| 405 | 0 | 8 |
| 下载次数 | 被引频次 | 阅读次数 |
心肌淀粉样变性是因为错误折叠蛋白质片段沉积于心肌细胞外基质所致的一类疾病,淀粉样蛋白质可来源于单克隆免疫球蛋白轻链、运载甲状腺素蛋白(TTR)等,患者可表现为心瓣膜病、心肌病、心衰及各种心律失常等症状。目前已有多种无创诊断手段,但心肌活检仍然是诊断心脏淀粉样变性的唯一金标准。过去的治疗重点在于改善患者心衰、心律失常症状,如今,先进的化疗方案、免疫治疗手段、干细胞移植以及调控基因表达等已兴起。综述了近年来心肌淀粉样变诊断、治疗研究的新进展。
Abstract：Cardiac amyloidosis is a kind of disease which results from deposition misfolded protein frag-ments on myocardial extracellular matrix. These protein may derive from monoclonal immunoglobulin,transthyretin(TTR), etc. The manifestations of patients with cardiac amyloidosis may perform as valvu-lopathy, cardiomyopathy, heart failure and various kinds of arrhythmia etc. In spite of multitudinous non-invasive diagnostic methods, myocardial biopsy remains the gold standard in the diagnosis of cardiac am-yloidosis. Actually, the previous treatments focus on improving the symptoms of heart failure and arrhyth-mia, at present, advanced chemotherapy regimens, immune therapy, stem cell transplantation, regulationof gene expression and more progressive methods are rising up. This paper describes the new researchprogress of diagnosis, treatment of myocardial amyloidosis.
[1]SIPE J D,COHEN A S.Review:history of the amyloid fibril[J].J Struct Biol,2000,130(2/3):88-98.
[2]FALK R H,ALEXANDER K M,LIAO R,et al.AL(light-chain)cardiac amyloidosis:a review of diagnosis and therapy[J].J Am Coll Cardiol,2016,68(12):1323-1341.
[3]RUBERG F L,BERK J L.Transthyretin(TTR)cardiac amyloidosis[J].Circulation,2012,126(10):1286-1300.
[4]MURTAGH B,HAMMILL S C,GERTZ M A,et al.Electrocardiographic findings in primary systemic amyloidosis and biopsyproven cardiac involvement[J].Am J Cardiol,2005,95(4):535-537.
[5]HUANG J,ZHAO S,CHEN Z,et al.Contribution of electrocardiogram in the differentiation of cardiac amyloidosis and nonobstructive hypertrophic cardiomyopathy[J].Int Heart J,2015,56(5):522-526.
[6]PICANO E,PINAMONTI B,FERDEGHINI E M,et al.Two-dimensional echocardiography in myocardial amyloidosis[J].Echocardiography,1991,8(2):253-259.
[7]PIPER C,BUTZ T,FARR M,et al.How to diagnose cardiac amyloidosis early:impact of ECG,tissue Doppler echocardiography,and myocardial biopsy[J].Amyloid,2010,17(1):1-9.
[8]BUSS S J,EMAMI M,MERELES D,et al.Longitudinal left ventricular function for prediction of survival in systemic lightchain amyloidosis:incremental value compared with clinical and biochemical markers[J].J Am Coll Cardiol,2012,60(12):1067-1076.
[9]BARROS-GOMES S,WILLIAMS B,NHOLA L F,et al.Prognosis of light chain amyloidosis with preserved LVEF:added value of 2D speckle-tracking echocardiography to the current prognostic staging system[J].JACC Cardiovasc Imaging,2017,10(4):398-407.
[10]SALINARO F,MEIER-EWERT H K,MILLER E J,et al.Longitudinal systolic strain,cardiac function improvement,and survival following treatment of light-chain(AL)cardiac amyloidosis[J].Eur Heart J Cardiovasc Imaging,2017,18(9):1057-1064.
[11]PAGOURELIAS ED,DUCHENNE J,MIREA O,et al.The relation of ejection fraction and global longitudinal strain in amyloidosis:implications for differential diagnosis[J].JACC Cardiovasc Imaging,2016,9(11):1358-1359.
[12]CHENG Z,KANG L,TIAN Z,et al.Utility of combined indexes of electrocardiography and echocardiography in the diagnosis of biopsy proven primary cardiac amyloidosis[J].Ann Noninvasive Electrocardiol,2011,16(1):25-29.
[13]伍崇海,黄桢钧,徐丽敏,等.国人心肌淀粉样变性meta分析[J].临床心血管病杂志,2014(7):622-625.
[14]关莹,郑恩海,赵妍妍,等.超声心动图对心肌淀粉样变性的诊断价值[J].中国现代医学杂志,2013,23(8):93-95.
