留言板

尊敬的读者、作者、审稿人, 关于本刊的投稿、审稿、编辑和出版的任何问题, 您可以本页添加留言。我们将尽快给您答复。谢谢您的支持!

姓名
邮箱
手机号码
标题
留言内容
验证码

罕见心血管疾病诊疗进展

张抒扬 田庄 张舒媛 王泽源

张抒扬, 田庄, 张舒媛, 王泽源. 罕见心血管疾病诊疗进展[J]. 罕见病研究, 2023, 2(1): 1-5. doi: 10.12376/j.issn.2097-0501.2023.01.001
引用本文: 张抒扬, 田庄, 张舒媛, 王泽源. 罕见心血管疾病诊疗进展[J]. 罕见病研究, 2023, 2(1): 1-5. doi: 10.12376/j.issn.2097-0501.2023.01.001
ZHANG Shuyang, TIAN Zhuang, ZHANG Shuyuan, WANG Zeyuan. Advances in the Diagnosis and Treatment of Rare Cardiovascular Diseases[J]. Journal of Rare Diseases, 2023, 2(1): 1-5. doi: 10.12376/j.issn.2097-0501.2023.01.001
Citation: ZHANG Shuyang, TIAN Zhuang, ZHANG Shuyuan, WANG Zeyuan. Advances in the Diagnosis and Treatment of Rare Cardiovascular Diseases[J]. Journal of Rare Diseases, 2023, 2(1): 1-5. doi: 10.12376/j.issn.2097-0501.2023.01.001

罕见心血管疾病诊疗进展

doi: 10.12376/j.issn.2097-0501.2023.01.001
基金项目: 

中国医学科学院医学与健康科技创新工程 2021-I2M-1-003

详细信息
    通信作者:

    张抒扬,E-mail:shuyangzhang103@163.com

  • 中图分类号: R-1; R54

Advances in the Diagnosis and Treatment of Rare Cardiovascular Diseases

Funding: 

Chinese Academy of Medical Sciences(CAMS) Innovation Fund for Medical Sciences 2021-I2M-1-003

More Information
  • 摘要: 罕见心血管疾病发病早、死亡率较高,患者长期面临诊断难和治疗率低的困境,因此亟需提升罕见病诊疗水平,加速罕见心血管疾病药物的筛选和研发。近年来,随着新技术和基础研究的迅猛发展,罕见心血管疾病诊疗有了突破性进展。本文总结罕见心血管疾病诊疗的相关研究进展,并对未来研究方向做出展望。

     

