Non-hypertrophic cardiomyopathy presenting as left ventricular hypertrophy in 4 cases

目的 探讨以左心室肥厚为临床表征而非肥厚型心肌病的诊疗经验.方法 分析临床上遇到的4例初步诊断为肥厚型心肌病最终考虑为其他相对少见心肌病患者的临床表现特点、辅助检查结果和诊断方法.结果 4例均为由超声心动图检查出的不可解释的心肌肥厚患者.1例17岁男性,心肌极度肥厚合并预激的心电图图形、伴有近端肌肉萎缩和智力发育迟缓,肌酶升高,骨骼肌病理为边缘存在肌膜蛋白的自噬空泡性肌病,诊断为Danon病.1例老年女性,表现为梗阻性肥厚型心肌病,其姐姐明确诊断为Fabry病,诊断为晚发的轻型Fabry病.1例青年男性,表现为心肌肥厚和A型预激,但无其他异常,有明确的家族史,考虑为编码AMP激活蛋白激酶y2亚单位(PRKAG2)心脏综合征可能.1例44岁男性,心肌肥厚程度与心电图电压不匹配,肾穿刺活组织病理检查发现淀粉样变性,诊断为原发性淀粉样变浸润心肌.结论 除原发性遗传性的肥厚型心肌病外,尚有少见的代谢性遗传性肥厚型心肌病和系统疾病浸润心肌导致的心肌肥厚,值得引起重视.     

心肌肥厚患者中Fabry病发病状况的临床研究

目的  研究Fabry病误诊为肥厚型心肌病的临床状况,并分析汉族人群中该病的临床特点。方法  应用底物法对427例诊断为肥厚型心肌病的患者进行α-半乳糖苷酶A活性测定,对活性异常的患者进行DNA提取基因测序分析,合并酶活性异常和基因突变的患者被认为患有此病,收集该类患者的临床资料进行分析。结果  13例患者的酶活性明显低于正常对照组（P＜0.05）。基因学分析发现,其中5例患者携带有GLA基因突变,被确诊为Fabry病。心肌肥厚的人群中,约有1.2%为Fabry病患者,该病患者的肾脏疾病发病率和肾病家族史明显高于其他左室肥厚患者(P＜0.05)。结论    Fabry病患者往往会因心肌肥厚而被误诊为肥厚型心肌病,对合并肾脏疾患的心肌肥厚患者在诊断肥厚性心肌病前,应排除Fabry病的可能性。     

彩色多普勒与心电图检查对心尖肥厚型心肌病的诊断意义

心尖肥厚性心肌病是肥厚性心肌病的特殊类型,以左心室乳头肌水平以下的心尖部心肌肥厚为病理特征,属于原发性肥厚型心肌病的亚型,常不伴有左心室流出道梗阻和压力阶差。因其在临床、心电图及彩色多普勒超声等方面有特殊的表现,而有别于其他肥厚型心肌病。本文现就本院确诊为心尖肥厚性心肌病的42例患者的彩色多普勒超声与心电图结果进行分析,通过对比检查结果和相关临床资料,探讨诊断AHCM准确性的相关因素,研究其临床意义。     

伴有高血压的肥厚型心肌病诊断探讨

肥厚型心肌病是一组以非对称性室间隔肥厚、心室腔变小,左心室血液充盈受阻,舒张期顺应性下降为主要症状的心肌病。但伴随高血压的肥厚型心肌病,因其与原发性肥厚型心肌病及高血压性心肌肥厚有不同的临床特点和治疗有其特珠性,肥厚型心肌病易出现误诊,所以诊断时要提高警惕,针对心电图及心脏杂音的特点,提出预见性诊断,进行针对性的检查,可以减少误诊。     

二次谐波显像超声心动图诊断心尖肥厚型心肌病(12例漏诊分析)

心尖肥厚型心肌病(apical hypertrophic cardiomyopathy，AHCM)是一种较少见的原发性肥厚型心肌病，表现为局限于左室乳头肌水平以下的心尖部心肌肥厚。本病临床表现缺乏特异性，常于体检时心电图异常而进一步检查发现，诊断主要依靠超声心动图检查。普通二维超声心动图心尖部位常受肺、胸壁等影响，无法得到清晰的图像，往往造成误诊或漏诊。     