[15]SYED I S,GLOCKNER J F,FENG D,et al.Role of cardiac magnetic resonance imaging in the detection of cardiac amyloidosis[J].JACC Cardiovasc Imaging,2010,3(2):155-164.
[16]BHATTI S,WATTS E,SYED F,et al.Clinical and prognostic utility of cardiovascular magnetic resonance imaging in myeloma patients with suspected cardiac amyloidosis[J].Eur Heart J Cardiovasc Imaging,2016,17(9):970-977.
[17]MACEIRA A M,JOSHI J,PRASAD S K,et al.Cardiovascular magnetic resonance in cardiac amyloidosis[J].Circulation,2005,111(2):186-193.
[18]FONTANA M,PICA S,REANT P,et al.Prognostic value of late gadolinium enhancement cardiovascular magnetic resonance in cardiac amyloidosis[J].Circulation,2015,132(16):1570-1579.
[19]MONGEON F P,JEROSCH-HEROLD M,COELHO-FILHO O R,et al.Quantification of extracellular matrix expansion by CMR in infiltrative heart disease[J].JACC Cardiovasc Imaging,2012,5(9):897-907.
[20]KARAMITSOS T D,PIECHNIK S K,BANYPERSAD S M,et al.Non-contrast T1 mapping for the diagnosis of cardiac amyloidosis[J].JACC Cardiovascular Imaging,2013,6(4):488-497.
[21]FONTANA M,BANYPERSAD S M,TREIBEL T A,et al.Native T1 mapping in transthyretin amyloidosis[J].JACC Cardiovascular Imaging,2014,7(2):157-165.
[22]CHENG Z P,LU M J,YIN G,et al.Native T1 mapping for the diagnosis of cardiac amyloidosis:a pilot research[J].Chin J Radiol,2016,50(12):935-939.
[23]ZHANG L,TANG H,CHEN L H,et al.Analysis of cinical and imaging features of cardiac amyloidosis:a multicenter study[J].J South Med Univ,2014,34(3):295-302.
[24]FERREIRA V M,PIECHNIK S K,ROBSON M D,et al.Myocardial tissue characterization by magnetic resonance imaging:novel applications of T1 and T2 MAPPING[J].Thorac Imaging,2014,29(3):147-154.
[25]FONTANA M,BANYPERSAD S M,TREIBEL T A,et al.Differential myocyte responses in patients with cardiac transthyretin amyloidosis and light chain amyloidosis:a cardiac MR imaging study[J].Radiology,2015,277(2):388-397.
[26]GILLMORE J D,MAURER M S,FALK R H,et al.Nonbiopsy diagnosis of cardiac transthyretin amyloidosis[J].Circulation,2016,133(24):2404-2412.
[27]CASTANO A,HAQ M,NAROTSKY D L,et al.Multicenter study of planar technetium 99m pyrophosphate cardiac imaging:predicting survival for patients with attr cardiac amyloidosis[J].JAMA Cardiol,2016,1(8):880-889.
[28]DORBALA S,VANGALA D,SEMER J,et al.Imaging cardiac amyloidosis:a pilot study using(1)(8)F-florbetapir positron emission tomography[J].Eur J Nucl Med Mol Imaging,2014,41(9):1652-1662.
[29]LEE S P,LEE E S,CHOI H,et al.11C-Pittsburgh B PET imaging in cardiac amyloidosis[J].JACC Cardiovasc Imaging,2015,8(1):50-59.
[30]GERTZ MA,LI C Y,SHIRAHAMA T,et al.Utility of subcutaneous fat aspiration for the diagnosis of systemic amyloidosis(immunoglobulin light chain)[J].Arch Intern Med,1988,148(4):929-933.
[31]LIBBEY C A,SKINNER M,COHEN A S.Use of abdominal fat tissue aspirate in the diagnosis of systemic amyloidosis[J].Arch Intern Med,1983,143(8):1549-1552.
[32]SIDDIQI O K,RUBERG F L.Challenging the myths of cardiac amyloidosis[J].Eur Heart J,2017,38(24):1909-1912.
[33]MIKHAEL J R,SCHUSTER S R,JIMENEZ-ZEPEDA V H,et al.Cyclophosphamide-bortezomib-dexamethasone(Cy Bor D)produces rapid and complete hematologic response in patients with AL amyloidosis[J].Blood,2012,119(19):4391-4394.
[34]SPERRY B W,IKRAM A,HACHAMOVITCH R,et al.Efficacy of chemotherapy for light-chain amyloidosis in patients presenting with symptomatic heart failure[J].J Am Coll Cardiol,2016,67(25):2941-2948.
