心肌致密化不全与扩张型心肌病合并过度小梁化的对比分析

目的:探讨心肌致密化不全(NVM)与扩张型心肌病(DCM)合并过度小梁化的临床和超声心动图特点,明确对两者鉴别诊断价值。方法:对比分析31例NVM组及50例DCM合并过度小梁化组的性别、年龄、家族史、症状、心电图、脑钠肽(BNP)及超声心动图资料,着重观察两者超声心动图心腔大小、心肌壁、心内膜、彩色多普勒、血液动力学的特点,依据17节段分析法分析小梁化节段数目及程度。结果:(1)DCM合并过度小梁化组心功能分级更差,BNP明显较NVM组高(P0.05),心脏扩大程度也更明显,差异有统计学意义;(2)NVM组患者小梁化的节段数最多,节段数(9.82±2.02)个,心尖段(第17节段)均受累,非致密化心肌厚度(NC)和致密化心肌厚度(C)比值(NC/C)大(2.84±0.61),NC/C值2的节段数为(4.12±2.68)个;DCM合并过度小梁化组患者小梁化的节段数少,节段数(5.56±1.56)个,心尖段很少受累,NC/C值小(1.91±0.42),最多有1个节段NC/C值2。差别均具有统计学意义(P0.05)。结论:超声心动图是鉴别NVM与DCM的简便、实用、无创性检查手段。左心室心尖段明显呈致密化不全改变及至少2个游离壁节段收缩期的NC/C值2可诊断NVM,并可与DCM合并过度小梁化相鉴别。     

左室心肌致密化不全程度与收缩功能的关系

目的探讨左室心肌致密化不全（LVNC）患者致密化不全心肌（NC）受累节段,以及其与左室收缩功能的关系。方法选择31例经临床、心电图、X线胸片、超声心动图检查诊断为LVNC患者,并行心功能NYHA分级;依据左室16节段分析法,分析超声心动图检查中NC受累节段,常规测量左室舒张末内径、左室射血分数、左房内径等。结果31例中,心功能Ⅰ-Ⅱ级5例,Ⅲ-Ⅳ级26例。首发表现为慢性左心功能不全23例。LVNC受累部位依次为心尖、乳头肌,最易受累节段侧壁为心尖段,受累节段与左室射血分数呈中度负相关（P〈0.05）。结论NC累及节段可作为判断致LVNC程度的指标之一。     

左室心肌致密化不全的临床特征和磁共振成像表现

目的研究孤立性左室心肌致密化不全(LVNC)的临床特征和磁共振成像(MRI)表现。方法利用心脏MRI检查,采用不同成像序列对患者进行扫描,依据9节段分析法分析受累节段范围、程度及心脏功能等。此外引入舒张期受累节段致密化心肌厚度/室间隔基底段厚度(C/VS)比值试图对诊断标准进行优化。结果31例患者被诊断为LVNC,男23例,女8例,平均年龄39.9±15.7(13～64)岁。23例患者表现为心慌气短,其中9例初诊为扩张型心肌病。29例(93.5%)患者存在心电图异常,心律失常19例(61.3%)。31例患者共279个节段被分析,其中心肌致密化不全累及93个节段,占33.3%。31例患者的左室侧壁中段皆受累,23例(74.2%)患者左室心尖受累,其他依次为前壁中段17例(54.8%)、下壁中段10例(32.3%)、侧壁基底段8例(25.4%)、前壁基底段3例(9.7%)和下壁基底段1例(3.2%),室间隔基底段未见受累。84%的患者2个或2个以上节段受累;2例患者合并右室心尖部受累。3例合并左室附壁血栓,其中1例发生脑栓塞。MRI测量左室舒张末期横径58.7±10.2(45～89)mm,左室射血分数37.2%±16.5%(14%～70%)。舒张期受累节段非致密化心肌厚度/致密化心肌厚度(N/C)比值3.6±1.4(2.2～9.2);C/VS比值0.43±0.11(0.27～0.69)。结论心脏MRI能够全面而准确地诊断LVNC,C/VS比值的测量可能会部分弥补常规诊断标准(N/C)的不足。     

超声心动图及标准化心肌分段法在心肌致密化不全诊断中的应用

目的 探讨超声心动图和标准化心肌分段法在心肌致密化不全诊断中的应用价值.方法 选择2000年8月至2008年8月经我院诊断的心肌致密化不全患者9例,男6例,女3例,年龄2～73岁,总结心肌致密化不全患者的超声心动图特征,并引用美国心脏协会建议的标准化心肌分段法,分析患者病变区域的分布特点.结果 9例患者的超声心动图均显示受累室壁由疏松的肌小梁和其间的深隐窝构成,隐窝内血流与心室腔相通.根据标准化心肌分段法,心尖顶段和心尖段下壁受累9例,心尖段侧壁和中部-心腔段下壁受累7例,中部-心腔段侧壁受累6例.心尖段和中部-心腔段室间隔、基底段下壁和侧壁及右心室心尖部受累均为1例.左心室前壁无受累.结论 超声心动图结合标准化心肌分段法对诊断心肌致密化不全具有重要价值,心尖顶段受累是超声诊断本病敏感而重要的依据之一.     

