原发性心肌病诊断新路径:从高分辨影像到分子精准医学New Clinical Diagnostic Pathway of Primary Cardiomyopathy: from High-resolution Imaging to Molecular Precision Medicine
吴炜;王怡宁;代静文;金征宇;张抒扬;
WU Wei;WANG Yi-ning;DAI Jing-wen;JIN Zheng-yu;ZHANG Shu-yang;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Center for Rare Diseases Research,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;
摘要(Abstract):
原发性心肌病的既往定义是一大类未明原因造成的心肌直接异常,而非继发于缺血、高血压、糖尿病、甲状腺功能亢进等因素。其临床诊断路径局限于描述心肌损害以后造成的心脏结构与功能异常,如扩张、肥厚、限制以及收缩性或舒张性心力衰竭等。随着诊断技术的进步,尤其是高分辨影像技术和分子精准医学的突破性进展,先前的原发性心肌病定义以及诊断路径已不能满足临床需求。新时代下,具有条件的大型医学中心应采用新的临床诊断路径,其内容涵盖高分辨影像与遗传学分析,可为原发性心肌病提供更为充分的影像与精准医学信息,并为后续的影像组学分析、基因治疗、靶向药物研发、遗传学咨询等创造条件。
Primary cardiomyopathies were previously defined as primary myocardial disorders of unknown causes,in which the secondary effect of ischemia,hypertension,diabetes,and hyperthyroidism,etc. was excluded. The clinical diagnostic pathway was limited to describing the structural and functional abnormalities,such as dilatation,hypertrophy,restrictive cardiomyopathies,and systolic or diastolic heart failure. With the progression of diagnostic techniques,especially of high-resolution imaging and molecular precision medicine,the previous definition and pathway cannot satisfy clinical demands. Accordingly,large medical centers with sufficient equipment should adopt a new clinical diagnostic pathway including high-resolution imaging and genetic analysis in the new era,which would supply more precise information of cardiac images and particular genetic abnormalities. This new pathway will greatly help the radiomics analysis,gene therapy,the development of targeted drugs,and genetic counseling for patients with cardiomyopathies.
关键词(KeyWords):
原发性心肌病;临床路径;高分辨影像;精准医学
primary cardiomyopathy;clinical pathway;high-resolution imaging;precision medicine
基金项目(Foundation): 国家重点研发计划资助项目(2016YFC0901500、2016YFC0905102);; 中国医学科学院医学与健康科技创新工程项目(2017-I2M-2-002)
作者(Author):
吴炜;王怡宁;代静文;金征宇;张抒扬;
WU Wei;WANG Yi-ning;DAI Jing-wen;JIN Zheng-yu;ZHANG Shu-yang;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Center for Rare Diseases Research,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;
Email:
DOI:
参考文献(References):
- [1]Elliott P,Anderson R,Arbustini E,et al.Classification of the cardiomyopathies:a position statement from the european society of cardiology working group on myocardial and pericardial diseases[J].Eur Heart J,2008,29:270-276.
- [2]Arbustini E,Narula N,Tavazzi L,et al.The MOGE(S)classification of cardiomyopathy for clinicians[J].J Am Coll Cardiol,2014,64:304-318.
- [3]Marchesini M,Uguccioni L,Parisi R,et al.The role of cardiac magnetic resonance imaging in hypertrophic cardiomyopathy[J].Rev Cardiovasc Med,2016,17:57-64.
- [4]Kwon DH,Setser RM,Popovic'ZB,et al.Association of myocardial fibrosis,electrocardiography and ventricular tachyarrhythmia in hypertrophic cardiomyopathy:a delayed contrast enhanced MRI study[J].Int J Cardiovasc Imaging,2008,24:617-625.
- [5]Hinojar R,Varma N,Child N,et al.T1 mapping in discrimination of hypertrophic phenotypes:hypertensive heart disease and hypertrophic cardiomyopathy:findings from the international T1 multicenter cardiovascular magnetic resonance study[J].Circ Cardiovasc Imaging,2015,8:pii:e003285.
- [6]Sado DM,White SK,Piechnik SK,et al.Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping[J].Circ Cardiovasc Imaging,2013,6:392-398.
