6例淀粉样变性心肌病临床特点分析

目的总结淀粉样变性心肌病(CA)的临床特点,为临床医师进一步认识和诊治该病提供帮助。方法对经皮下脂肪活检和肾脏穿刺活检确诊的6例CA患者的临床特征、心电图、超声心动图、实验室检查及确诊方法进行临床分析,总结CA的临床特点。结果 6例诊断为CA患者,男5例(83%),女1例(17%),年龄52~78[平均(65±10)]岁,从发病到确诊时间1~14[平均(8±5)]个月。临床表现均为进行性加重的心力衰竭;其中,伴低血压表现3例,合并多发性骨髓瘤1例。心电图示:肢体导联均为低电压表现,心房颤动2例,窦性心动过缓1例,完全性右束支阻滞2例;陈旧性心肌梗死样改变3例。心脏彩超示:所有患者均表现左心房明显增大,左心室舒张功能减退,室间隔及左室后壁明显增厚伴室壁运动弥漫性减弱。活检部位:皮下脂肪活检5例,肾穿刺活检1例,病理检查经刚果红染色均呈阳性。结论 CA患者的心脏受损的临床表现多样、缺乏特异性,误诊率高,预后差,常合并有其它多种组织级器官受累表现,有以下临床特征:(1)早期为心脏舒张功能减退;(2)限制性心肌病、右心衰竭的症状及体征,部分患者发展为难治性充血性心力衰竭;(3)难治性心律失常;(4)肺动脉高压和肺心病;(5)特征性心电图:标准肢体导联低电压、胸前导联R波递增不良ST-T改变,常伴有房颤和传导阻滞;(6)特征性超声心动图:心室壁及室间隔明显对称性增厚,左室心腔正常或者缩小,左室舒张功能减退,多伴有瓣膜增厚或反流、心包积液,晚期有充盈压增高的限制性表现。     

淀粉样变性心肌病研究进展

本文介绍淀粉样变性心肌病的定义，发病机理，病理改变，临床表明，实验室和其它检查，诊断、鉴别诊断和治疗。     

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     

心脏淀粉样变性

淀粉样变性是以不可溶性的淀粉样物质沉积于器官或组织的细胞外区,导致相应的器官或组织功能障碍为特征的一组疾病。心脏是淀粉样变性常累及的器官。心脏淀粉样变性临床上通常按其病因分为原发性、家族性、老年性、继发性及透析相关性五种类型。其最常见的临床表现为限制性心肌病和顽固性心力衰竭,有时伴有传导阻滞。心肌活检可以确定诊断,近年来随着心外组织取样和显像技术的发展已大大减少了心内膜心肌活检的必要。尽管治疗上有所改进,但心脏淀粉样变性患者预后仍然较差,主要取决于原有疾病类型。     

以心肌病为主要表现的浆细胞病1例

正患者男,63岁。因反复胸闷、气促半年余,双下肢水肿4月,再发加重1个月入院。患者于半年前活动时出现胸闷、气促不适,无胸痛、恶心、呕吐,无眩晕、晕厥,无发热、畏寒等不适,心电图提示高侧壁及前间壁异常Q波,ST-T改变,当地医院考虑为"心肌梗死",给予抗血小板、调脂、扩管等对症治疗,无好转,冠状动脉造影提示冠状动脉未见明显狭窄,心脏彩超提示:左室肥厚,右心扩大,遂考虑心肌病可能,给予利尿、扩管、强心、改善心肌重构等对症治疗后,患者胸闷、气促症状有所好转后带药出院,出院     

表现为心肾联合损害的淀粉样变性1例

正1病例资料患者,男性,64岁,农民,因"间断胸闷气短半年余,加重5 d"于2016年3月28日入住首都医科大学附属北京友谊医院医疗保健中心内科。患者半年余前无明显诱因出现活动后胸闷、气短症状,伴心悸、乏力、食欲减退、双下肢水肿、尿色深、尿中泡沫多。就诊于外院,诊断为慢性肾功能不全,给予利尿治疗后症状缓解。曾于我院门诊就诊,诊断为心功     

以巨肝为主要表现的原发性系统性淀粉样变性1例报告

正1病例资料患者女性,41岁,因"间断牙龈出血2年,嗳气、腹胀1年半,双下肢水肿2个月"于2015年9月15日收入院。患者入院2年前间断出现牙龈出血,当地查血象未见明显异常,未重视。1年半前无明显诱因出现乏力,时有嗳气,轻度腹胀,纳差,进食量减少至正常食量的1/2,消瘦。至当地医院就诊,B超检查发现肝脾肿大,HBs Ag阴性,肝功能检查提示转氨酶升     

