• 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

1p36缺失综合征患儿扩张型心肌病伴局限性心肌致密化不全的病理特征

Pathologic features of dilated cardiomyopathy with localized noncompaction in a child with deletion 1p36 syndrome.

作者信息

Pearce F Bennett, Litovsky Silvio H, Dabal Robert J, Robin Nathaniel, Dure Leon J, George James F, Kirklin James K

机构信息

Department of Pediatrics, University of Alabama School of Medicine, 619 19th St. S., Birmingham, AL 35249-6852, USA.

出版信息

Congenit Heart Dis. 2012 Jan-Feb;7(1):59-61. doi: 10.1111/j.1747-0803.2011.00514.x. Epub 2011 Apr 14.

DOI:10.1111/j.1747-0803.2011.00514.x
PMID:21492410
Abstract

Dilated cardiomyopathy and ventricular noncompaction have been reported in association with deletion 1p36 syndrome. Previous descriptions include echocardiographic and/or gross pathologic descriptions. There are no previous reports of microscopic findings. We report a case with descriptions of echocardiographic, gross pathologic, and microscopic findings.

摘要

已有报道称扩张型心肌病和心室肌致密化不全与1p36缺失综合征相关。既往描述包括超声心动图和/或大体病理学描述。此前尚无微观发现的报道。我们报告一例病例，并对其超声心动图、大体病理学和微观发现进行描述。

相似文献

1
Pathologic features of dilated cardiomyopathy with localized noncompaction in a child with deletion 1p36 syndrome.1p36缺失综合征患儿扩张型心肌病伴局限性心肌致密化不全的病理特征
Congenit Heart Dis. 2012 Jan-Feb;7(1):59-61. doi: 10.1111/j.1747-0803.2011.00514.x. Epub 2011 Apr 14.
2
Left ventricular noncompaction cardiomyopathy: adult association with 1p36 deletion syndrome.左心室致密化不全心肌病：成人与1p36缺失综合征的关联。
Methodist Debakey Cardiovasc J. 2014 Oct-Dec;10(4):258-9. doi: 10.14797/mdcj-10-4-258.
3
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.1p36 缺失综合征的精细定位确定 PRDM16 突变是心肌病的一个原因。
Am J Hum Genet. 2013 Jul 11;93(1):67-77. doi: 10.1016/j.ajhg.2013.05.015. Epub 2013 Jun 13.
4
Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.PRDM16缺失不太可能在1p36缺失综合征中导致心肌病。
Am J Hum Genet. 2014 Jan 2;94(1):153-4. doi: 10.1016/j.ajhg.2013.11.016.
5
Allograft pathology in patients transplanted for idiopathic dilated cardiomyopathy.同种异体移植病理学在特发性扩张型心肌病患者中的应用。
Am J Surg Pathol. 2012 Mar;36(3):389-95. doi: 10.1097/PAS.0b013e31823b02f5.
6
Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa.
Circ Heart Fail. 2012 Sep 1;5(5):e81-2. doi: 10.1161/CIRCHEARTFAILURE.112.969675.
7
Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy.早期婴儿期左室心肌致密化不全患者中 Tafazzin 变异对扩张型心肌病表型的临床和超声心动图影响。
Circ J. 2018 Sep 25;82(10):2609-2618. doi: 10.1253/circj.CJ-18-0470. Epub 2018 Aug 18.
8
Heart transplantation in child with non-compacted myocardium.
Rev Bras Cir Cardiovasc. 2010 Apr-Jun;25(2):261-3. doi: 10.1590/s0102-76382010000200023.
9
[Clinicopathologic analyses of non-compaction of ventricular myocardium].心室心肌致密化不全的临床病理分析
Zhonghua Bing Li Xue Za Zhi. 2009 May;38(5):333-6.
10
Left ventricular noncompaction associated with hypertrophic cardiomyopathy: echocardiographic diagnosis and genetic analysis of a new pedigree in China.左心室心肌致密化不全合并肥厚型心肌病：中国一新家系的超声心动图诊断及遗传学分析。
Int J Cardiol. 2014 Jun 15;174(2):249-59. doi: 10.1016/j.ijcard.2014.03.006. Epub 2014 Mar 15.

引用本文的文献

1
Inherited Arrhythmias in the Pediatric Population: An Updated Overview.儿科人群遗传性心律失常：最新概述。
Medicina (Kaunas). 2024 Jan 3;60(1):94. doi: 10.3390/medicina60010094.
2
The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.儿童心肌病基因检测的临床应用：从诊断到基于精准医学的护理方法。
Prog Pediatr Cardiol. 2021 Sep;62. doi: 10.1016/j.ppedcard.2021.101413. Epub 2021 Jul 1.