心电图、MRI及心脏超声在诊断心尖肥厚型心肌病中的应用

目的探讨心电图、MRI及心脏超声在诊断心尖肥厚型心肌病中的应用价值。方法回顾性分析2015年2月-2017年10月本院收治的52例心尖肥厚型心肌病患者的临床资料,均行心电图、MRI及心脏超声检查,分析心尖肥厚型心肌病患者影像学表现,并评估三种影像学手段诊断心尖肥厚型心肌病的效能。结果52例病例患者心电图均有异常,左胸导联RV4-6电压增高、左胸导联前后肢对称且有深倒置巨大T波、ST段水平压低各35(67.31%)、40(76.92%)、32例(61.54%),均无异常Q波,不同程度心律失常6例(11.54%);MRI影像学表现:单纯型P-心尖部心肌肥厚、单纯型T-心尖部心肌肥厚、混合型P-心尖部心肌肥厚、混合型T-心尖部心肌肥厚各23、12、12、5例;T-心尖部心肌肥厚患者心尖部室壁弥漫性肥厚,以典型"黑桃心"征象为主要表现,P-心尖部心肌肥厚患者心尖部室壁轻度肥厚,多为节段性肥厚,无"黑桃样"征象;超声检查影像学表现以心尖部心肌对称或不对称性肥厚为主,肥厚心肌回声不均匀,收缩较僵硬,心尖部心腔狭小甚至闭塞,超声检查22例未见明显异常,18例心尖部心肌肥厚,8例左室舒张功能降低,10例左房增大。结论心电图、MRI及心脏超声在诊断心尖肥厚型心肌病中均具有一定价值,MRI可精确显示各心肌壁肥厚程度,利于心肌病分型、心脏功能分析,因而在心尖肥厚型心肌病诊断中较心电图和超声更具优势。     

心尖肥厚性心肌病14例临床诊断分析

目的 了解心尖肥厚型心肌病(AHCM)的临床表现和心电图诊断特点.方法 分析14例心尖肥厚型心肌病的临床表现和心电图,核素心肌断层显像及心脏超声心动图特征,确定心尖肥厚型心肌病的诊断方法.结果 心电图显示以胸导为主的导联R波振幅呈V4≥V5＞V3规律增高,同时伴有T波对称性深倒置,超声心动图和核素心肌断层显像显示心尖部心肌肥厚.结论 标准12导心电图显示胸导联V3～V5R波振幅关系增高伴对称性T波深倒置,应该考虑心尖肥厚型心肌病的可能,心电图改变特点是心尖肥厚型心肌病的首要诊断依据.     

心尖肥厚型心肌病的心电图表现

目的:探讨心尖肥厚型心肌病(AHCM)的心电图特点.方法:对16例心尖肥厚型心肌病患者(男14例,女2例)进行心电图、超声心动图及冠状动脉造影和左室造影等检查,并与正常人对照.结果:心尖肥厚型心肌病心电图显示胸导联V3～V5R波振幅增高,胸导联ST段下移,以V2～V5最明显,T波对称性倒置具有TV4≥TV5＞TV3的特征,应进一步做超声心动图检查,多可明确诊断,必要时做冠状动脉造影或放射性核素心肌断层显像,以提高诊断率.结论:标准12导联心电图显示胸导联V3-V5R波振幅增高伴ST-T改变的特征性改变,要高度考虑心肌肥厚性心肌病的可能.     

易误诊的原发性肥厚型心肌病

目的：为了避免临床误诊而导致错误治疗，本总结了3例易误诊的原发性肥厚型心肌病的病例。方法：所有病人均进行了心肌酶、心电图、胸部X光和超声心动图检查。结果：三例病人均显示有心肌酶不同项目的升高，心电图示心肌梗塞，X线示心脏扩大，超声心动图则显示为肥厚型心肌病的声像图改变，结论：原发性肥厚型心肌病在心电图上常表见为ST-T改变，左室肥厚，或左室高电压和异常Q波，并由此而误诊为心肌梗塞或心肌炎。超声心动图可进行正确诊断。核磁共振更能描述本病的形态学特征。     

表现为肥厚型心肌病的糖原贮积病

背景:无法解释的左室肥厚常提示诊断为肥厚型心肌病,该病是一种肌小节蛋白基因异常的疾病。由于AM P激活的蛋白激酶γ2(PRKAG2)基因的突变可引起心脏糖原积聚和左室肥厚,类似于肥厚型心肌病,所以假设其他调节糖原代谢的基因突变的患者也可被临床误诊为肥厚型心肌病。方法:对75例连续的无相互关系的肥厚型心肌病患者进行基因分析,检测出40例肌小节蛋白突变,对其余35例患者的PRKAG2、溶酶体相关膜蛋白2(LAM P2)、α半乳糖苷酶(GLA)和α-1,4-葡萄糖苷酶酸(GAA)基因进行研究。结果:没有发现基因缺陷导致的Fabry病(GLA)和Pom pe病(GA…     

The clinical profile of hypertrophic cardiomyopathy

Seven cases of hypertrophic cardiomyopathy, presenting in a cardiological practice over a period of three years, are documented to illustrate the clinical spectrum of this disease. Frequently this disorder presents with symptoms resembling those of ischaemic heart disease accompanied by left ventricular hypertrophy without obvious cause. It is often familial. The clinical course is variable, but in general slowly progressive; the prognosis depends largely on the severity of disease when the patient presents for treatment. Although no fully satisfactory treatment is available, beta-blockade often ameliorates symptoms, and surgery may benefit selected patients with advanced disease.     

