影响肥厚型心肌病预后的若干因素

肥厚型心肌病是一种心肌显著肥厚,左心室顺应性降低,往往可发生猝死〔１～３〕,而且与遗传有一定关系的原因不明的心肌病变〔４,５〕。近年来,通过对一些肥厚型心肌病患者预后的追踪和随访,认为某些因素可能会对肥厚型心肌病的预后产生影响。现综述如下。１　室性心律失常室性心律失常对肥厚型心肌病患者预后的影响尤为明显,根据动态心电图监测研究〔６〕,发生室性心律失常是肥厚型心肌病患者猝死的主要原因。在肥厚型心肌病患者中室性心律失常的发生率高达５０％,无症状性室性心动过速的发生率为１９％～３６％。目前对于肥厚型心…     

肥厚型心肌病少见亚型:左心室中部梗阻性肥厚型心肌病

肥厚型心肌病是心源性猝死的高危人群,虽然心肌厚度超过30mm是植入埋藏式心律转复除颤器以预防猝死的指标之一,但是究竟哪个部位,哪种肥厚类型更容易猝死,在目前指南中并没有定论。左心室中部梗阻性肥厚型心肌病是肥厚型心肌病的一个特殊的少见亚型,发病率很低,预后差,容易发生进行性心力衰竭、致命性心律失常和猝死。但是临床上对该类型的肥厚型心肌病认识不足,如果能早期发现、充分评估、加强随访、合理调整治疗策略可能改善预后。     

无创检查在心尖肥厚型心肌病诊断中的应用进展

心尖肥厚型心肌病是肥厚型心肌病的一种特殊类型,属非梗阻性。由于该病临床上缺乏特异的症状和体征,心电图常显示胸导联上巨大倒置T波,因此易被误诊为冠心病。临床医生通过合理应用相关辅助检查可以帮助诊断心尖肥厚型心肌病,从而指导治疗改善患者预后。     

B型脑钠肽与肥厚型心肌病的生存率

虽然大多数肥厚型心肌病患者生存时间较长，但部分患者心力衰竭（心衰）可进行性加重，药物治疗无效。B型脑钠肽（BNP）是一种主要在心肌细胞内合成释放的生物活性肽。BNP在收缩性心衰的诊断、治疗及预后判断方面的作用已得到公认，但在肥厚型心肌病方面特别是与生存率关系方面的研究较少。本研究主要探讨BNP在肥厚型心肌病预后判断方面的作用。     

肥厚型心肌病基因型与磁共振表型的关联性研究进展

肥厚型心肌病是一种常染色体显性遗传性疾病,其表型存在明显的异质性。近年来的许多研究一直致力于探究肥厚型心肌病基因型和影像表型的特点及关联,进而为通过影像表型预测基因突变类型及患者预后提供理论依据。目前,心脏磁共振成像技术在评价肥厚型心肌病中发挥着越来越重要的作用,现综述国内外肥厚型心肌病的基因型与磁共振表型的特征以及其关联性分析的研究进展。     

肥厚型心肌病动态梗阻的研究进展

肥厚型心肌病是一种常见的常染色体显性遗传性心脏病,其发病率约1/500,是青少年和运动员猝死的主要原因之一。左室流出道动态梗阻是肥厚型心肌病患者最重要的病理生理学特征,更是影响其临床表现、治疗决策及预后的主要因素。因此正确理解肥厚型心肌病动态梗阻对其诊治尤为重要。     

起搏治疗肥厚梗阻性心肌病的疗效观察

肥厚型心肌病是一种具有明显遗传倾向的心肌病,其中有左心室流出道梗阻者称为肥厚璎梗阻性心肌病.肥厚型梗阻性心肌病是严重威胁人类身体健康和造成心脏性猝死的心血管疾病之一.晕厥及猝死可以为该病的首发症状.预后不佳.药物治疗不能完全缓解症状.     

血清氮末端脑钠素原评价肥厚型心肌病预后的临床研究

本文通过回顾性分析32例肥厚型心肌病患者临床资料及出院后随访情况同血清氮末端脑钠素原(NT-Pro-BNP)之间关系,初步探讨NT-Pro-BNP对肥厚型心肌病预后评估价值.     

