心尖肥厚型心肌病患者心电图表现与临床诊断意义

目的：探讨心尖肥厚型心肌病患者的心电图特征性改变及临床诊断意义.方法：分析68例心尖肥厚型心肌病患者的心电图及超声心动图资料.结果：心尖肥厚心肌病合并有心电图异常和超声心动图异常改变者68例,中胸及左胸导联,巨大倒置酷似“冠状T波”≥0.2～0.3mV,以V3,V4明显且TV4＞TV5＞TV3者62例;左胸V4-V6导联R波电压增高,且RV4＞RV5＞RV6者60例;ST段压低以V3-V4最明显者62例;超声心动图示心尖肥厚达17mm或以上伴心尖部心腔狭小者68例.结论：心电图对心尖肥厚型心肌病具有早期诊断价值 。     

遗传性心肌病的临床实践指南

心肌病是一组异质性心肌疾病,可由各种原因(常为遗传因素)引起,能够导致心力衰竭、心律失常和猝死。原发性心肌病包括遗传性肥厚型心肌病、致心律失常右室心肌病、线粒体心肌病、混合性(遗传性及获得性)扩张型心肌病和限制型心肌病、左心室致密化不全以及其他未分类的心肌病。借助基因组学技术,在人群中发现的一些常见突变与疾病的关联已被鉴定。这些突变的体内和体外功能研究为疾病的发生机制和治疗提供了有用的线索。本指南在参考国内外本领域的基础研究、临床研究和其他国家的相关指南共识的基础上,对不同类型遗传型心肌病的表型、诊断、治疗及遗传咨询进行了总结,期望有助于患者临床管理的规范化。     

基于深度卷积神经网络的肥厚型心肌病自动检测模型

肥厚型心肌病(HCM)的早期诊断,对于心源性猝死的早期风险分级、家族遗传病的筛查具有重要意义。本文以单导联心电(ECG)信号为研究对象,提出了一种基于卷积神经网络(CNN)模型的HCM自动检测方法。首先定位单导联ECG信号的R波峰值位置,再以心拍为单位对ECG信号进行分段和重采样,然后搭建CNN模型自动提取ECG信号中的深层特征并进行自动分类和HCM检测。本文实验数据来源于PhysioNet提供的三个公开数据库中提取的108条ECG记录,所建立的HCM心电数据库由14 459个心拍构成,每个心拍包含128个采样点。实验结果显示,优化后的CNN模型能够有效地对HCM进行自动检测,其准确率、灵敏度和特异度分别为95.98%、98.03%和95.79%。本文通过将深度学习方法引入HCM单导联心电分析中,对于克服常规多导联心电检测方法的技术限制和协助临床医生进行快速、便捷的大范围HCM初筛都具有重要的应用价值。     

基于肥厚型心肌病临床数据管理系统的设计与应用

目的设计一款简单易操作的数据管理系统,解决目前零散的肥厚型心肌病临床数据,将临床信息科学有效地进行整合管理,便于医生及科研人员查询、统计。方法采用Foxtable搭建一个数据库管理软件框架,并建立局域网外部数据源,实现数据的存储、查询、共享、导出。结果基于肥厚型心肌病数据管理系统的设计与应用能够满足临床医生和科研人员的基本工作需求,很大程度上节省了数据整理时间。结论该系统操作简单、移植性高、实用性强,广泛适用于各临床科室有科研项目的小型数据库管理。     

原发性肥厚型心肌病与HLA-DQ的相关性研究

本文用PCR/SSO方法对41例原发性肥厚型心肌病患者和52例正常人HLA-DQA1和DQB1基因的多态性进行分析.发现,在肥厚型心肌病患者中,DQA1＊0201,DQB1＊0504,0502等位基因频率明显较低,其相对风险值分别为9.51、5.87和11.60;而DQA1*0501,DQB1＊03031的频率明显地高,相对风险值分别为2.93和6.65.初步认为,原发性肥厚型心肌病与某些HLA-DQ基因相关联.     

扩张型心肌病与缺血性心肌病二维彩色多普勒的对比研究

利用二维彩色多普勒在心脏形态学、血液动力学及心室功能方面对扩张型心肌病 (DCM )及缺血性心肌病 (ICM )进行诊断及鉴别诊断。利用二维彩色多普勒技术分别测定 5 2例DCM组、ICM组及正常对照组的数据 ,利用定量和半定量的方法对数据进行测定 ,用统计学对数据进行处理。结果表明正常组分别与DCM组及ICM组比较有显著的差异 (P <0 0 5或0 0 1) ,ICM组与DCM组有比较显著的差异 (P <0 0 1)。DCM组主要是心肌弥漫性改变 ,心腔普遍扩大 ,心脏收缩功能明显减退 ,舒张功能为“正常”。多瓣膜返流发生率高且严重。ICM组以心肌局部病变为主 ,主要是左心腔扩大 ,左室收缩功能正常或轻度减低 ,舒张功能明显减低。瓣膜多为单瓣膜返流且较轻。结论 :二维彩色多普勒是临床鉴别诊断DCM和ICM最可靠、最简单及无创伤的首选方法。     