血清胰岛素样生长因子-1与肥厚型心肌病左室肥厚的相关性研究

目的 :探讨肥厚型心肌病 (HCM)患者胰岛素样生长因子 - 1(IGF - 1)与HCM心室肌肥厚程度的关系。方法 :分 3组 :正常对照组 (n =2 9)、高血压伴左室肥厚组 (n =2 6 )和HCM组 (n =18)。以超声心动图测算左室重量指数 ,以放射免疫法测定血清IGF - 1水平 ,比较 3组血清IGF - 1水平 ,分析IGF - 1水平和心室肌肥厚程度的相关性。结果 :HCM组和高血压伴左室肥厚组血清IGF - 1水平无统计学差异 ,但两组均显著高于正常对照组 (p <0 .0 1)。血清IGF - 1与左室重量指数高度相关 (r =0 .91,p <0 .0 1)。结论 :IGF - 1可能参与肥厚型心肌病心肌肥厚发生发展的过程。     

Importance of endomyocardial biopsy in unexplained cardiomyopathy in China: a report of 53 consecutive patients

Background Although endomyocardial biopsy （EMB） plays a crucial role in the final diagnosis in patients with heart failure of unknown etiology, the invasive nature of this technique limits its clinical application in China. The purpose of this study was to evaluate the clinical application of EMB in diagnosing cardiomyopathy with unexplained etiologies in China. Methods Fifty-three consecutive patients （38 males, age 14-67 years, median 43 years） were included in the study who were initially diagnosed as unexplained cardiomyopathy and under EMB biopsy in Peking Union Medical College Hospital from 2006 to 2009. The patients were clinically divided into four groups： dilated, hypertrophic, restrictive and unclassified cardiomyopathy. Biopsies were performed via right internal jugular vein with the use of the bioptome under fluoroscopic guidance. Three to five endomyocardial samples were taken from each patient for light microscopy examination and one sample for electron microscopy was taken if necessary. For each patient, an initial clinical diagnosis, an EMB diagnosis and a final diagnosis prior to discharge were established. All the data were compared and analyzed for the evaluation of clinical utility of EMB in China.Results In 26 patients initially diagnosed with restrictive cardiomyopathy （RCM）, the etiology of the condition was finally diagnosed using EMB in 15; including 13 amyloidosis and two eosinophilic myocarditis. We employed EMB in 19 patients clinically diagnosed as dilated cardiomyopathy and detected viral myocarditis in one patient, cardiac involvement due to polymyositis in four and doxorubicin-induced cardiomyopathy in one. In five patients with severe left ventricle hypertrophy undergoing EMB, one patient was diagnosed as autophagic vacuolar cardiomyopathy and one as mitochondrial disease. In the remaining three patients with unclassified cardiomyopathy, EMB revealed infiltration of eosinophils as the cause of atrial ventricular block in one patient. Final diagnoses were made in 24 of the total 53 patients （45%） based on the combination of EMB and clinical data. Transient atrial ventricular block in a patient with prior complete left bundle branch block was the only complication occurred during the procedures.Conclusion The clinical application of EMB is safe. The combination of EMB and clinical data produced a better understanding of the mechanisms behind the clinically diagnosed cardiomyopathy in China.     

63例肥厚型心肌病的心电图分析

目的探讨肥厚型心肌病的心电图特点。方法对63例经临床确诊的肥厚型心肌病患者的心电图进行回顾性分析。结果63例中有5例心电网正常,58例存在异常改变,其中,ST—T改变53例,左心室肥厚特征性改变22例,异常Q波22例,38例伴有心律失常。结论肥厚型心肌病可出现多种心电图改变,其敏感性高,但缺乏特异性,诊断时需结合临床及其他相关检查如超声心动冈等,可提高诊断率。     

肥厚型心肌病家系调查及彩色多普勒心肌显像诊断肥厚型心肌病价值的研究

目的了解肥厚型心肌病遗传规律；探讨彩色多普勒心肌组织显像（DTI）对该病的诊断价值。方法采用家系调查。对肥厚型心肌病人用DTI测定左室后壁及室间隔厚度，测定二尖辩环、左室后壁、心尖部及空间隔运动速度。结果该家系4代68人确诊为肥厚型心肌病8例，其中梗阻性3例，非梗阻性5例。心肌舒张功能指标：MVRDEV、LVPWENDV、LVPWEXDV、LVPWMDV、APMDV显著降低，反映收缩功能指标部分降低。结论肥厚型心肌病符合常染色体显性遗传。DTI对该病的诊断及了解心脏功能都具有重要价值。     