25例心肌致密化不全病人的超声心动图特征分析

目的探讨超声心动图对心肌致密化不全(NCVM)病人的诊断价值。方法选取2013年10月—2015年10月接受超声心动图检查且诊断为NCVM的病人25例,其中男18例,女7例,年龄25岁~76岁。应用超声心动图实施多切面扫查,于心室舒张末期选择室壁最厚部位测量非致密化心肌厚度与致密化心肌厚度并计算两者比值(N/C),并且记录N/C2的节段数。结果 25例病人中,24例为左心室受累,1例为右心室受累,均观测到过度突出的肌小梁和深陷的小梁间隐窝,且心腔内的血流与肌小梁间的隐窝沟通。病变部位主要是左室心尖部(第17节段,100%)和左室侧壁中间段(第12节段,91%),其次为左室下壁中间段(第10节段,50%)和左室后壁中间段(第11节段,45%),室间隔中段及基底段的心肌结构未见明显异常。结论 NCVM以累及心尖部和左室侧壁中间段较常见,心肌致密化不全病人的超声心动图有明显特征性,是诊断心肌致密化不全的一种可靠检查方法。     

孤立性心肌致密化不全患者左室收缩功能的相关因素分析

目的总结孤立性左室心肌致密化不全（ILVNC）患者的临床资料,并对其左室收缩功能的相关影响因素进行分析。方法连续入选自2006年1月至2010年9月经超声心动图确诊为ILVNC的患者共41例,总结其临床资料,并对可能影响该组患者左室射血分数（LVEF）的因素进行分析。结果 41例患者（男性35例）LVEF均值为31.41±11.21%;最常受累的心肌节段是心尖部（100%受累）,其次是心尖段外侧壁（92.7%受累）、心尖段下壁（82.9%受累）和心尖段前壁（70.7%受累）。相关性分析表明,LogNT-proBNP、左室舒张末内径（LVEDD）和室壁运动评分指数（WMSI）与LVEF均呈负相关,r分别为-0.441（P=0.007）、-0.357（P=0.022）以及-0.714（P=0.000）,具有显著的统计学意义;受累节段数目和NC/C比值则与LVEF无显著相关性;WMSI与受累节段数目呈正相关（r=0.362,P=0.020）,与NC/C比值无显著相关性（P=0.254）。结论 ILVNC患者LVEF左室整体收缩功能与NT-proBNP及LVEDD呈负相关,而与受累心肌节段数目、NC/C比值无明显关联。     

心肌致密化不全患者心肌收缩运动同步性研究

目的 利用定量组织速度成像(quantitative tissue velocity imganig,QTVI)技术分析探讨心肌致密化不全患者的心肌收缩同步性运动情况.方法 采集18例心肌致密化不全患者(NVM组)和30例健康对照组的常规二维图像,启动组织多普勒(DTI)程序,获取标准心尖位左心室长轴观、两腔观和四腔观共3个切面的QTVI图像.分别描绘左心室侧壁、后间隔、前壁、下壁、前间隔和后壁等6个室壁的基底段及中间段共12个节段的组织速度曲线.测量左心室12个节段的QRS波起始点至各节段收缩期达峰时间(Q-Ts),计算48例检查者左心室12个节段的Ts最大差值(Max-△Ts).结果 NVM组和健康对照组相比,左心室各壁基底段Q-Ts均明显长(P均<0.001),且以左心室侧壁、后壁、下壁延迟为重;左心室各壁中间段Q-Ts均明显长(P均<0.001),且以左心室下壁、侧壁、后壁延迟为重.NVM组左心室12个节段的Max-△Ts为(161.9±93.2)ms,显著大于正常对照组的(61.2±27.4)ms,P<0.001.结论 左心室心肌致密化不全患者存在心肌收缩运动的不同步性.且左心室各壁中间段Q-Ts最延迟的部位依次为下壁、侧壁、后壁,有别于既往文献报道的其他原因所致心力衰竭时左心室各壁中间段Q-Ts最延迟的部位依次为侧壁、后壁、下壁.     