扩张型心肌病的护理体会及预防措施

扩张型心肌病临床以心脏扩大、心力衰竭、心律失常和栓塞为基本特征,发病率呈逐年上升趋势,对病人采取正确的护理,可以有效地提高病人的生活质量,减少死亡率。     

Pathological analysis of hypertrophic cardiomyopathy simulating dilated cardiomyopathy

The pathomorphologic features of hypertrophic cardiomyopathy simulating dilated cardiomyopathy in the late stage (HCM-DCM) were compared with those of ordinary hypertrophic cardiomyopathy (HCM). Seven autopsied hearts with HCM-DCM and 11 with HCM were assessed quantitatively using an image analyzer. Unlike HCM, significant left ventricular enlargement and wall thinning were observed in HCM-DCM, and the percentage areas of massive fibrosis and disarray were significantly greater. In HCM-DCM, the disarray was distributed diffusely, whereas massive fibrosis was distributed more intensively in the ventricular septum and anterior wall than in the lateral and posterior wall. Narrowing of intramyocardial small arteries was observed more frequently in HCM-DCM, especially in the ventricular septum and anterior wall, than in HCM. These results suggest that the enlargement and wall thinning of the left ventricle in HCM-DCM are attributable to non-uniform progression of massive fibrosis, which is closely related to small-arterial lesions.     

Phenotypic spectrum of ALPK3‐related cardiomyopathy

Cardiomyopathies are clinically heterogeneous disorders and are the leading cause of cardiovascular morbidity and mortality. Different etiologies have a significant impact on prognosis. Recently, novel biallelic loss‐of‐function pathogenic variants in alpha‐kinase 3 (ALPK3) were implicated in causing early‐onset pediatric cardiomyopathy (cardiomyopathy, familial hypertrophic 27; OMIM 618052). To date, eight patients, all presented during early childhood, were reported with biallelic ALPK3 pathogenic variants. We describe the molecular and clinical phenotype characterization of familial cardiomyopathy on one family with six affected individuals. We identified homozygosity for an ALPK3 deleterious sequence variant (NM_020778.4:c.639G>A:p.Trp213*) in all the affected individuals. They presented with either dilated cardiomyopathy that progressed to hypertrophic cardiomyopathy (HCM) or HCM with left ventricular noncompaction. The age of presentation in our cohort extends between infancy to the fourth decade. The phenotypic severity decreases with the progression of age.     

Anti-calreticulin antibodies and calreticulin in sera of patients diagnosed with dilated or hypertrophic cardiomyopathy

Distinct cellular level of the Ca²⁺-binding chaperone calreticulin (CRT) is essential for correct embryonal cardiac development and postnatal function. However, CRT is also a potential autoantigen eliciting formation of antibodies (Ab), whose role is not yet clarified. Immunization with CRT leads to cardiac injury, while overexpression of CRT in cardiomyocytes induces dilated cardiomyopathy (DCM) in animals. Hence, we analysed levels of anti-CRT Ab and calreticulin in the sera of patients with idiopatic DCM and hypertrophic cardiomyopathy (HCM). ELISA and immunoblot using human recombinant CRT and Pepscan with synthetic, overlapping decapeptides of CRT were used to detect anti-CRT Ab. Serum CRT concentration was tested by ELISA. Significantly increased levels of anti-CRT Ab of isotypes IgA (p?p?p?相似文献   

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology

We identified a unique family with autosomal dominant heart disease variably expressed as restrictive cardiomyopathy (RCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DCM), and sought to identify the molecular defect that triggered divergent remodeling pathways. Polymorphic DNA markers for nine sarcomeric genes for DCM and/or HCM were tested for segregation with disease. Linkage to eight genes was excluded, but a cardiac troponin T (TNNT2) marker cosegregated with the disease phenotype. Sequencing of TNNT2 identified a heterozygous missense mutation resulting in an I79N substitution, inherited by all nine affected family members but by none of the six unaffected relatives. Mutation carriers were diagnosed with RCM (n = 2), non-obstructive HCM (n = 3), DCM (n = 2), mixed cardiomyopathy (n = 1), and mild concentric left ventricular hypertrophy (n = 1). Endomyocardial biopsy in the proband revealed non-specific fibrosis, myocyte hypertrophy, and no myofibrillar disarray. Restrictive Doppler filling patterns, atrial enlargement, and pulmonary hypertension were observed among family members regardless of cardiomyopathy subtype. Mutation of a sarcomeric protein gene can cause RCM, HCM, and DCM within the same family, underscoring the necessity of comprehensive morphological and physiological cardiac assessment in familial cardiomyopathy screening.     

Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred

Cardiomyopathy is a heterogeneous disorder with numerous inherited and acquired causes. Familial, isolated, dilated cardiomyopathy is usually reported as being inherited in an autosomal dominant mode with variable penetrance and expressivity. In this paper we describe a form of autosomal recessively inherited, dilated, cardiomyopathy occurring in three members of a consanguineous Madeira Portuguese family. Following review of the literature, it appears that the autosomal recessive form of dilated cardiomyopathy is more common than previously reported.     

