向心性心肌肥厚疾病的诊断学研究

发布时间：2019-05-28 03:28

【摘要】：研究背景：心肌肥厚疾病是一组遗传或获得相关的心肌疾病,临床分为非向心性心肌肥厚和向心性心肌肥厚两类,前者以肥厚型心肌病为代表,后者原因众多,常见原因包括高血压和主动脉瓣狭窄等。少见病因的向心性心肌肥厚随着新诊断技术的应用与开展逐渐被揭示。研究方法：采取回顾性研究与前瞻性研究相结合的方法。前两部分为回顾性研究,分析我院临床诊断心肌淀粉样变患者心电图与超声心动图特征,总结心肌淀粉样变患者代表性心电图特征,提出心电图联合超声心动图诊断心肌淀粉样变的新标准。后两部分为前瞻性研究,使用电镜和基因检测等方法,对部分心肌淀粉样变和其它类型向心性心肌肥厚患者进一步进行诊断学研究。研究结果：(1)心肌淀粉样变患者心电图研究表明肢体导联低电压和假性梗死波形为常见的心电图改变,二者同时存在诊断心肌淀粉样变的敏感性、特异性、阳性和阴性预测值分别为28%、98%、96%和39%。(2)心电图和心脏超声联合可作为心肌淀粉样变无创诊断方法,包括R1/LVPW比值0.4诊断原发型心肌淀粉样变敏感性和特异性分别为91%和100%,阳性和阴性预测值分别为100%和91%；RV5(6)/LVPW比值0.7诊断原发型心肌淀粉样变的敏感性和特异性分别为91%和89%,阳性和阴性预测值分别为91%和89%。(3)临床高度疑诊心肌淀粉样变但刚果红染色阴性患者可通过进行电镜检查明确诊断。(4)Danon病临床少见,本研究通过基因检测(LAMP2)和心内膜心肌活检标本电镜检测技术发现Danon病是向心性心肌肥厚的病因之一,首次在国际上报道了3个新的LAMP2基因突变位点。结论：肢体导联低电压和假性梗死波形为心肌淀粉样变患者代表性心电图特征,心电图与超声心动图联合指标可作为心肌淀粉样变诊断的新标准。电镜可辅助用于刚果红阴性心肌淀粉样变的诊断。Danon病为向心性心肌肥厚病因之一。
[Abstract]:Background: myocardial hypertrophy is a group of inherited or acquired myocardial diseases, which can be divided into two categories: non-concentric myocardial hypertrophy and concentric myocardial hypertrophy. The former is represented by hypertrophic cardiomyopathy, the latter is due to many reasons. Common causes include hypertension and aortic stenosis. Concentric myocardial hypertrophy, which is rare in etiology, has been gradually revealed with the application and development of new diagnostic techniques. Methods: retrospective study and prospective study were adopted. The first two parts are retrospective studies to analyze the characteristics of electrocardiogram and echocardiography in patients with myocardial amyloidosis diagnosed in our hospital, and to summarize the representative electrocardiogram characteristics of patients with myocardial amyloidosis. A new standard for the diagnosis of myocardial amyloidosis by electrocardiogram (ECG) combined with echocardiography was put forward. The latter two parts were prospective studies, and further diagnostic studies were carried out in some patients with myocardial amyloidosis and other types of concentric myocardial hypertrophy by means of electron microscope and gene detection. Results: (1) ECG studies in patients with myocardial amyloidosis showed that low voltage and false infarction waveforms in limb leads were common ECG changes, and both of them had sensitivity and specificity in the diagnosis of myocardial amyloidosis. The positive and negative predictive values were 28%, 98%, 96% and 39%, respectively. (2) the combination of electrocardiogram and echocardiography could be used as a noninvasive method for the diagnosis of myocardial amyloidosis. The sensitivity and specificity of R1/LVPW ratio in the diagnosis of primary myocardial amyloidosis were 91% and 100%, respectively, and the positive and negative predictive values were 100% and 91%, respectively. The sensitivity and specificity of RV5 _ (6) / LVPW ratio in the diagnosis of primary myocardial amyloidosis were 91% and 89%, respectively. The positive and negative predictive values were 91% and 89%, respectively. (3) patients with highly suspected myocardial amyloidosis but negative staining with Congo red staining could be diagnosed by electron microscope. (4) Danon disease was rare in clinic. In this study, gene detection (LAMP2) and endocardial myocardial biopsies were used to detect Danon disease as one of the causes of concentric myocardial hypertrophy. Three new LAMP2 gene mutation sites were reported for the first time in the world. Conclusion: the low voltage and false infarction waveforms of limb leads are the representative electrocardiogram characteristics of patients with myocardial amyloidosis. The combined indexes of electrocardiogram and echocardiography can be used as a new standard for the diagnosis of myocardial amyloidosis. Electron microscope can be used in the diagnosis of Congo red negative myocardial amyloidosis. Danon disease is one of the causes of concentric myocardial hypertrophy.
【学位授予单位】：北京协和医学院
【学位级别】：博士
【学位授予年份】：2015
【分类号】：R542.2

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