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.     

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。     

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.     

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??Abstract?? Objective??To explore the clinical features of noncompaction of the ventricular myocardium??NVM?? in 123 children. Methods??Clinical manifestation?? electrocardiogram?? chest X-ray and echocardiogram of 123 patients as well as 31 cases of cardiac catheterization and 24 of cardiac CT of NVM were studied. Results??Among 123 patients?? 50 suffered from chest discomfort?? short breath and much sweat?? 110 were cardiac dilatation?? and a decrease of the intensity of heart sounds was found in 30 children?? 65 coexisted with cardiac abnormalities??104 patients had ST-T change on electrocardiogram. Cardiac arrhythmia was found in 29 cases?? 98 cases of cardiothoracic ratio > 0.5 were noticed in chest X-ray. Echocardiograph examination showed that numerous prominent ventricular trabeculations and deep intertrabecular recesses were presented in ventricle. Characteristic changes of image in cardiac catheterization and cardiac CT were found as well. Conclusion??Clinical features of NVM in children are a depressed cardiac function and arrhythmia?? an infrequency of systemic embolization with a higher rate of coexistence of cardiac abnormalities. Echocardiography is a reliable promising diagnostic tool for NVM.     

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目的探讨儿童心室肌致密化不全的临床特点。方法2002年9月至2004年11月新乡医学院第三附属医院心内科4例男性心室肌致密化不全患者,年龄5～14岁。均采用东芝PV6000,vivid7彩色多普勒超声心动图仪进行检查,探头频率2～4MHz。结果4例均出现不同程度心功能不全和心律失常,未见栓塞。超声心动图均可见多发突入心室腔内的肌小梁和与心室腔交通深陷的小梁间隙。结论儿童心室肌致密化不全是一种少见的先天性心肌病,易合并其他心脏畸形。临床主要表现为心功能不全和心律失常。超声心动图是可靠的诊断方法。     

Isolated noncompaction of left ventricular myocardium with fetal sustained bradycardia due to sick sinus syndrome

Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy resulting from an arrest in normal endomyocardial embryogenesis. This disease is characterized by numerous and prominent trabeculations and deep intertrabecular recesses. It may be isolated or associated with other congenital heart diseases. The disorder is clinically accompanied by depressed ventricular function, systemic embolization and arrhythmias. Sustained bradycardia is infrequent in prenatal life and associated with maternal collagen vascular diseases, structural heart diseases or long QT syndrome. Herein we report a case of isolated noncompaction of left ventricular myocardium diagnosed in the first day of life and followed previously by serial fetal echocardiograms for the sustained sinus bradycardia. On postnatal electrocardiography, there was junctional escape rhythm due to profound sinus bradycardia, leading us to consider sick sinus syndrome. To our knowledge, this is the first case in the literature of isolated noncompaction of left ventricular myocardium with sustained bradycardia due to sick sinus syndrome.     

Hypersensitivity pneumopathies ("bird fancier's lung") in children. Diagnostic value of bronchoalveolar lavage

A current view of "pigeon fancier's lung" in children is reported through a familial case presenting as a severe denutrition in a 9 year-old boy. Cellular and biochemical analysis of broncho-alveolar lavage fluid is essential to proper diagnosis. Treatment is based upon the eviction of inhaled antigenic organic materials issued from pigeon's droppings, corticosteroid treatment being only additional. Pulmonary fibrosis is a rare but possible complication in the outcome of the disease.     

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.     

Severe protracted diarrhea in infancy ("intractable diarrhea")

In most cases, protracted diarrhea in infants is due to lack of human breast milk, and iatrogenic malnutrition. Damage to the mucosa of the small intestine maintained by cow's milk proteins and malnutrition constitute main parts of a vicious circle interrupted by completely parenteral nutrition for some time, and slow reintroduction of human breast milk. This kind of therapy reduced mortality significantly. The best prophylaxis is the full support of breast feeding. As differential diagnosis the familial lethal diarrhea of the breast fed infant has to be considered. Furthermore, in case of diarrhea lasting for longer than two weeks, other less frequent causes have to be thought of, as pointed out briefly.     

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。     

Isolated non-compaction of the ventricular myocardium

Isolated non-compaction of the ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by numerous, excessively prominent ventricular trabeculations, probably due to arrest of normal endomyocardial embryogenesis. We report two cases of isolated non-compaction of the ventricular myocardium.The first patient had a brother who died in the first year of life after heart transplantation due to refractory heart failure caused by restrictive biventricular cardiomyopathy associated with a right ventricular diverticulum. This could have been a case of isolated non-compaction of the ventricular myocardium that was not diagnosed. The patient, who is 8 years old, is asymptomatic and echocardiogram (ECG) showed multiple prominent ventricular trabeculations in the apical portion of the left ventricle, slightly depressed systolic and diastolic function and restrictive ventricular filling pattern.The second patient is a 7-year-old boy who presents recurrent syncopes. ECG showed multiple prominent ventricular trabeculations, restrictive ventricular filling pattern and normal systolic function. The Holter ECG recording showed multiple premature ventricular complexes and nonsustained ventricular tachycardia. An implantable subcutaneous Holter recorder was inserted, which was associated with an episode of aborted sudden death and polymorphic ventricular tachycardia followed by asystole. The patient was then treated with an implantable defibrillator.     

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。