肥厚型心肌病患者临床特征及肥厚节段分析

目的 对肥厚型心肌病患者临床特征及其受累肥厚节段的分布和程度进行分析.方法 连续收集2004年3月至2007年3月225例临床诊断或可疑的肥厚型心脏病患者的临床资料,包括症状、体征、心电图检查及超声心动图检查等.所有患者均接受心脏核磁共振检查.依据9节段分析法分析受累节段范围、程度等.结果 肥厚型心肌病患者中男163例,女62例,平均年龄(50.4±14.5)岁.28例肥厚型心肌病患者临床无症状,系通过体检发现.197例肥厚型心肌病患者临床症状明显,其中11例伴发晕厥.216例肥厚型心肌病患者心电图异常,73例患者有明确家族史.126例肥厚型心肌病患者可闻及收缩期杂音.超声心动图发现95例患者合并左心室流出道梗阻,32例患者伴发二尖瓣关闭不全.肥厚型心肌病患者合并高血压50例,合并冠心病14例,合并糖尿病5例.225例患者左心房前后径平均为(39.4±8.3)mm,左心室舒张末期横径平均为(47.8±5.5)mm.依据9节段分析法,32.1%的节段受累.非对称性肥厚患者222例,其中室间隔受累198例,对称性肥厚患者3例.心尖受累67例,其中单独心尖受累24例.98例患者室间隔和左心室前壁同时受累.所有室间隔肥厚患者室间隔平均厚度为(23.0±5.2)mm.其中伴发左心室流出道梗阻患者室间隔平均厚度为(24.3±5.3)mm,高于无梗阻患者(21.6±4.6)mm,P＜0.05.所有心尖肥厚患者心尖平均厚度为(15.6±3.4)mm.结论 我国肥厚型心肌病患者男性比例较高,临床发病时间较晚.心脏磁共振能很好地评估肥厚型心肌病各个亚型的病理解剖学特征,是准确诊断肥厚型心肌病的有效方法.     

影像学在左心室心肌致密化不全诊断中的价值

左心室心肌致密化不全(left ventricular noncompaction,LVNC)是一种新近认识的先天性心肌病,在形态学上表现为心壁内层肌小梁粗乱呈海绵状,主要累及左心室心尖部及其邻近的游离壁,深陷的小梁隐窝与左心室腔相通.     

左心室心肌致密化不全心肌病的研究进展

左心室心肌致密化不全心肌病(LVNC)以突出的骨小梁、小梁隐窝以及左室心肌等表达紊乱为特点,主要表现为左室心尖处不正常的肌小梁形成,可合并左心室扩张,伴收缩、舒张功能不全,或合并各种形式的先天性心脏病,并会导致左心室、右心室或双心室的心力衰竭。本文就LVNC病的发病机制、流行病学、临床表现、诊断、治疗和预后进行综述。     

New classification scheme of left ventricular noncompaction and correlation with ventricular performance

Isolated left ventricular noncompaction (LVNC) is an increasingly-recognized cardiomyopathy, and the possibility that it exists as a spectrum of disease has yet to be explored. We sought to determine the prevalence, spectrum, and functional consequences of LVNC; 2 blinded reviewers assessed 500 transthoracic echocardiograms for LVNC for adequate study quality, absence of co-existing cardiomyopathy, and LVNC. If present, the ratio of the maximum linear length of noncompacted to compacted myocardium (NC/C) and the planimetered area of LVNC on apical 4-chamber view were measured. Patients were classified by degree of noncompaction measured by either the NC/C ratio or LVNC area as controls, mild, moderate, and severe; 380 patients were included in the analysis and 60 (15.8%) had evidence of noncompaction. Patients with increasing severity of noncompaction had significantly decreased ejection fractions. In conclusion, these findings indicate that LVNC may be more common than previously recognized and may exist as a spectrum, which can be classified using the NC/C ratio or LVNC area classification schemes.     

Disappearance of left ventricular hypertrabeculation/noncompaction and sudden death in a patient with Turner mosaic syndrome

Left ventricular hypertrabeculation/noncompaction is associated with various neuromuscular and other rare genetic disorders. In a 53-year-old man with a Turner mosaic karyotype, regression of left ventricular hypertrabeculation/noncompaction was documented by cardiac magnetic resonance imaging and echocardiography after 7 years. During that time, coronary 3-vessel disease and severe left ventricular dys function developed, necessitating coronary bypass surgery. Postoperatively, left ventricular systolic function recovered to an ejection fraction of 40%. The patient died suddenly 6 months postoperatively. In conclusion, the disappearance of left ventricular hypertrabeculation/noncompaction was most likely due to scar formation.     