超声心动图评价肥厚型心肌病进展

肥厚型心肌病是一种全球性心血管疾病。肥厚型心肌病存在着从完全正常到完全异常的极为宽广的表型谱系和与之对应的极为复杂的病理解剖及病理生理改变。超声心动图能够可视化这些心脏异常动态变化并进行可靠的量化评估,为肥厚型心肌病的临床早期诊断、危险分层、精确治疗及预后评估等方面提供重要的理论及实践基础。     

心脏肌球蛋白结合蛋白C基因Tyr842Ter突变致肥厚型心肌病表型及随访研究

目的研究中国人肥厚型心肌病的致病基因突变位点,寻找基因型与临床表型及预后的相互关系。方法在529例肥厚型心肌病患者中panel测序筛查8个肌小节致病基因。通过聚合酶链式反应(PCR)相应外显子并对PCR产物进行Sanger测序分析,验证发现的心脏型肌球蛋白结合蛋白C(MYBPC3)基因突变。结果在3例肥厚型心肌病患者中发现MYBPC3基因Tyr842Ter突变。该突变位于MYBPC3基因第25号外显子,其CDS第2526位碱基由C转换为G,结果导致第842位酪氨酸(Tyr)转变终止密码子(Ter)。370例正常对照的相同位置未发现此突变。携带该突变的肥厚型心肌病患者临床表型均为肥厚型非梗阻性心肌病,发病年龄晚(69.33+10.69岁),长期随访预后良好。结论 MYBPC3基因Tyr842Ter突变在中国人肥厚型心肌病患者中比例较高,临床表型均为非梗阻性心肌病,发病年龄晚。我们研究结果提示此突变为良性突变。     

90例肥厚型心肌病的临床与预后探讨

目的 :探讨原发性肥厚型心肌病 ( HCM)发生心脏性猝死 ( SCD)的高危因素。方法 :对 90例 HCM进行临床资料分析 ,78例行 QT离散度 ( QTd)测定。结果 :有 HCM家族史者与无家族史者相比较 ,晕厥发生率分别为6 1%和 2 5 % ,严重心律失常的发生率分别为 78%和 2 0 % ,有显著性差异 ;晕厥伴有缓慢心律失常较快速心律失常多见 ;2例 SCD均有全心肥厚、左室射血分数降低及右束支传导阻滞 ;QTd对预测 SCD高危因素有意义 ;7例心脏起搏治疗均改善临床症状。结论 :有 HCM家族史、缓慢心律失常、束支传导阻滞、射血分数值降低及 QTd增加 ,可预测为发生 SCD的高危因素 ,宜给予起搏治疗。     

Clinical investigation on childhood HCM; long-term follow-up study with special reference to electrophysiology, histopathology by endomyocardial biopsy and ambulatory and exercise electrocardiography

In order to determine the prognosis and risk factors of childhood HCM, we investigated clinical parameters, such as the age of onset, symptoms and signs related to HCM, dysrhythmias and ST-T and changes by Holter ECG and exercise ECG, electrophysiological study and histopathological study by endomyocardial biopsy. Heart murmur was the commonest sign although only one patient revealed a significant left ventricular outflow tract gradient of more than 20 mmHg. The peak age of patients diagnosed as having HCM was 10 to 15 years. The major ECG manifestations of our series showed specific findings and in some cases ECG changed remarkably during the follow-up period. The diagnosis of apical hypertrophy should be made with caution in childhood. Holter ECG seemed to be indispensable for the follow-up of childhood HCM because Holter ECG in our patients manifested such significant findings as ventricular premature contractions or couplets or ST depression. The degree of clinical severity did not always correlate with the histopathological severity obtained by endomyocardial biopsy. As HCM in childhood is heterogeneous and multifaceted, there is no one therapy, and prognosis and proper treatment with close observation should be carried out in each individual case.     

