• 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

肌节性心肌病的形态力学表型变异性：多因素多基因视角。

Morphomechanic phenotypic variability of sarcomeric cardiomyopathies: A multifactorial polygenic perspective.

机构信息

Duke/NSF Center for Emerging Cardiovascular Technologies, Emeritus Faculty of Surgery and of Biomedical Engineering, Duke University School of Medicine and Graduate School, Durham, NC, USA.

出版信息

J Mol Cell Cardiol. 2019 Jan;126:23-35. doi: 10.1016/j.yjmcc.2018.10.024. Epub 2018 Nov 10.

DOI:10.1016/j.yjmcc.2018.10.024
PMID:30423317
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6367676/
Abstract

Morphology underlies subdivision of the primary/heritable sarcomeric cardiomyopathies (CMs) into hypertrophic (HCM) and dilated (DCM). Next-generation DNA-sequencing (NGS) has identified important disease-variants, improving CM diagnosis, management, genetic screening, and prognosis. Although monogenic (Mendelian) analyses directly point at downstream studies, they disregard coexisting genomic variations and gene-by-gene interactions molding detailed CM-phenotypes. In-place of polygenic models, in accounting for observed defective genotype-phenotype correlations, fuzzy concepts having gradations of significance and unsharp domain-boundaries are invoked, including pleiotropy, genetic-heterogeneity, incomplete penetrance, and variable expressivity. HCM and DCM undoubtedly entail cooperativity of unidentified/elusive causative genomic-variants. Modern genomics can exploit comprehensive electronic/digital health records, facilitating consideration of multifactorial variant-models. Genome-wide association studies entailing high-fidelity solid-state catheterization, multimodal-imaging, molecular cardiology, systems biology and bioinformatics, will decipher accurate genotype-phenotype correlations and identify novel therapeutic-targets, fostering personalized medicine/cardiology. This review surveys successes and challenges of genetic/genomic approaches to CMs, and their impact on current and future clinical care.

摘要

形态学是将原发性/遗传性肌节性心肌病 (CM) 细分为肥厚型 (HCM) 和扩张型 (DCM) 的基础。下一代 DNA 测序 (NGS) 已经确定了重要的疾病变异，从而改善了 CM 的诊断、管理、基因筛查和预后。尽管单基因 (孟德尔) 分析直接指向下游研究，但它们忽略了共存的基因组变异和基因间相互作用，这些因素塑造了详细的 CM 表型。在多基因模型中，为了解释观察到的缺陷基因型-表型相关性，引入了模糊概念，包括多效性、遗传异质性、不完全外显率和可变表达性，这些概念具有不同程度的意义和不清晰的域边界。HCM 和 DCM 无疑需要不明/难以捉摸的致病基因组变异的协同作用。现代基因组学可以利用全面的电子/数字健康记录，促进多因素变异模型的考虑。全基因组关联研究需要高保真固态导管插入术、多模态成像、分子心脏病学、系统生物学和生物信息学，将解析准确的基因型-表型相关性，并确定新的治疗靶点，促进个性化医学/心脏病学。本综述调查了 CM 的遗传/基因组方法的成功和挑战，以及它们对当前和未来临床护理的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/131d785bb5a7/nihms-1513088-f0008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/5749ec726139/nihms-1513088-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/0959514ef569/nihms-1513088-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/0475df096fe6/nihms-1513088-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/05fae592b7ba/nihms-1513088-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/70a8a1fbd634/nihms-1513088-f0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/a4b905ecd9a5/nihms-1513088-f0007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/131d785bb5a7/nihms-1513088-f0008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/5749ec726139/nihms-1513088-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/0959514ef569/nihms-1513088-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/0475df096fe6/nihms-1513088-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/05fae592b7ba/nihms-1513088-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/70a8a1fbd634/nihms-1513088-f0006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/a4b905ecd9a5/nihms-1513088-f0007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5d2/6367676/131d785bb5a7/nihms-1513088-f0008.jpg

相似文献

1
Morphomechanic phenotypic variability of sarcomeric cardiomyopathies: A multifactorial polygenic perspective.肌节性心肌病的形态力学表型变异性：多因素多基因视角。
J Mol Cell Cardiol. 2019 Jan;126:23-35. doi: 10.1016/j.yjmcc.2018.10.024. Epub 2018 Nov 10.
2
Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations.定义肌原性心肌病的表型和疾病进展：临床研究的当代作用。
Cardiovasc Res. 2015 Apr 1;105(4):409-23. doi: 10.1093/cvr/cvv024. Epub 2015 Jan 28.
3
Genetic advances in sarcomeric cardiomyopathies: state of the art.肌节性心肌病的遗传学进展：最新进展
Cardiovasc Res. 2015 Apr 1;105(4):397-408. doi: 10.1093/cvr/cvv025. Epub 2015 Jan 29.
4
Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype.心血管疾病的转化医学与基因组学综述：新的疾病分类及治疗意义——心肌病：基于分子表型的治疗方法
J Am Coll Cardiol. 2007 Mar 27;49(12):1251-64. doi: 10.1016/j.jacc.2006.10.073. Epub 2007 Mar 9.
5
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.肥厚型心肌病患者肌节和非肌节基因的分子分析。
Gene. 2016 Feb 15;577(2):227-35. doi: 10.1016/j.gene.2015.11.048. Epub 2015 Dec 2.
6
Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes.在培养皿中模拟肌节性心肌病：从人类心脏样本到诱导多能干细胞衍生的心肌细胞。
Cardiovasc Res. 2015 Apr 1;105(4):424-38. doi: 10.1093/cvr/cvv017. Epub 2015 Jan 24.
7
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.靶向新一代测序检测心肌病中新的基因-表型关联并扩展突变谱。
PLoS One. 2017 Jul 27;12(7):e0181842. doi: 10.1371/journal.pone.0181842. eCollection 2017.
8
Genetic cardiomyopathies.遗传性心肌病
Curr Opin Cardiol. 2018 May;33(3):354-362. doi: 10.1097/HCO.0000000000000512.
9
Sarcomeric cardiomyopathies: from bedside to bench and back.肌节性心肌病：从床边到实验室再回归临床
Cardiovasc Res. 2015 Apr 1;105(4):395-6. doi: 10.1093/cvr/cvv035. Epub 2015 Feb 13.
10
Involvement of human monogenic cardiomyopathy genes in experimental polygenic cardiac hypertrophy.人类单基因心肌病基因在实验性多基因心肌肥厚中的作用。
Physiol Genomics. 2018 Sep 1;50(9):680-687. doi: 10.1152/physiolgenomics.00143.2017. Epub 2018 May 18.