Left ventricular noncompaction associated with hypertrophic cardiomyopathy: Echocardiographic diagnosis and genetic analysis of a new pedigree in China

Background

Hypertrophic cardiomyopathy (HCM) and left ventricular noncompaction (LVNC) are both genetically determined and familial diseases that possess variable but overlapping genetic defects. Previous literature has mostly reported their occurrences as either separate disorders in different members of a family or coexisting entities in sporadic cases rather than familial cases. This study explored the echocardiographic diagnostic values and familial features in a family with coexistence of HCM and LVNC.

Methods

A four-generation family comprised of 30 members was studied; 28 members underwent familial screening by routine transthoracic echocardiography (TTE), contrast echocardiography (CE), and/or cardiac magnetic resonance imaging (cMRI). Echocardiographic and cMRI findings were then compared.

Results

Four members (13.3%) died of sudden death or heart failure. Eleven members (39%) suffered from HCM, LVNC or both. There were 13 left ventricular hypertrophic segments among the echocardiographic images of 9 locally archived patients, including septal, inferior and anterior wall segments (8, 3, 2 respectively) as well as 20 noncompaction segments, including lateral, apical, anterior, antero-septal and inferior wall segments (8, 5, 4, 2, 1 respectively). Left atrial dilatation and diastolic dysfunction were significant in these subjects. Findings from TTE and CE were in accordance with those from cMRI in lesion locations. CE provided more information about noncompaction segments located in the antero-septum and near field than TTE.

Conclusions

HCM and LVNC coexist in one Chinese family, with overlapping phenotypes and different ages, clinical manifestations and multimodality imaging findings. TTE is an excellent tool to diagnose HCM and LVNC with supplementation by CE.     

Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction

Though left ventricular hypertrabeculation/noncompaction (LVNC) is frequently associated with mitochondrial DNA (mtDNA) mutations, it has not been reported in association with the transition m.3308T>C of the NADH dehydrogenase subunit 1 (ND1) gene. The index patient is a 16-year-old Tunisian female who was investigated for a systolic murmur and cardiomegaly. Echocardiography revealed tricuspid insufficiency, moderate left ventricular dilatation, Ebstein's anomaly, a superior caval vein draining into the coronary sinus and, surprisingly, LVNC of the apex and the lateral wall. LVNC was absent in all other cardiologically investigated siblings. RNA and mtDNA sequence analysis revealed the known homoplasmic mutation m.3308T>C resulting in the replacement of the first amino acid methionine by threonine in the ND1 subunit of respiratory chain complex I. The m.3308T>C mutation was also present in the patient's mother and several other family members but absent in 350 controls. Additionally, the index patient carried the polymorphisms m.8248A>G in the COX2 gene and m.8468C>T in the ATP8 gene. It is concluded that LVNC may be associated with the known homoplasmic m.3308T>C mutation in the ND1 gene. However, the pathogenetic role of this mutation in the development of LVNC remains elusive.     

Sudden cardiac death in isolated right ventricular hypertrabeculation/noncompaction cardiomyopathy

Hypertrabeculation/noncompaction of the myocardium is a rare disorder that involves most commonly the left ventricle of the heart and it has been recognized as a distinct cardiomyopathy by the World Health Organization. However, it is extremely rare for this condition to involve exclusively the right ventricle. We report the cases of three patients who presented with ventricular tachyarrhythmia and sudden cardiac death. They were found to have isolated right ventricular hypertrabeculation/noncompaction on echocardiography. This supports the hypothesis that this condition is highly arrhythmogenic and is associated with high mortality similarly to the left ventricular hypertrabeculation/noncompaction cardiomyopathy.     

A Rare Association of Left Ventricular Diverticulum and Noncompaction: Continuum of Common Developmental Abnormality?

A previously healthy 16‐year‐old girl presented with history of fever of 3 months duration without any significant clinical finding on examination. Transthoracic echocardiography (TTE) revealed moderate pericardial effusion and later diagnosed as tubercular in etiology. Besides, TTE also showed an incidental finding of large left ventricular (LV) diverticulum in submitral region along the postero‐basal segment and left ventricular noncompaction (LVNC). Nonapical LV diverticulum is a rare variant of this uncommon congenital condition and its association with LVNC has not been reported in literature. Patient was discharged on antitubercular therapy for pericardial effusion and advised for 6 monthly follow‐up for diverticulum.