【摘要】：研究背景：心肌肥厚疾病是一組遺傳或獲得相關(guān)的心肌疾病,臨床分為非向心性心肌肥厚和向心性心肌肥厚兩類(lèi),前者以肥厚型心肌病為代表,后者原因眾多,常見(jiàn)原因包括高血壓和主動(dòng)脈瓣狹窄等。少見(jiàn)病因的向心性心肌肥厚隨著新診斷技術(shù)的應(yīng)用與開(kāi)展逐漸被揭示。研究方法：采取回顧性研究與前瞻性研究相結(jié)合的方法。前兩部分為回顧性研究,分析我院臨床診斷心肌淀粉樣變患者心電圖與超聲心動(dòng)圖特征,總結(jié)心肌淀粉樣變患者代表性心電圖特征,提出心電圖聯(lián)合超聲心動(dòng)圖診斷心肌淀粉樣變的新標(biāo)準(zhǔn)。后兩部分為前瞻性研究,使用電鏡和基因檢測(cè)等方法,對(duì)部分心肌淀粉樣變和其它類(lèi)型向心性心肌肥厚患者進(jìn)一步進(jìn)行診斷學(xué)研究。研究結(jié)果：(1)心肌淀粉樣變患者心電圖研究表明肢體導(dǎo)聯(lián)低電壓和假性梗死波形為常見(jiàn)的心電圖改變,二者同時(shí)存在診斷心肌淀粉樣變的敏感性、特異性、陽(yáng)性和陰性預(yù)測(cè)值分別為28%、98%、96%和39%。(2)心電圖和心臟超聲聯(lián)合可作為心肌淀粉樣變無(wú)創(chuàng)診斷方法,包括R1/LVPW比值0.4診斷原發(fā)型心肌淀粉樣變敏感性和特異性分別為91%和100%,陽(yáng)性和陰性預(yù)測(cè)值分別為100%和91%；RV5(6)/LVPW比值0.7診斷原發(fā)型心肌淀粉樣變的敏感性和特異性分別為91%和89%,陽(yáng)性和陰性預(yù)測(cè)值分別為91%和89%。(3)臨床高度疑診心肌淀粉樣變但剛果紅染色陰性患者可通過(guò)進(jìn)行電鏡檢查明確診斷。(4)Danon病臨床少見(jiàn),本研究通過(guò)基因檢測(cè)(LAMP2)和心內(nèi)膜心肌活檢標(biāo)本電鏡檢測(cè)技術(shù)發(fā)現(xiàn)Danon病是向心性心肌肥厚的病因之一,首次在國(guó)際上報(bào)道了3個(gè)新的LAMP2基因突變位點(diǎn)。結(jié)論：肢體導(dǎo)聯(lián)低電壓和假性梗死波形為心肌淀粉樣變患者代表性心電圖特征,心電圖與超聲心動(dòng)圖聯(lián)合指標(biāo)可作為心肌淀粉樣變?cè)\斷的新標(biāo)準(zhǔn)。電鏡可輔助用于剛果紅陰性心肌淀粉樣變的診斷。Danon病為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.
【學(xué)位授予單位】：北京協(xié)和醫(yī)學(xué)院
【學(xué)位級(jí)別】：博士
【學(xué)位授予年份】：2015
【分類(lèi)號(hào)】：R542.2

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