[35]D′SOUZA A,DISPENZIERI A,WIRK B,et al.Improved outcomes after autologous hematopoietic cell transplantation for light chain amyloidosis:a center for international blood and marrow transplant research study[J].Clin Oncol,2015,33(32):3741-3749.
[36]GERTZ M A,LANDAU H,COMENZO R L,et al.First-in-human phase I∕II study of neod001 in patients with light chain amyloidosis and persistent organ dysfunction[J].Clin Oncol,2016,34(10):1097-1103.
[37]EDWARDS C V,GOULD J,LANGER A L,et al.Interim analysis of the phase 1a/b study of chimeric fibril-reactive mono clonal antibody 11-1F4 in patients with AL amyloidosis[J].Amyloid,2017,24(supp1):58-59.
[38]RICHARDS D B,COOKSON L M,BERGES A C,et al.Therapeutic clearance of amyloid by antibodies to serum amyloid p component[J].N Engl J Med,2015,373(12):1106-1114.
[39]DUBREY S W,BURKE M M,KHAGHANI A,et al.Long term results of heart transplantation in patients with amyloid heart disease[J].Heart,2001,85(2):202-207.
[40]DEY B R,CHUNG S S,SPITZER T R,et al.Cardiac transplantation followed by dose-intensive melphalan and autologous stem-cell transplantation for light chain amyloidosis and heart failure[J].Transplantation,2010,90(8):905-911.
[41]GRAY GILSTRAP L,NIEHAUS E,MALHOTRA R,et al.Predictors of survival to orthotopic heart transplant in patients with light chain amyloidosis[J].J Heart Lung Transplant,2014,33(2):149-156.
[42]SATTIANAYAGAM P T,GIBBS S D,PINNEY J H,et al.Solid organ transplantation in AL amyloidosis[J].Am J Transplant,2010,10(9):2124-2131.
[43]MEHRA M R,CANTER C E,HANNAN M M,et al.The 2016 International Society for Heart Lung Transplantation listing criteria for heart transplantation:a 10-year update[J].Heart Lung Transplant,2016,35(1):1-23.
[44]HOLMGREN G,ERICZON B G,GROTH C G,et al.Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis[J].Lancet,1993,341(8853):1113-1116.
[45]SUHR O B,HERLENIUS G,FRIMAN S,et al.Liver transplantation for hereditary transthyretin amyloidosis[J].Liver Transpl,2000,6(3):263-276.
[46]BERK J L,SUHR O B,OBICI L,et al.Repurposing diflunisal for familial amyloid polyneuropathy:a randomized clinical trial[J].JAMA,2013,310(24):2658-2667.
[47]MERLINI G,PLANTE-BORDENEUVE V,JUDGE D P,et al.Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis[J].Cardiovasc Transl Res,2013,6(6):1011-1020.
[48]SUHR O B,COELHO T,BUADES J,et al.Efficacy and safety of patisiran for familial amyloidotic polyneuropathy:a phase II multi-dose study[J].Orphanet J Rare Dis,2015,10:109.
[49]HAWKINS P N,ANDO Y,DISPENZERI A,et al.Evolving landscape in the management of transthyretin amyloidosis[J].Ann Med,2015,47(8):625-638.
[50]ACKERMANN E J,GUO S,BOOTEN S,et al.Clinical development of an antisense therapy for the treatment of transthyretinassociated polyneuropathy[J].Amyloid,2012,19(Suppl 1):43-44.
[51]CARDOSO I,SARAIVA M J.Doxycycline disrupts transthyretin amyloid:evidence from studies in a FAP transgenic mice model[J].FASEB J,2006,20(2):234-239.
[52]MACEDO B,BATISTA A R,FERREIRA N,et al.Anti-apoptotic treatment reduces transthyretin deposition in a transgenic mouse model of Familial Amyloidotic Polyneuropathy[J].Biochim Biophys Acta,2008,1782(9):517-522.
[53]CARDOSO I,MARTINS D,RIBEIRO T,et al.Synergy of combined doxycycline/TUDCA treatment in lowering transthyretin deposition and associated biomarkers:studies in FAP mouse models[J].Transl Med,2010,8:74.
[54]FERREIRA N,SARAIVA M J,ALMEIDA M R.Natural polyphenols inhibit different steps of the process of transthyretin(TTR)amyloid fibril formation[J].FEBS Lett,2011,585(15):2424-2430.
基本信息:
DOI：10.16389/j.cnki.cn42-1737/n.2018.02.010
中图分类号:R542.2
引用信息:
[1]沈燕玲,苏文,田立群.心肌淀粉样变性临床诊治新进展[J].江汉大学学报(自然科学版),2018,46(02):167-175.DOI:10.16389/j.cnki.cn42-1737/n.2018.02.010.
基金信息: