轻链型心肌淀粉样变性患者的临床特征及预后相关因素

目的 探讨轻链型心肌淀粉样变性（AL-CA）患者的临床特征、治疗反应、以及对预后有影响的危险因素。方法 分析2016年9月～2021年9月曾于我院住院治疗的65例AL-CA患者的临床资料。依据治疗方案的不同,将使用硼替佐米联合地塞米松（BD）方案的患者记为BD组（n=38）,将使用环磷酰胺、沙利度胺联合地塞米松方案或马法兰联合地塞米松方案的患者记为非BD组（n=27）。收集患者入院时的症状、体征、相关检查检验结果与化疗方案等信息,比较采取不同化疗方案下患者的治疗反应与生存状况,采用COX风险比例模型寻找预测患者生存的独立危险因素。结果 与非BD组相比,BD组Mayo 2012 IV期患者比例较高,血清游离轻链差值较高（P<0.01）。两组患者心电图检查主要表现均为导联低电压,超声心动图检查主要表现均为舒张功能障碍以及室间隔或左室壁增厚,无组间统计学差异。在3个月时,BD组与非BD组可评估血液学反应的分别有24例与17例患者,取得非常好的部分血液学缓解及以上血液学反应的患者分别占71%与35%(P<0.05)。通过COX风险比例模型,发现碱性磷酸酶、D-二聚体、血肌酐、N端脑...     

心肌淀粉样变性临床特点及远期预后的影响因素

目的探讨心肌淀粉样变性患者的临床特点及其远期预后的影响因素。方法回顾性分析119例临床确诊心肌淀粉样变性患者的临床资料,电话随访患者的生存状态,分析患者的临床表现、心电图、心脏超声及心脏磁共振特点及其与远期预后的关系,主要观测终点为全因死亡。应用SPSS 17.0统计软件进行数据分析。结果 119例患者首发症状多样,以气短喘憋和胸闷为主,其次为下肢水肿和乏力,心功能多为美国纽约心脏病学会心功能分级Ⅲ～Ⅳ级。患者1年生存率50%,5年生存率仅为25%,全因死亡率的独立影响因素包括脑利钠肽前体(NT-proBNP)、肌钙蛋白T、糖抗原125(CA125)、白蛋白、血氯、免疫球蛋白M水平。结论心肌淀粉样变性患者预后差,1年生存率仅为50%。患者全因死亡率的独立影响因素包括NT-proBNP、肌钙蛋白T、CA125、白蛋白、血氯、免疫球蛋白M水平。     

轻链型心肌淀粉样变性病人的临床特征及预后相关因素分析

目的研究轻链型心肌淀粉样变性(AL-CA)病人临床特征及预后的相关因素、早期诊断及治疗,从而改善预后,延长生存时间。方法回顾性分析江苏省人民医院84例诊断为轻链型心肌淀粉样变性病人临床资料,采用Cox回归模型分析影响预后的危险因素。结果共纳入病人84例,其中男55例,女29例,男女比例为1.9∶1;年龄(59.98±7.50)岁。化疗组51例,死亡25例;非化疗组33例,死亡27例。使用Kaplan-Meier方法分析化疗对病人生存情况的影响,化疗组较非化疗组生存时间长(中位生存时间分别为38个月与5个月,P<0.001)。对53例行血清游离轻链(sFLC)检测的病人以血清游离轻链差值(dFLC)中位数189.98 mg/L为界点,分为高dFLC组和低dFLC组,高dFLC组舒张早期二尖瓣血流速度与舒张晚期二尖瓣血流速度比值(E/A)>2的病人比例高于低dFLC组(19.2%与55.6%,P<0.01);Cox单因素分析提示dFLC≥189.98 mg/L、心功能分级≥Ⅲ级、E/A>2、心律失常、低血压为影响生存的危险因素,但采用Cox风险比例模型进行多变量分析时,仅E/A>2、低血压是影响病人生存的危险因素。结论心肌淀粉样变性病人临床表现缺乏特异性,预后差,早期诊断至关重要。     

多发性骨髓瘤合并轻链型淀粉样变性患者的临床特征及预后分析

目的：分析多发性骨髓瘤合并轻链型(AL型)淀粉样变性患者的临床特征、治疗和预后。方法：回顾性分析2009年7月至2022年12月在东部战区总医院国家肾脏疾病临床医学研究中心确诊的多发性骨髓瘤合并AL型淀粉样变性患者的临床资料、治疗反应及预后特征。结果：71例患者中主要以水肿(84.5%)起病,以IgG型M蛋白最常见,中位浆细胞比例15%。70例(98.6%)患者累及肾脏,41例(57.7%)累及心脏。本组患者主要接受含硼替佐米(32.4%)或沙利度胺(25.4%)的方案治疗,可评估患者总体血液学缓解率为75.0%,其中完全缓解率为8.3%,非常好的部分缓解率为38.9%,部分缓解率为27.8%;仅1例(6.7%)患者取得心脏缓解,15例(41.7%)患者取得肾脏缓解。中位随访时间为16(1.0～120.0)月,中位生存时间为34月,6月、1年、2年和4年的累积生存率分别为83.6%、75.2%、62.2%和43.0%。年龄、浆细胞比例和氨基末端脑钠肽前体水平与患者预后独立相关。结论：多发性骨髓瘤合并AL型淀粉样变性患者总体预后不佳。抗浆细胞治疗有效,但器官缓解率较低,年龄、心脏受累严重...     

心肌淀粉样变性预后影响因素分析

  目的 分析心肌淀粉样变性患者临床表现、诊断治疗及预后情况。方法 回顾性分析1995—2005年18例经心内膜心肌活检（EMB）确诊为心肌淀粉样变性患者的临床特征及预后情况。结果 18例心肌淀粉样变性患者均存在心脏舒张功能下降,其中12例二尖瓣舒张早期血流峰速度/舒张晚期血流峰速度（E/A）>2.0,且心室舒张早期充盈减速时间（DT）<150 ms;12例存在心脏收缩功能受损,左室射血分数（LVEF）<50%,13例纽约心脏病学会心功能分级（NYHA）Ⅲ、Ⅳ级。18例心肌淀粉样变性患者1、2和5年生存率分别为67%、44%和17%。 Kaplan-Meier分析显示NYHA>Ⅱ级、E/A>2.0且心室舒张早期充盈减速时间（DT）<150 ms与病死率增加相关（log-rank P=0.026和 0.001）。心力衰竭前接受化疗者有生存期延长趋势。结论 随着发病时间延长,患者生存率逐渐下降,病死率上升。NYHA>Ⅱ级、E/A>2.0且DT<150 ms与病死率增加相关。        

心脏磁共振心肌收缩分数评估老年心肌淀粉样变性患者预后的价值

目的 探讨心脏磁共振心肌收缩分数(MCF)评估老年心肌淀粉样变性患者预后的价值。方法 回顾性分析在我院确诊的老年心肌淀粉样变性患者54例,所有患者均进行心脏磁共振检查,根据患者临床结局分为存活组25例和死亡组29例。评估患者MCF与心脏磁共振参数及生化指标的相关性,Cox回归分析影响患者生存的独立预测因素,生存分析评价MCF预测患者预后的价值。结果 存活组MCF显著高于死亡组[(70.63±24.72)%vs(43.59±13.36)%,P=0.001]。随着MCF增加,LVEF水平呈上升趋势,左心室质量指数、舒张期最大左心室壁厚度、细胞外间质容积分数、肌钙蛋白T、N末端B型钠尿肽前体水平呈下降趋势。多因素Cox回归分析显示,MCF是影响患者生存的独立危险因素(HR=0.922,95%CI:0.866～0.981,P=0.011)。Kaplan-Meier曲线显示,MCF>57%的患者存活率显著高于MCF≤57%的患者(P<0.01)。结论 MCF是评估老年心肌淀粉样变性患者预后的有效影像学指标,可为识别高危患者及指导临床治疗提供帮助。     