引用本文的文献

1
Hypertrophic Cardiomyopathy Through the Lens of Mitochondria.从线粒体角度看肥厚型心肌病
Biomedicines. 2025 Feb 28;13(3):591. doi: 10.3390/biomedicines13030591.
2
Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 2: Pluridisciplinary perspective on their genetic and molecular origins.BAV 与胸主动脉病变的临床病理相关性。第 2 部分：多学科视角下的遗传和分子起源。
J Mol Cell Cardiol. 2019 Aug;133:233-246. doi: 10.1016/j.yjmcc.2019.05.022. Epub 2019 Jun 6.
3
Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 1: Pluridisciplinary perspective on their hemodynamics and morphomechanics.

本文引用的文献

1
The 3D Genome Browser: a web-based browser for visualizing 3D genome organization and long-range chromatin interactions.3D 基因组浏览器：一个用于可视化 3D 基因组组织和长距离染色质相互作用的基于网络的浏览器。
Genome Biol. 2018 Oct 4;19(1):151. doi: 10.1186/s13059-018-1519-9.
2
The new era of whole-exome sequencing in congenital heart disease: brand-new insights into rare pathogenic variants.先天性心脏病全外显子测序的新时代：对罕见致病变异的全新见解。
J Thorac Dis. 2018 Jun;10(Suppl 17):S1923-S1929. doi: 10.21037/jtd.2018.05.56.
3
Scientific updates on the interaction of genes, epigenetics, and multicellularity in cardiovascular diseases: the Working Group of Myocardial Function of the ESC.
BAV 与相关胸主动脉病变的临床病理相关性。第 1 部分：血流动力学和形态力学的多学科视角。
J Mol Cell Cardiol. 2019 Aug;133:223-232. doi: 10.1016/j.yjmcc.2019.05.017. Epub 2019 May 28.
心血管疾病中基因、表观遗传学与多细胞性相互作用的科学进展：欧洲心脏病学会心肌功能工作组
Cardiovasc Res. 2018 Aug 1;114(10):1271-1272. doi: 10.1093/cvr/cvy149.
4
Metabolic changes in hypertrophic cardiomyopathies: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.肥厚型心肌病的代谢变化：欧洲心脏病学会心肌功能工作组的科学更新。
Cardiovasc Res. 2018 Aug 1;114(10):1273-1280. doi: 10.1093/cvr/cvy147.
5
Diseases diagnosis using fuzzy logic methods: A systematic and meta-analysis review.基于模糊逻辑方法的疾病诊断：系统评价和荟萃分析综述。
Comput Methods Programs Biomed. 2018 Jul;161:145-172. doi: 10.1016/j.cmpb.2018.04.013. Epub 2018 Apr 18.
6
Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.扩张型心肌病从基因型到表型的复杂途径：欧洲心脏病学会心肌功能工作组的科学更新。
Cardiovasc Res. 2018 Aug 1;114(10):1287-1303. doi: 10.1093/cvr/cvy122.
7
Epigenomes in Cardiovascular Disease.心血管疾病中的表观基因组学。
Circ Res. 2018 May 25;122(11):1586-1607. doi: 10.1161/CIRCRESAHA.118.311597.
8
Targeting Super-Enhancers for Disease Treatment and Diagnosis.靶向超级增强子治疗和诊断疾病。
Mol Cells. 2018 Jun;41(6):506-514. doi: 10.14348/molcells.2018.2297. Epub 2018 May 10.
9
Spectrum of Restrictive and Infiltrative Cardiomyopathies: Part 1 of a 2-Part Series.限制型和浸润型心肌病的分类：系列文章的第 1 部分
J Am Coll Cardiol. 2018 Mar 13;71(10):1130-1148. doi: 10.1016/j.jacc.2018.01.016.
10
Whole Exome Library Construction for Next Generation Sequencing.用于下一代测序的全外显子文库构建
Methods Mol Biol. 2018;1706:163-174. doi: 10.1007/978-1-4939-7471-9_9.