合征、肥厚型心肌病、双心室流出道梗阻及右心室瘤的独特病例。
J Am Coll Cardiol. 2013 Aug 13;62(7):643. doi: 10.1016/j.jacc.2013.01.105. Epub 2013 Jun 7.
8
Noonan syndrome and different morphologic expressions of hypertrophic cardiomyopathy.努南综合征与肥厚型心肌病的不同形态学表现
Pediatr Cardiol. 2013;34(8):1871-3. doi: 10.1007/s00246-012-0424-3. Epub 2012 Jul 13.
9
Effect of cibenzoline on biventricular pressure gradients in a pediatric patient with hypertrophic obstructive cardiomyopathy.西苯唑啉对一名肥厚型梗阻性心肌病患儿双心室压力梯度的影响。
Pediatr Cardiol. 2010 Jul;31(5):707-10. doi: 10.1007/s00246-010-9651-7. Epub 2010 Feb 7.
10
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation.MEK抑制剂可逆转RIT1突变型努南综合征中的肥厚型心肌病：首次在与RIT1突变相关的努南综合征中逆转了肥厚型心肌病。
Am J Med Genet A. 2019 Aug;179(8):1408-1409. doi: 10.1002/ajmg.a.40456.

引用本文的文献

1
[Double-chambered right ventricle in a patient with hypertrophic cardiomyopathy. A case report].[肥厚型心肌病患者的双腔右心室。病例报告]
Arch Peru Cardiol Cir Cardiovasc. 2025 Feb 12;6(1):49-53. doi: 10.47487/apcyccv.v6i1.440. eCollection 2025 Jan-Mar.
2
Multimodality Imaging in Noonan Syndrome: Case Series of Young Children.努南综合征的多模态成像：幼儿病例系列
Radiol Cardiothorac Imaging. 2023 Feb 23;5(1):e220218. doi: 10.1148/ryct.220218. eCollection 2023 Feb.
3
Case report: Double-chambered right ventricle diagnosed in a middle-aged female with hypertrophic cardiomyopathy and atrial flutter: A rare case.

本文引用的文献

1
Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy.儿童期发病的努南综合征与肌节肥厚型心肌病的长期预后比较。
Cardiovasc Diagn Ther. 2019 Oct;9(Suppl 2):S299-S309. doi: 10.21037/cdt.2019.05.01.
2
Shp2 in myocytes is essential for cardiovascular and neointima development.肌细胞中的 Shp2 对于心血管和新生内膜的发育是必需的。
J Mol Cell Cardiol. 2019 Dec;137:71-81. doi: 10.1016/j.yjmcc.2019.09.014. Epub 2019 Oct 18.
3
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
病例报告：一名患有肥厚型心肌病和心房扑动的中年女性被诊断为双腔右心室：罕见病例。
Front Cardiovasc Med. 2022 Jul 22;9:937758. doi: 10.3389/fcvm.2022.937758. eCollection 2022.
LZTR1 突变通过失调 RAS 泛素化驱动人类疾病。
Science. 2018 Dec 7;362(6419):1177-1182. doi: 10.1126/science.aap7607. Epub 2018 Nov 15.
4
Cardiovascular disease in Noonan syndrome.努南综合征相关心血管疾病
Curr Opin Pediatr. 2018 Oct;30(5):601-608. doi: 10.1097/MOP.0000000000000669.
5
An uncommon variant of double-chambered right ventricle masquerading as double-chambered left ventricle.一种伪装成双腔左心室的罕见双腔右心室变体。
Interact Cardiovasc Thorac Surg. 2018 Feb 1;26(2):350-352. doi: 10.1093/icvts/ivx287.
6
Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.发育性SHP2功能障碍是雀斑样痣综合征相关心脏肥大的基础。
J Clin Invest. 2016 Aug 1;126(8):2989-3005. doi: 10.1172/JCI80396. Epub 2016 Jun 27.
7
Surgical Ventricular Septal Myectomy for Patients With Noonan Syndrome and Symptomatic Left Ventricular Outflow Tract Obstruction.为患有努南综合征和有症状的左心室流出道梗阻患者实施外科室间隔心肌切除术。
Am J Cardiol. 2015 Oct 1;116(7):1116-21. doi: 10.1016/j.amjcard.2015.06.037. Epub 2015 Jul 16.
8
Long-term natural history and postoperative outcome of double-chambered right ventricle--experience from two tertiary adult congenital heart centres and review of the literature.双腔右心室的长期自然病史及术后结局——来自两家三级成人先天性心脏病中心的经验及文献综述
Int J Cardiol. 2014 Jul 1;174(3):662-8. doi: 10.1016/j.ijcard.2014.04.177. Epub 2014 Apr 26.
9
Noonan syndrome.努南综合征。
Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10.
10
The role of cardiovascular magnetic resonance in adults with congenital heart disease.心血管磁共振在先天性心脏病成人中的作用。
Prog Cardiovasc Dis. 2011 Nov-Dec;54(3):295-304. doi: 10.1016/j.pcad.2011.07.006.