左心室肌致密化不全3例报告

例1,女,3月。因烦躁,青紫16h于2000年2月12日入院。体查：面色青紫,心前区无隆起,心律不齐,心音低钝,无杂音。Holter示阵发性室性心动过速,心室率220～258次／min,左心室肥大,ST-T波改变。胸部X线示心脏扩大,心胸比值0．6。超声心动图（UCG）示左心明显增大。左室壁肌小梁增粗增大,呈网状结构,以下壁、后壁、后侧壁为著,收缩期肌小梁深度后壁9mm,后侧壁7mm,彩色多谱勒（CDFI）示深陷于肌小梁隐窝内的血流与左室腔相通,肺动脉压37mmHg。     

Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction

We report a case of a 6-week-old male who was admitted to the hospital for respiratory distress. An echocardiogram revealed a poorly functioning left ventricle with an ejection fraction of 18% and dilated cardiomyopathy with noncompaction of the left ventricle. A muscle biopsy was performed to identify the cause of his cardiomyopathy, which revealed succinate dehydrogenase deficiency. The patient was medically managed for dilated cardiomyopathy and eventually died due to congestive heart failure.     

Myocardial noncompaction: report of three cases

Myocardial noncompaction is a rare type of cardiomyopathy which can be an isolated entity or in association with other congenital heart diseases. We present three children with myocardial noncompaction: one male with isolated left ventricular noncompaction, another with right ventricular noncompaction and dysplastic tricuspid valve, and the last with left ventricular noncompaction, ventricular septal defect and coarctation of aorta, to stress especially the different clinical forms of the disorder and the importance of early diagnosis, as it may result in a fatal outcome.     

Isolated noncompaction of the ventricular myocardium

Isolated noncompaction of the ventricular myocardium is a recently described anomaly. We report the first case of this anomaly presenting as a restrictive cardiomyopathy, and the first association of this entity with endocardial fibrosis.     

Isolated noncompaction of the ventricular myocardium

Noncompaction of the ventricular myocardium is a rare congenital disorder characterized by the presence of numerous prominent trabeculations and deep intertrabecular recessess which communicate with the left ventricular cavity. The disease uniformly affects the left ventricle, and sometimes also affects the right ventricle. Echocardiographic findings are important clues for the diagnosis. Clinical symptoms include signs of left ventricular systolic dysfunction even to the point of heart failure, ventricular arrhythmias, and embolic events. We describe an illustrative case of isolated noncompaction of the left ventricular myocardium in a two-year-old child with the typical clinical and echocardiographic features of the disease. The literature on the topic is reviewed.     

新生儿心肌致密化不全一例

患儿,男,1 d,主因"呼吸急促半天"入院.患儿系第1胎第1产儿,胎龄39~(+1)周自然分娩出生,有胎心型宫内窘迫,无生后窒息,入院前半天出现呼吸急促,无呻吟、吐沫,无发热、惊厥,吃奶可,尿量少.     

儿童心肌致密化不全6例临床表现及基因变异分析

该文总结分析儿童心肌致密化不全（NVM）的临床和基因变异特点。6例NVM患儿起病年龄3个月至12岁,男4例,女2例,心律失常5例,心功能不全3例,精神差1例,胸闷、叹气1例。4例患儿检测到NVM相关基因变异,其中MYH7基因变异2例,PRDM16基因变异1例,ACTN2基因+TNNT2基因变异1例。心功能改善4例;2例患儿心功能改善不明显,其发病年龄小,超声心动图示收缩功能降低更明显,心肌酶、氨基末端脑钠肽前体升高更明显。NVM是引起儿童慢性心力衰竭的重要原因之一,对于首发有胸闷、叹气、心律失常、心影增大、心肌酶增高明显的患儿,进行超声心动图、心脏磁共振检查,可确诊NVM,NVM可有多种基因变异。     

Left ventricular noncompaction in an infant: use of non-ECG-gated cardiac CT

We report an infant who had left ventricular dysfunction of unknown etiology and was diagnosed with left ventricular noncompaction by non-ECG-gated cardiac CT. This relatively rare diagnosis, an unclassified cardiomyopathy, was confirmed by retrospective review of echocardiography on which the diagnosis had initially been missed. As in echocardiography, CT was capable of delineating the characteristic two-layered myocardium of the left ventricle with the most severe involvement of the apical segment.     