12例心肌淀粉样变性的临床特点和误诊分析

目的:分析心肌淀粉样变性患者临床特点及误诊原因。方法:对12例心肌淀粉样变性患者的临床资料进行回顾性分析。结果:①误诊率高,首诊误诊率为91.7%。最常误诊为肥厚型心肌病(33.3%),其次为冠心病(25%);②心肌淀粉样变性常联合肾脏和肝功能损害;③超声心动图显示心肌颗粒样闪光回声增强者占41.7%,室间隔增厚和房间隔增厚的检出率分别为83.3%和33.3%;④心电图改变以肢体导联低电压和胸前导联R波递增不良最为常见。结论:心肌淀粉样变性常联合多脏器损害,有超声心动图和心电图的特征性改变。首诊误诊率很高,需对此病提高认识。     

心肌淀粉样变性的临床特点

目的　心肌淀粉样变性 ( cardiac amyloidosis CAL)是临床上相对少见的疾病 ,对其临床特点认识不足。本文分析CAL患者的临床特征 ,为正确诊断疾病奠定基础。方法　对近 2年来确诊为 CAL患者的临床、心电图、超声心动图和病理学特点进行了分析。结果　 3例患者确诊为 CAL。患者为老年 ( x=70岁 ) ,临床表现为肾病综合征 ( 3例 )和充血性心力衰竭 ( 2例 )。心电图显示肢体导联低电压 ( 3例 ) ,胸前、肢体导联异常 Q波 ( 3例 )。心肌电压和心肌团块比值下降。超声心动图显示左心室后壁和室间隔增厚 ( 3例 ) ;左心室舒张内径减小 ( 2例 ) ;左心房增大 ( 3例 ) ;E/ A比值倒置 ;心内膜闪耀的颗粒样物质 ( 1例 ) ;心包积液 ( 2例 ) ;左心室收缩功能正常 ( 3例 )。肾脏病理显示基底膜、小动脉大量微细纤维淀粉样物质沉积。结论　老年充血性心力衰竭、心脏舒张功能受损同时合并肾病综合征等提示 CAL的可能。当心脏外病理确诊为淀粉样变性后 ,心电图和超声心动图的特异改变可帮助确诊 CAL     

心肌淀粉样变性

<正>心肌淀粉样变性(CA)是由于原发性或继发性因素致使淀粉样物质沉积于心肌组织,从而引起心脏舒缩功能和(或)传导系统障碍,具有典型限制性心肌病临床表现的一组疾病。所谓的淀粉样物质是前体蛋白以异常的β折叠形式沉积在细胞外的某种自体蛋白纤维,经过刚果红染色在偏振光显微镜下,呈现苹果绿双折射,在电镜观察下,可见直径7.5~10.0 nm无分     

心肌淀粉样变性两例报道并文献复习

心肌淀粉样变性（CA）指蛋白质出现错误折叠后沉积于心脏，引起以心脏舒张功能障碍为主的特异性限制性心肌病，常可导致难治性心力衰竭或其他脏器衰竭甚至死亡。CA临床表现多样，因而其早期诊断仍较困难。本文报道的2例CA患者均以胸闷、呼吸困难等非特异性症状就诊，根据患者临床症状、二维斑点追踪成像检查结果、脂肪组织病理检查结果诊断为CA，后予以利尿、营养心肌、抗凝、维持电解质等对症治疗，患者症状好转。本文同时通过文献复习分析了CA的发病机制、分型、临床表现、诊断、治疗及预后，以期为临床诊治CA提供参考。     

