心脏淀粉样变性的临床及影像特征:多中心病例分析

Analysis of clinical and imaging features of cardiac amyloidosis: a multicenter study

目的：总结心脏淀粉样变性（CA）患者的临床表现、实验室数据和影像特征，为临床医生早期识别和诊断CA提供帮助。方法自2012年5月-2013年11月来自全国4个中心确诊的CA患者共60例，收集其人口学资料、病史及家族史、临床表现及体征、实验室数据、心电图、心脏超声及心脏核磁影像，统一进行分析和总结。结果（1）CA患者来自于全国12个省、自治区或直辖市，汉族及蒙、回、鲜、维吾尔族均可发病，以中老年男性常见，AL型约占47%；（2）以憋气（73%）及下肢浮肿（47%）伴有血压偏低（47%）和舌体肥大（22%）为常见表现，可以合并蛋白尿（53%）及肝肾功能异常（15%、28%），血常规、血尿免疫球蛋白定量及免疫固定电泳可以帮助筛查AL型CA；（3）肾脏（53%）、肝脏（15%）是常见的心外受累器官，而AL型CA肾脏受累更多见（86%）；（4）心电图的特征性表现包括：肢体导联低电压（33%）、R波递增不良（35%）以及假性心肌梗死Q波形成（30%），而AL型CA肢体导联低电压和假性心肌梗死Q波更为常见（分别占50%和54%），可以合并心律失常；6心脏超声的典型特征包括：左室明显肥厚（100%）、左房扩大（87%）以及心肌内颗粒样回声（92%），无论收缩功能正常或减低均存在舒张功能明显减退，DT时间和二尖瓣环附着处E/e＆#39;比值可以作为疾病早期舒张功能减退的评价指标；（6）心脏核磁延迟强化显示整个左心室心内膜下延迟强化（81%）且伴有右室及心房受累（50%）是CA的特征性改变，AL型CA右心室及双房延迟强化更广泛，心脏核磁能够帮助确诊和评估淀粉样物质在心肌内部浸润的程度；（7）本研究中97%CA患者出现NT-proBNP升高，53%出现TnT升高，并根据其判断本组AL型CA患者中高危占50%、中危占43%、低危占7%，提示其可以作为AL型CA患者心脏受累严重程度及预后的判断指标之一。结论CA的临床表现、实验室资料及影像特征对CA的确诊和预后评估具有重要的价值。

Objective To summarize the features of clinical manifestations, laboratory tests and imaging findings of patients with cardiac amyloidosis （CA）. Methods A total of 60 CA patients （including 41 male and 19 female patients） from 4 centers admitted between May, 2012 and November, 2013 were included in the study. The demographic data, medical history, clinical manifestations, laboratory test data, ECG, cardiac ultrasound, and cardiac magnetic resonance （CMR） imaging of the patients were analyzed. Results Two-thirds of the 60 CA patients, were middle-aged or elderly men, and 47%of the patients had AL-CA. The clinical manifestations included exertional dyspnea （73%）, pedal edema （47%）, hypotension （47%）, and hypertrophy of the tongue （22%）; abnormal laboratory test results included albuminuria （53%） and liver （15%） and kidney （28%） dysfunction; blood routine, urine and serum immunoglobulin quantification and immunofixation electrophoresis could help the screening of AL-CA. Kidney （53%） and liver （15%） involvement was common, and 86% of AL-CA patients had kidney involvement. Typical ECG characteristics included poor R wave progression （35%）, low voltage in limb leads （33%）, and a pseudo infarct Q wave （30%）;the latter two were more frequent in AL-CA. The characteristics of ultrasound findings included left ventricle thickening （100%）, left atrial enlargement （87%） and enhanced echo of the myocardial granules（92%）, and diastolic dysfunction was obvious in all the CA patients regardless of the systolic function. The DT and E/e＆#39; of the mitral annulus could be used as an index to evaluate diastolic dysfunction in early stage of the disease. Left ventricular （LV） global subendocardial late gadolinium enhancement （LGE, 81%） accompanied by right ventrivular （RV） and atrial LGE was the typical characteristic of CMR, and the range of LGE in the RV and the two atria was wider in AL-CA than in non-AL-CA. NT-proBNP （97%） and cardiac troponin （53%） in CA patients were both elevated, which helped in diagnosing and assessing the severity of cardiac involvement, according to which 50%of the patients were found to be at a high risk, 43%at an intermediate risk, and 7% at a low risk. Conclusion The combination of the features of clinical, laboratory tests and imaging findings of CA have important diagnostic and prognostic value for CA.