  • [1] 国家卫生健康委员会, 科学技术部, 工业和信息化部, 等. 关于公布第一批罕见病目录的通知(国卫医发〔2018〕10号)[EB/OL]. (2018-06-08)[2022-11-29]. http://www.gov.cn/gongbao/content/2018/content_5338244.htm.
    [2] Zhou M, Wang H, Zeng X et al. Mortality, morbidity, and risk factors in China and its provinces, 1990—2017: a systematic analysis for the Global Burden of Disease Study 2017[J]. Lancet, 2019, 394(10204): 1145-1158. doi: 10.1016/S0140-6736(19)30427-1
    [3] 中国心血管健康与疾病报告编写组. 中国心血管健康与疾病报告2021概要[J]. 中国循环杂志, 2022, 37(6): 553-578. doi: 10.3969/j.issn.1000-3614.2022.06.001
    [4] 国家卫生健康委办公厅. 关于印发罕见病诊疗指南(2019年版)的通知(国卫办医函〔2019〕198号)[EB/OL]. (2019-02-28)[2022-12-07]. http://www.gov.cn/fuwu/2019-02/28/content_5369203.htm.
    [5] Turro E, Astle WJ, Megy K, et al. Whole-genome sequencing of patients with rare diseases in a national health system[J]. Nature, 2020, 583(7814): 96-102. doi: 10.1038/s41586-020-2434-2
    [6] Mizusawa Y, Horie M, Wilde AA. Genetic and clinical advances in congenital long QT syndrome[J]. Circ J, 2014, 78(12): 2827-2833. doi: 10.1253/circj.CJ-14-0905
    [7] Priest JR, Ceresnak SR, Dewey FE, et al. Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing[J]. Heart Rhythm, 2014, 11(10): 1707-1713. doi: 10.1016/j.hrthm.2014.06.030
    [8] Reichart D, Lindberg EL, Maatz H, et al. Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies[J]. Science, 2022, 377(6606): eabo1984. doi: 10.1126/science.abo1984
    [9] McAfee Q, Chen CY, Yang Y, et al. Truncated titin proteins in dilated cardiomyopathy[J]. Sci Transl Med, 2021, 13(618): eabd7287. doi: 10.1126/scitranslmed.abd7287
    [10] Liu H, Jin Y, Tian R, et al. A comprehensive analysis of genomics and metagenomics in a heterozygote familial hypercholesterolemia family[J]. Front Cell Infect Microbiol, 2021, 11: 605954. doi: 10.3389/fcimb.2021.605954
    [11] Chen L, Song J, Chen X, et al. A novel genotype-based clinicopathology classification of arrhythmogenic cardiomyopathy provides novel insights into disease progression[J]. Eur Heart J, 2019, 40(21): 1690-1703. doi: 10.1093/eurheartj/ehz172
    [12] Goto S, Mahara K, Beuussink-Nelson L, et al. Artificial intelligence-enabled fully automated detection of cardiac amyloidosis using electrocardiograms and echocardiograms[J]. Nat Commun, 2021, 12(1): 2726. doi: 10.1038/s41467-021-22877-8
    [13] Kwon JM, Kim KH, Medina-Inojosa J, et al. Artificial intelligence for early prediction of pulmonary hypertension using electrocardiography[J]. J Heart Lung Transplant, 2020, 39(8): 805-814. doi: 10.1016/j.healun.2020.04.009
    [14] Ko WY, Siontis KC, Attia ZI, et al. Detection of hypertrophic cardiomyopathy using a convolutional neural network-enabled electrocardiogram[J]. J Am Coll Cardiol, 2020, 75(7): 722-733. doi: 10.1016/j.jacc.2019.12.030
    [15] Shrivastava S, Cohen-Shelly M, Attia ZI, et al. Artificial intelligence-enabled electrocardiography to screen patients with dilated cardiomyopathy[J]. Am J Cardiol, 2021, 155: 121-127. doi: 10.1016/j.amjcard.2021.06.021
    [16] Zhao Q, Wang X, Wang S, et al. Cardiotoxicity evaluation using human embryonic stem cells and induced pluripotent stem cell-derived cardiomyocytes[J]. Stem Cell Res Ther, 2017, 8(1): 54. doi: 10.1186/s13287-017-0473-x
    [17] Cerrone M, Lin X, Zhang M, et al. Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype[J]. Circulation, 2014, 129(10): 1092-1103. doi: 10.1161/CIRCULATIONAHA.113.003077
    [18] Liang P, Sallam K, Wu H, et al. Patient-specific and genome-edited induced pluripotent stem cell-derived cardiomyocytes elucidate single-cell phenotype of Brugada syndrome[J]. J Am Coll Cardiol, 2016, 68(19): 2086-2096. doi: 10.1016/j.jacc.2016.07.779
    [19] Yang J, Grafton F, Ranjbarvaziri S, et al. Phenotypic screening with deep learning identifies HDAC6 inhibitors as cardioprotective in a BAG3 mouse model of dilated cardiomyopathy[J]. Sci Transl Med, 2022, 14(652): eabl5654. doi: 10.1126/scitranslmed.abl5654
    [20] Lewis-Israeli YR, Wasserman AH, Gabalski MA, et al. Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease[J]. Nat Commun, 2021, 12(1): 5142. doi: 10.1038/s41467-021-25329-5
    [21] Bass-Stringer S, Bernardo BC, May CN, et al. Adeno-associated virus gene therapy: translational progress and future prospects in the treatment of heart failure[J]. Heart Lung Circ, 2018, 27(11): 1285-1300. doi: 10.1016/j.hlc.2018.03.005
    [22] Yu G, Chakrabarti S, Tischenko M, et al. Gene therapy targeting protein trafficking regulator MOG1 in mouse models of Brugada syndrome, arrhythmias, and mild cardiomyopathy[J]. Sci Transl Med, 2022, 14(648): eabf3136. doi: 10.1126/scitranslmed.abf3136
    [23] Heggermont WA, Papageorgiou AP, Quaegebeur A, et al. Inhibition of microRNA-146a and overexpression of its target dihydrolipoyl succinyltransferase protect against pressure overload-induced cardiac hypertrophy and dysfunction[J]. Circulation, 2017, 136(8): 747-761. doi: 10.1161/CIRCULATIONAHA.116.024171
    [24] Gillmore JD, Gane E, Taubel J, et al. CRISPR-Cas9 in vivo gene editing for transthyretin amyloid-osis[J]. N Engl J Med, 2021, 385(6): 493-502. doi: 10.1056/NEJMoa2107454
    [25] 国家药品监督管理局药品审评中心. 关于发布第一批临床急需境外新药名单的通知[EB/OL]. (2018-11-01)[2022-11-29]. https://www.cde.org.cn/main/news/viewInfoCommon/21de8acd6c395746b041b2ad93eb5c43.
  • 加载中
计量
  • 文章访问数:  423
  • HTML全文浏览量:  133
  • PDF下载量:  123
  • 被引次数: 0
出版历程
  • 收稿日期:  2023-01-04
  • 修回日期:  2023-01-12

目录

    /

    返回文章
    返回

    【温馨提醒】近日,《罕见病研究》编辑部接到作者反映,有多名不法人员冒充期刊编辑通过邮箱或者短信发送见刊通知,鼓动作者添加微信,从而骗取版面费的行为。特提醒您,本刊与作者联系的方式均为邮件通知或电话,稿件进度通知邮箱:jrd@chard.org.cn,编辑部电话:010-85893835,请提高警惕,谨防上当受骗!如有任何疑问,请致电编辑部核实。谢谢!