经皮肾穿刺活检诊断淀粉样变性患者超声心动图特点及其预后分析

目的 通过分析经皮肾穿刺活检明确诊断为淀粉样变性肾病伴心脏受累患者的临床及超声心动图特点,为心肌淀粉样变性患者的早期诊断提供帮助。方法 共纳入经皮肾穿刺活检确诊的淀粉样变性肾病患者45例,收集患者行肾穿刺活检时的临床资料(年龄、性别、血压等)、超声心动图指标(室间隔厚度、左心室舒张期末内径、左心室射血分数等),对比心脏受累与未受累者指标差异及预后。结果 超声心动图指标分析显示,心脏受累组较未受累组室间隔厚度、左心室后壁厚度增加,差异具有统计学意义(P＜0.05)。心脏受累组中位生存期15月,较心脏未受累组明显下降,差异具有统计学意义(P＜0.05)。结论 经皮肾穿刺活检诊断淀粉样变性患者超声心动图提示室间隔厚度及左心室后壁厚度增加,且室间隔厚度≥10 mm,可作为判断是否合并心肌淀粉样变性的早期依据。     

心脏淀粉样变性1例

患者 ,男性 ,5 7岁。既往体健。因间断双下肢浮肿、胸闷、气促、咳嗽 3个月 ,2 0 0 2年 1月 31日入院。患者 2 0 0 1年10月中旬开始反复间断出现上述症状 ,伴肌痛 ,夜间阵发性呼吸困难 ,乏力 ,畏寒 ,自诉血压由原 12 0 90mmHg ( 1mmHg=0 133kPa)降至 80～ 90 4 0～ 6 0mmHg     

心脏淀粉样变性临床研究进展

心脏淀粉样变性通常表现为限制性的心力衰竭和多浆膜腔积液。心电图表现为肢体低电压、胸导联R波递增不良;在超声心动图上表现为双心房增大,左心室室壁厚度增加,左心室腔不大,左心室舒张功能减退,或有颗粒状心肌强回声等改变;心脏磁共振表现为特征性的心肌延迟强化;组织活检在偏振光显微镜下具有典型的苹果绿双折射和刚果红染色。现通过对心脏淀粉样变性的临床症状及相关实验室结果的讨论,旨在加强临床医师对该疾病的认识。     

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.     

Cardiac Amyloidosis Treatment

Cardiac amyloidosis (CA) is a restrictive cardiomyopathy with a traditionally poor prognosis. Until recently, CA treatment options were limited and consisted predominantly of managing symptoms and disease-related complications. However, the last decade has seen significant advances in disease-modifying therapies, increased awareness of CA, and improved diagnostic methods resulting in earlier diagnoses. In this review, we provide an overview of current and experimental treatments for the predominant types of CA: transthyretin cardiac amyloidosis (ATTR-CA) and immunoglobulin light chain (AL)-mediated CA (AL-CA).The mainstay of AL-CA treatment is proteasome inhibitor-based chemotherapy with daratumumab and, when feasible, autologous stem cell transplantation. For ATTR-CA, the stabilizer tafamidis is the only US Food and Drug Administration (FDA)-approved treatment. However, promising novel therapies on the horizon target various points in the ATTR-CA amyloidogenic cascade. These include transthyretin gene (TTR) silencing agents to prevent TTR formation, TTR tetramer stabilization and inhibition of oligomer aggregation to prevent fibril formation, anti-TTR fiber antibodies, and amyloid degradation. For end-stage CA, advanced interventions may need to be considered, including heart, heart-kidney, and, for hereditary ATTR-CA, heart-liver transplantation. Despite the evolution of treatment options, CA management remains complex due to patient frailty and therapeutic side effects or intolerance with advanced cardiac disease. This is particularly relevant for those with AL-CA, when active teamwork between the hematologist-oncologist and the cardiologist is critical for treatment success. Often, referral to an expert center is necessary for timely diagnosis, initiation of treatment, and participation in clinical trials.     

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.     

Heart Transplantation and End-Stage Cardiac Amyloidosis: A Review and Approach to Evaluation and Management

Cardiac amyloidosis is one of the most common of the infiltrative cardiomyopathies and is associated with a poor prognosis. The extent of cardiac involvement with amyloid deposition is an important determinant of treatment options and is the major determinant of outcome in patients with amyloidosis. Several small case series with sequential orthotopic heart transplantation and autologous stem cell transplant have demonstrated an improvement in post-transplant outcome and have revived enthusiasm about heart transplantation for patients with end-stage heart failure due to AL amyloidosis. The purpose of this review is to summarize the evaluation and management of cardiac amyloidosis and to provide our single-center experience with end-stage heart failure due to AL amyloidosis treated with heart transplantation followed by an autologous stem cell transplant.     

心肌淀粉样变性患者的临床特征及预后分析

目的:分析心肌淀粉样变性患者的临床特征并分析影响患者生存率的因素.方法:针对重庆市部分医院经病理检查确诊的34例心肌淀粉样变性患者进行临床特征统计分析.应用多因素Logistic回归分析寻找可能影响患者生存的因素.结果:34例确诊患者中,从出现症状到明确诊断的时间为(15.2±2.9)个月(1～72个月).初诊时,有1...