肥厚型心肌病冠状动脉造影的特征及临床意义

目的分析肥厚型心肌病(HCM)患者冠状动脉造影的特征及临床意义。方法将64例经心脏彩色多普勒超声、左心室造影和冠状动脉造影检查确诊为HCM的患者分为梗阻型HCM组(HOCM组,44例)及非梗阻型HCM组(HNCM组,20例),比较两组患者的基线临床资料及冠状动脉造影检查结果,测量并比较冠状动脉各分支的内径。结果冠状动脉性心脏病的高危因素中,两组间仅年龄及糖尿病构成比的差异有统计学意义(P值均<0.05)。心脏彩色多普勒超声检查显示,两组间二尖瓣前叶收缩期前向运动(SAM)征的构成比、左心室流出道压差、室间隔厚度、左心房直径的差异均有统计学意义(P值均<0.05)。冠状动脉造影检查显示,两组间冠状动脉狭窄、左前降支肌桥的发生率及左侧冠状动脉优势型患者构成比的差异均无统计学意义(P值均>0.05),而冠状动脉粥样硬化、左间隔支肌桥发生率的差异均有统计学意义(P值均<0.01)。HOCM组的左主干、左前降支、左回旋支及左间隔支内径均显著大于HNCM组(P值均<0.01)。结论 HOCM患者的左间隔支肌桥发生率较HNCM患者高,且冠状动脉内径较粗大,尤其是左间隔支粗大,对临床上经皮导管化学消融有指导意义。     

Pitfalls in the diagnosis of left ventricular hypertrabeculation/non-compaction

Left ventricular hypertrabeculation/non-compaction (LVHT) is a cardiac abnormality, characterised by >3 trabeculations apically to the papillary muscles and intertrabecular spaces. LVHT may occur with other cardiac abnormalities, heart failure, electrocardiographic abnormalities and neuromuscular disorders. This study gives an overview about (1) patients with LVHT in whom LVHT was initially overlooked and (2) cardiac conditions that may lead to falsely diagnosed LVHT. In 50 reported cases, LVHT has been overlooked and misdiagnosed as dilated (n = 20), hypertrophic (n = 14) or restrictive cardiomyopathy (n = 2), endocardial fibroelastosis (n = 5), endomyocardial fibrosis (n = 1), myocarditis (n = 3), thrombus (n = 2), localised left ventricular hypertrophy (n = 1), left ventricular mass (n = 1) or myocardial/pericardial disease (n = 1). In 14 patients, LVHT was diagnosed only by transoesophageal echocardiography (n = 1), computed tomography (n = 2) ventriculography (n = 2), magnetic resonance imaging (n = 3) or pathoanatomic findings (n = 6). Falsely diagnosed LVHT comprises false tendons, aberrant bands, thrombi, apical hypertrophic cardiomyopathy, fibroma, obliterative processes, intramyocardial haematoma, cardiac metastases and intramyocardial abscesses. Echocardiographers should be more aware of LVHT and consider its differential diagnoses.     

Mid-ventricular obstructive hypertrophic cardiomyopathy with apical aneurysm and sustained ventricular tachycardia: a case report and literature review

The case is a 54-year-old man with hypertrophic cardiomyopathy, mid-ventricular obstruction, apical aneurysm, and recurrence sustained monomorphic ventricular tachycardia (VT). A coronary angiogram revealed myocardial bridging located in the middle of the left anterior descending coronary artery (LAD), and the left ventriculogram showed an hour-glass appearance of the left ventricular cavity. There was a significant pressure gradient of 60 mmHg across the mid-ventricular obliteration at rest. A successful myectomy of the inappropriate hypertrophy myocardium and excision of the apical aneurysm were performed. Pathologic analysis demonstrated fibrosis in the apical aneurysm and thickened and narrowed vessels in the adjacent area. During the follow-up of eighteen months, the patient remained clinically stable and free from arrhythmic recurrence.

     

Mid-ventricular obstructive hypertrophic cardiomyopathy with apical aneurysm and sustained ventricular tachycardia: a case report and literature review

The case is a 54-year-old man with hypertrophic cardiomyopathy, mid-ventricular obstruction, apical aneurysm, and recurrence sustained monomorphic ventricular tachycardia (VT). A coronary angiogram revealed myocardial bridging located in the middle of the left anterior descending coronary artery (LAD), and the left ventriculogram showed an hour-glass appearance of the left ventricular cavity. There was a significant pressure gradient of 60 mmHg across the mid-ventricular obliteration at rest. A successful myectomy of the inappropriate hypertrophy myocardium and excision of the apical aneurysm were performed. Pathologic analysis demonstrated fibrosis in the apical aneurysm and thickened and narrowed vessels in the adjacent area. During the follow-up of eighteen months, the patient remained clinically stable and free from arrhythmic recurrence.