心室肌致密化不全的超声心动图诊断

目的 采用超声心动图对心室肌致密化不全(NCVM)进行诊断,阐明其超声心动图特征。方法 将2006 年5 月至2015 年5 月接受超声心动图检查、且诊断为NCVM 的患儿53 例纳入研究,其中男28 例,女25 例,首次诊断年龄为15 d 至18 岁。采用经胸二维超声心动图和彩色多普勒进行定性诊断,于胸骨旁心室短轴切面观测量舒张末期疏松部/致密部(N/C)比值作为定量诊断标准。结果 在53 例患儿中,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。NCVM 累及的部位主要是心尖部(100%)和左室侧壁中间段(98%),其次为左室后壁中间段(49%)和左室下壁中间段(42%)。53 例NCVM 患儿中,N/C 比值为4.3±1.9(2.1~10.0)≥ 2。心功能不全占83%(44/53),这些患儿的左室射血分数为43%±9%。结论 超声心动图可以对NCVM 进行定性和定量诊断,并对其心功能进行评价。NCVM 以累及心尖部和左室侧壁中间段较常见,且常伴有左室射血分数减低。     

儿童心肌致密化不全5例临床分析#br#

目的：分析心肌致密化不全(NVM)患儿的临床特点。方法回顾性分析5例心肌致密化不全患儿的症状、超声心动图、胸部X线、心电图以及治疗和随访资料。结果5例患儿中,男3例、女2例,年龄3月~12岁;4例以支气管肺炎,心力衰竭入院,5例患儿均有胸部X线心影增大;心脏二维超声示心肌致密化不全累及心尖部2例,累及左心室室壁和室间隔3例;1例伴有先天性部分心内膜垫缺损。5例患儿均无血栓栓塞表现。5例患儿随访3～36月,存活3例,死于顽固性心衰1例,失访1例。结论儿童NVM的主要临床表现为心力衰竭,超声心动图仍是最主要的诊断方法;对于顽固的肺炎心衰心力衰竭应该考虑到NVM的可能。     

Extent of myocardial noncompaction: comparison between MRI and echocardiographic evaluation

Background: Noncompaction of the left ventricular myocardium is an important cause of cardiomyopathy. There is no clear consensus about its diagnostic criteria or the diagnostic test of choice. MRI is increasingly used in the pediatric cardiac field because of its superior and objective image quality. Objective: To compare the echocardiographic and MRI findings in four patients with recently diagnosed ventricular noncompaction. Materials and methods: We compared the extent of myocardial involvement shown at MRI and echocardiography in four individuals, two patients with echocardiographic diagnosis of left ventricular noncompaction, and two family members of one of the patients. Results: In all patients, MRI showed wider area of involvement than echocardiography. A definite diagnosis was entertained in only two patients by echocardiography but in all by MRI. Cine imaging was diagnostic of the disease in all patients. Black-blood pool imaging with double-inversion recovery sequence also helped to visualize the abnormal areas by showing slow flow artifacts in the four- and two-chamber images. Conclusion: MRI provided better delineation of the extent of the abnormal trabeculation in patients with noncompaction of the left ventricular myocardium. It was particularly useful when the myocardial involvement was subtle, as in the asymptomatic family members.     

主动脉缩窄合并左心收缩功能不全8例报告

主动脉缩窄(coarctation of aorta,COA)是一种并不少见的先天性心血管畸形,约50%合并其他先天性心脏畸形,临床表现主要取决于梗阻的严重程度及合并的其他心脏畸形。有报道合并有充血性心力衰竭的COA如不进行手术治疗,第一年死亡率达84%[1]。而该病手术纠治后心功能可得到明显的改善,所以临床工作中对COA合并左心收缩功能不全、射血分数(EF)降低者应加以警惕。现将近两年经二维超声心动图、MRI及心血管造影确诊的85例COA中伴有左心收缩功能明显下降的8例重度COA患儿的临床资料总结如下。1临床资料1.1临床资料2003年7月～2005年5月上…     

儿童心肌致密化不全的临床表现及预后

心肌致密化不全是一种与基因相关的遗传性心肌病,以心室内异常粗大的肌小梁和交错的深隐窝为特征.心肌致密化不全病因及发病机制不清.心肌致密化不全临床少见,预后较差.该文就儿童心肌致密化不全的临床表现及预后进行阐述,加深对儿童心肌致密化不全的认识,提高临床诊治水平,提高患者生存质量,延长患儿生存期.     

小儿心肌致密化不全的临床表现及其超声心动图诊断

目的 探讨儿童心肌致密化不全(NVM)的临床表现及超声心动图诊断的临床意义.方法 对2002-08-2005-11深圳市儿童医院超声心动图9 238例次中确诊45例儿童NVM的超声心动图资料进行回顾分析.结果 超声心动图确诊NVM 45例,患病率为0.48%(45/9 238),男29例,女16例,男女比为1.81,年龄3日龄至8岁,平均年龄2.21岁.孤立型31例,非孤立型14例.孤立型临床表现心前区收缩期Ⅱ～Ⅲ/Ⅵ级杂音6例,X线平片见心影增大3例,室性早搏1例,心衰3例,无临床表现28例.非孤立型临床表现癫(癎)2例,紫绀4例,心衰9例,非孤立型14例中合并有先天性心脏病9例,心内膜弹力纤维增生症3例,心脏错构瘤2例.超声心动图示左室型36例(87%),右室型3例(6.7%),双室型6例(13%);随访死于心衰5例(5/45,病死率11%).结论 婴幼儿及儿童心肌致密化不全并非罕见,在先天性心脏病中发生率较高,且易导致小婴儿心衰,临床表现与NVM的大小范围有关,孤立型患儿早期多无临床表现,超声心动图特征性声像图对早期诊断、评价心脏功能、判断预后有重要临床意义.