- [7]Moon JC,Sachdev B,Elkington AG,et al.Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease.Evidence for a disease specific abnormality of the myocardial interstitium[J].Eur Heart J,2003,24:2151-2155.
- [8]Maceira AM,Joshi J,Prasad SK,et al.Cardiovascular magnetic resonance in cardiac amyloidosis[J].Circulation,2005,111:186-193.
- [9]Ellims AH,Iles LM,Ling LH,et al.A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging:linking genotype with fibrotic phenotype[J].Eur Heart J Cardiovasc Imaging,2014,15:1108-1116.
- [10]Gillies RJ,Kinahan PE,Hricak H.Radiomics:images are more than pictures,they are data[J].Radiology,2016,278:563-577.
- [11]Sengupta PP,Huang YM,Bansal M,et al.Cognitive machine-learning algorithm for cardiac imaging:A pilot study for differentiating constrictive pericarditis from restrictive cardiomyopathy[J].Circ Cardiovasc Imaging,2016,9:pii:e004330.
- [12]Baessler B,Luecke C,Lurz J.Cardiac MRI texture analysis of T1 and T2 maps in patients with infarctlike acute myocarditis[J].Radiology,2018,289:357-365.
- [13]Teekakirikul P,Kelly MA,Rehm HL,et al.Inherited cardiomyopathies:molecular genetics and clinical genetic testing in the postgenomic era[J].J Mol Diagn,2013,15:158-170.
- [14]Worman HJ,Bonne G.“Laminopathies”:A wide spectrum of human diseases[J].Exper Cell Res,2007,313:2121-2133.
- [15]Berne P,Brugada J.Brugada syndrome 2012[J].Circ J,2012,76:1563-1571.
- [16]Millat G,Chanavat V,Rousson R.Evaluation of a new NGSmethod based on a custom Ampli Seq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies[J].Clin Chim Acta,2014,433:266-271.
- [17]Loman NJ,Misra RV,Dallman TJ,et al.Performance comparison of benchtop high throughput sequencing platforms[J].Nat Biotechnol,2012,30:434-439.
- [18]Zhao Y,Feng Y,Zhang YM,et al.Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy[J].Int J Mol Med,2015,36:1479-1486.
- [19]Bottillo I,D'Angelantonio D,Caputo V,et al.Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy[J].Gene,2016,577:227-235.
- [20]Lu C,Wu W,Liu F,et al.Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies[J].J Transl Med,2018,16:241.
- [21]Wu W,Lu CX,Wang YN,et al.Novel phenotype-genotype correlations of restrictive cardiomyopathy with myosin-binding protein C(MYBPC3)gene mutations tested by next-generation sequencing[J].J Am Heart Assoc,2015,4:e001879
- [22]Ruan YP,Lu CX,Zhao XY,et al.Restrictive Card-iomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family[J].Chin Med Sci J,2016,31:1-7.
- [23]徐昊鹏,朱翀,弓孟春,等.中国罕见病研究的现状与未来[J].协和医学杂志,2018,9:5-9.
- 吴炜
- 王怡宁
- 代静文
- 金征宇
- 张抒扬
WU Wei- WANG Yi-ning
- DAI Jing-wen
- JIN Zheng-yu
- ZHANG Shu-yang
- Department of Cardiology
- Peking Union Medical College Hospital
- Chinese Academy of Medical Sciences & Peking Union Medical College
- Department of Radiology
- Peking Union Medical College Hospital
- Chinese Academy of Medical Sciences & Peking Union Medical College
- Center for Rare Diseases Research
- Peking Union Medical College Hospital
- Chinese Academy of Medical Sciences & Peking Union Medical College
- 吴炜
- 王怡宁
- 代静文
- 金征宇
- 张抒扬
WU Wei- WANG Yi-ning
- DAI Jing-wen
- JIN Zheng-yu
- ZHANG Shu-yang
- Department of Cardiology
- Peking Union Medical College Hospital
- Chinese Academy of Medical Sciences & Peking Union Medical College
- Department of Radiology
- Peking Union Medical College Hospital
- Chinese Academy of Medical Sciences & Peking Union Medical College
- Center for Rare Diseases Research
- Peking Union Medical College Hospital
- Chinese Academy of Medical Sciences & Peking Union Medical College