Echocardiographic advances in hypertrophic cardiomyopathy: Three‐dimensional and strain imaging echocardiography

In the recent past, new ultrasound technologies, such as three‐dimensional echocardiography and strain imaging echocardiography, raised up in clinical practice leading to a better assessment of cardiac morphology and performance. These tools may assess regional cardiac mechanics, detecting clinical and subclinical myocardial dysfunction in different settings such as ischemic heart disease, cardiomyopathies, and heart valve diseases. Interesting results derive from patients affected from hypertrophic cardiomyopathy (HCM). Particularly, the mentioned techniques are progressively redefining the role of echocardiography in diagnostic evaluation of HCM variants such as apical HCM, detection of the underlying conditions of increased wall thickness, assessment of subclinical myocardial impairment, and potentially refine risk stratification and prognosis. In this review, we describe the clinical uses of these methodologies and the perspective application in HCM patients.     

Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?

Hypertrophic cardiomyopathy (HCM) is a relatively common genetic disease, generally with a benign prognosis. However sudden cardiac death may occur, sometimes as the first manifestation of the disease. More than two hundred different mutations have been described in HCM, in 12 different genes encoding sarcomere proteins. This genetic diversity is accompanied by considerable clinical variability and it is likely that phenotype is partially determined by genotype. In recent years it has been suggested that genetic defects could be the major markers of prognosis. Thus, some mutations would carry a good prognosis whereas others, so-called 'malignant' mutations, would be associated with premature sudden death. In a Portuguese population of 35 index patients with HCM the authors found considerable genetic heterogeneity: seven of the 12 mutations identified were de novo, each family having its own 'private' mutation. Moreover, in two unrelated families with the same mutation (I263T--exon 9, missense) in the beta-myosin heavy chain gene (MYH7), penetrance, clinical expression and prognosis were quite different, particularly regarding the occurrence of sudden cardiac death. In two other also unrelated families, in each index patient a different mutation was identified in the troponin I gene (TNNI3): A157V (missense), exon 7 and S199N (missense), exon 8. Phenotypic expression was different but both patients suffered sudden cardiac death (one survived). This suggests that mutations in this gene carry an adverse prognosis. In conclusion, the considerable genetic and clinical variability found in HCM hinders the interpretation of genotype-phenotype correlations, particularly since all the published data is based on small numbers of families.     

Clinical significance of atrial fibrillation in hypertrophic cardiomyopathy

Atrial fibrillation (AF) is the most common sustained arrhythmia in patients with hypertrophic cardiomyopathy (HCM), and it bears numerous pathophysiologic consequences that potentially affect patient outcome and symptoms. However, studies regarding the impact of AF on the long-term prognosis of HCM patients have been limited in number, with sometimes conflicting results. Recently, studies on community-based patient populations showed that AF is associated with long-term clinical deterioration, embolic complications, and increased cardiovascular mortality due to heart failure and stroke. The consequences of AF on the long-term prognosis of HCM patients are not uniformly unfavorable, however, and in about one third of patients the arrhythmia is compatible with an uneventful course.     

睡眠呼吸暂停和肥厚型心肌病的关系

阻塞性睡眠呼吸暂停（OSA）是最常见的睡眠呼吸紊乱,与肥厚型心肌病（HCM）关系密切.OSA在HCM患者中普遍存在,而且OSA通过引起间歇性低氧血症反复激活交感神经系统,可以加重HCM患者的临床症状、恶化血流动力学指标和心功能状态;而且心房颤动与二者关系密切,在OSA与HCM之间扮演重要角色,积极发现并治疗OSA将可能改善HCM患者的临床症状和心血管预后,特别是对药物难治性HCM患者筛查并治疗OSA具有重要的意义.     

Hypertrophic Cardiomyopathy: Current Treatment and Future Options

Hypertrophic cardiomyopathy (HCM) is a disease involving the cardiac sarcomere. It is associated with various disease-causing gene mutations and phenotypic expressions, managed with different therapies with variable prognoses. The heterogeneity of the disease is evident in the fact that it burdens patients of all ages. HCM is the most prevalent cause of sudden death in athletes. However, several technological advancements and therapeutic options have reduced mortality in patients with HCM to 0.5% per year. In addition, rapid advances in our knowledge of the molecular defects accountable for HCM have strengthened our awareness of the disorder and recommended new approaches to the assessment of prognosis. Despite all these evolutions, a small subgroup of patients with HCM will experience sudden cardiac death, and risk stratification remains a critical challenge. This review provides a practical guide to the updated recommendations for patients with HCM, including clinical updates for diagnosis, family screening, clinical imaging, risk stratification, and management.     