Persistent Troponin Elevation in a Patient with Cardiac Amyloidosis

A 79‐year‐old patient repeatedly presented with chest discomfort and dyspnea on exertion. With echocardiography a prominent left ventricular and septal hypertrophy was detected with reduced left ventricular function. Despite successful revascularization and excellent results after stenting, the patient showed persistently elevated troponin levels. To investigate the abnormal findings of persistent troponin elevation, septal hypertrophy, and heart failure we performed endomyocardial biopsies which showed widespread myocardial amyloidosis. Amyloid subtyping revealed transthyretin amyloidosis. This is the first case showing persistent troponin elevation in a patient with tranthyretin amyloidosis. Very few other cases have been published on the topic of cardiac amyloidosis and troponin elevation so far. Our case serves as an illustrating example in the differential diagnosis of nonischemic causes of persistent troponin elevation. It is important to consider cardiac amyloidosis in patients with troponin elevation and heart failure since the clinical management differs significantly from other causes of heart failure. Copyright © 2009 Wiley Periodicals, Inc.     

Cardiac Amyloidosis

ABSTRACT. Two male patients with primary cardiac amyloidosis are described. Patient 1 presented with typical effort angina pectoris with no ischemic electrocardiographic changes and a normal coronary angiogram. At necropsy, a severe diffuse, intravascular amyloid deposition was observed in the intramural coronary arteries. In patient 2 the presenting symptom was congestive heart failure with echocardiographic evidence of asymmetric septal hypertrophy and pericardial effusion. Technetium-99m pyrophosphate scintigraphy showed diffuse myocardial uptake, and the diagnosis of cardiac amyloidosis was confirmed in the postmortem examination. The diagnostic and therapeutic problems associated with cardiac amyloidosis are discussed in the light of these case reports.     

An Unusual Case of Cardiac Amyloidosis

Cardiac amyloidosis can result from any of the systemic amyloidoses. The disease is often characterized by a restrictive cardiomyopathy although the particular signs and symptoms depend in part on the underlying cause. In addition to managing the symptoms of heart failure, treatment options vary depending on the etiology of amyloid deposition. It is therefore critical to identify the cause of cardiac amyloidosis before initiating definitive therapy. We present a patient with presumed immunoglobulin (AL) amyloidosis who had a circulating lambda monoclonal protein, but a bone marrow biopsy with kappa predominant plasma cells. This unusual finding called into question the diagnosis of AL amyloidosis and highlights the importance and difficulty of determining the cause of cardiac amyloid deposition before initiating treatment. We review the different forms of cardiac amyloidosis and propose a diagnostic algorithm to help identify the etiology of cardiac amyloid deposition before beginning therapy.     

Future Directions in Cardiac Amyloidosis

Just a few years ago, cardiac amyloidosis (CA) was rarely diagnosed. With poor treatment options and delayed and infrequent diagnoses, most patients who were eventually recognized to have CA were referred for hospice care. Now, the availability of sponsored genetic testing, increased use of nuclear scintigraphy, and widespread recognition have contributed to an increasing number of patients being diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM). Concomitantly, with the increased recognition of concurrent conditions (eg, carpal tunnel syndrome, lumbar stenosis, and low-flow, low-gradient aortic stenosis), specialists such as orthopedic surgeons and structural cardiologists are increasingly involved in diagnosing ATTR-CM.Although the majority of patients are still being diagnosed either too late or having their diagnosis missed altogether, we have entered an exciting new era in the treatment of cardiac amyloidosis with improved diagnostic tools, disease recognition, and different therapeutic options for both ATTR and light-chain amyloidosis (AL). As a result, survival is improving, and we are no longer faced with a dualistic choice between hospice or organ transplant. The future goal is to develop anti-fibril therapies that will be safe and effective at removing deposited amyloid fibrils and restoring organs to their pre-amyloid state. For the millions of carriers of variant ATTR, enhanced testing followed by genetic editing may allow a cure even before patients develop clinical signs of the disease.     

Clinical Experience With the Use of Doxycycline and Ursodeoxycholic Acid for the Treatment of Transthyretin Cardiac Amyloidosis

Background

The tolerability and utility of combination doxycycline and ursodeoxycholic acid (ursodiol) amyloid fibril disruption therapy for transthyretin cardiac amyloidosis (ATTR CA) in clinical practice is poorly described.