CMTM3表达下调参与肥厚性心肌病发病

目的 探讨CMTM3在肥厚性心肌病患者的心肌组织中的表达情况及肥厚性心肌病的发病机制.方法 研究对象包括两部分:1)按每天15 mg/kg剂量腹腔注射异丙肾上腺素(ISO)诱导的心肌肥厚小鼠模型;2)2014年1月至2014年6月在阜外医院接受手术的肥厚性心肌病患者32例及3例正常心肌组织.使用半定量RT-PCR,real-time PCR及Western blot检测CMTM3在心肌组织转录和蛋白水平的表达.结果 1)在ISO诱导的心肌肥厚小鼠组织中,CMTM3 mRNA表达下调.2)在肥厚性心肌病患者病变的心肌组织中,CMTM3在转录水平和蛋白水平表达均下调.结论 CMTM3低表达致心肌组织增殖肥厚,可能参与了肥厚性心肌病发病.     

Genotype-specific effects on left ventricular function in parvovirus B19-positive patients with dilated cardiomyopathy

Genotype‐specific effects of parvovirus B19 (B19V) infections on left ventricular function in patients with dilated cardiomyopathy (DCM) have not been investigated so far. In this prospective clinical study, the prevalences of B19V genotypes in endomyocardial biopsies from patients presenting with inflammatory heart disease and DCM were determined. A total of 139 consecutive patients were included in the study; among them 53 patients were diagnosed as DCM. Among the total study cohort, B19V DNA was detected in 65 study participants (46.8%). Genotyping of the B19V genomes in the total cohort identified genotype 1 in 38 samples (27.3%), genotype 2 in 25 samples (18.0%), and genotype 3 in only two patients (1.4%). During an average follow‐up period of 8 months left ventricular ejection fraction (LVEF) improved significantly both in B19V‐positive (7.1 ± 13.8%, n = 17, P = 0.038) as well as B19V‐negative patients with DCM (9.5 ± 13.9%, n = 20, P = 0.017). However, mean LVEF improved only in patients with genotype 1 (11.0 ± 14.4%, n = 7), whereas it even decreased in patients with genotype 2 (?6.2 ± 6.3%, n = 5, P = 0.033). These data from a small sample of patients diagnosed as DCM suggested that myocardial function during short‐time follow‐up differed between genetic variants of B19V. Patients with genotype 1 were on average younger than genotype 2 and appeared to be more prone to a beneficial course of left ventricular function than patients with genotype 2. Future studies with larger sample sizes and longer follow‐up periods will be required to confirm this observation. J. Med. Virol. 83:1818–1825, 2011. © 2011 Wiley‐Liss, Inc.     

Evaluation of pathological criteria for diagnosis of hypertrophic cardiomyopathy

This study aims to evaluate and compare the current pathological criteria for the diagnosis of hypertrophic cardiomyopathy (HOCM). The following criteria were applied to 39 autopsy patients whose hearts showed myofibre disarray: (i) disarray involving more than 5% of ventricular septal myofibres, (ii) asymmetrical septal hypertrophy (ASH), (iii) mirror-image subaortic plaque, and (iv) a positive histologic HOCM index (HHI). Group 1 (27 patients) with greater than 5% ventricular septal myofibre disarray were diagnosed as HCM, whereas group 2 (12 patients) had less than 5% disarray. The mean disarray value in group 1 was 52% compared to 1.2% in group 2. The two groups showed significant differences regarding ASH and in the amounts of myofibre disarray in the free walls of both ventricles. A new finding was that the histologic HOCM index was significantly higher in patients who died suddenly. The HHI was the commonest positive criterion in group 1, followed by ASH and a mirror-image endocardial plaque. None of the current imperfect pathological criteria for the diagnosis of HCM can be used as the 'gold standard'.     

The role of human urotensin-II in patients with hypertrophic cardiomyopathy

Objective: Hypertrophic cardiomyopathy (HCM) is a genetic condition with the hallmark feature of left ventricular hypertrophy. Human Urotensin-II (hUT-II) is regarded as a cardiovascular autacoid/hormone, and it has cardiac inotropic and hypertrophic properties. Aims of this study were to elucidate the clinical significance of serum hUT-II levels as a potential new biomarker in patients with HCM.

Methods: This study included 40 HCM patients (60% males and 40% females) and were compared to 30 healthy control subjects (47% males and 53% females. All patients underwent extensive clinical, laboratory, and echocardiographic. Blood samples were taken to test for serum hUT-II levels by commercial ELISA Kit.

Results: Serum hUT-II was significantly higher (p < 0.01) in patients with HCM (15.8 ± 2.1 pmol/L) compared with healthy controls (3.3 ± 1.7 pmol/L). With regard to HCM patient, Serum hUT-II levels were significantly higher in the female with 16.3 ± 1.9 pmol/L than the male with 15.4 ± 2.2 pmol/L (p < 0.05). Among echocardiographic parameters, hUT-II was negatively associated with ejection fraction (r = -0.160, p = 0.324).

Conclusion: Results of the first study indicated that serum hUT-II levels were markedly elevated in patients with HCM. Serum hUT-II is a novel biomarker parameter that has clinical use in patients with the severity of LVH.