Advances in hypertrophic cardiomyopathy: What the cardiologist needs to know

Hypertrophic cardiomyopathy (HCM) is known as the most common genetic heart disease, characterized by otherwise unexplained left ventricular (LV) hypertrophy. In spite of major advances in whole genome sequence techniques, it is still not possible to identify the causal mutation in approximately half of HCM patients. Consequently, a new HCM concept, “beyond the sarcomere” is being developed, supported by data from recent HCM registries which reveal two distinct HCM subgroups: sarcomere positive HCM subgroup and nonfamilial HCM subgroup. Sarcomere positive HCM patients tend to be younger age at diagnosis, have fewer co-morbidities, present more often with reverse septal morphology, more myocardial fibrosis, less LV outflow tract obstruction, and a worse prognosis when compared to nonfamilial HCM patients. These subgroups, with different molecular basis, phenotypes and clinical profiles, will likely require specific management strategies.Important research advances have also been made concerning diagnosis, sudden cardiac death stratification and therapy. In this article, we seek to review recent relevant knowledge, summarizing the advances in this complex and heterogeneous disease.     

Myocarditis in hypertrophic cardiomyopathy patients presenting acute clinical deterioration.

AIM: We sought to determine whether myocarditis can be a major cause of acute electrical instability or clinical deterioration in HCM patients. METHODS AND RESULTS: A total of 119 HCM patients (69 M/50F, mean age 41 +/- 8), 42 with acute clinical deterioration and 77 clinically stable, underwent cardiac catheterization with left ventricular endomyocardial biopsy and gene analysis of major sarcomeric proteins. Endomyocardial tissue was processed for histology, immunohistochemistry, and polymerase chain reaction for the most common cardiotropic viruses. Controls were surgical samples from 50 patients with mitral stenosis. All 119 patients showed histological findings suggestive of HCM. In addition, CD45RO+ lymphocytes (> or =14/mm(2)) with focal necrosis of the adjacent severely hypertrophied and often disorganized myocytes, consistent with an overlapping active myocarditis, were observed in 28 of 42 unstable and none of 77 stable HCM patients. A viral genome was detected in 14 of 28 patients with myocarditis and in none of HCM patients without and in none of controls. No correlation between sarcomeric protein gene mutations and HCM clinical profile was observed. CONCLUSION: Myocarditis, often viral, represents a common cause of acute clinical deterioration in HCM. Its recognition can potentially affect disease prognosis and treatment.     

目标基因捕获测序技术鉴定肥厚型心肌病致病突变的研究

目的:利用目标基因靶向捕获高通量测序方法鉴定肥厚型心肌病(hypertrophic cardiomyopathy,HCM)致病突变,并进行基因型-临床表型的分析,以期对临床诊治提供参考依据。方法:连续收集10例HCM患者血液与临床资料。提取全血基因组DNA、文库制备,靶向富集8个编码肌小节蛋白的HCM的致病基因,并行高通量测序。结果:10例患者[平均年龄为(46±7.9)岁,女性占50%]中,4例患者发现5个基因突变位点。双突变(TNNT2 R286H和MYH7 R663H)携带者具有HCM家族史,发病早,左心室重度肥厚,心电图呈现传导阻滞。MYBPC3 D770N和MYBPC3 S236G突变携带者发病年龄晚,左心室肥厚程度较轻。MYH7 R869C突变携带者年龄大,左心室肥厚程度较重,心电图呈现明显左心室肥大证据。结论:对10例HCM患者利用目标基因捕获测序技术筛选出5个致病突变。携带不同突变的患者其临床表型不一致,这对患者的预后和治疗提供了有利的依据。