左室心肌致密化不全研究进展

左室心肌致密化不全(left ventricular noncompaction,LVNC)是一种罕见且病因不明的心肌病,以突出的肌小梁和深陷的隐窝为主要病理表现,是儿童三大心肌病之一。LVNC存在多种不同的遗传模式,如X连锁隐性遗传、常染色体显性遗传、线粒体遗传等。一些编码肌节或细胞骨架蛋白的基因突变也被证明与LVNC相关。作为一种合并了致命性心律失常、心力衰竭及血栓栓塞等严重并发症的心脏综合事件,LVNC主要通过超声心动图、心脏磁共振等检查来明确诊断。尽早完善遗传学检测,对直系亲属进行筛检,对高危患者密切随访,早期处理各项并发症,将有助于提高患者生存质量并改善预后。     

心肌致密化不全25例

目的 总结小儿心肌致密化不全(NVM)的临床特征,以提高对该病的认识及诊治水平.方法 回顾性分析2005年1月- 2010年12月在本院住院的25例NVM患儿的临床表现、心脏彩超、ECG等辅助检查结果及治疗、随访情况.结果 25例患儿中有心功能不全表现者19例(76％);有心律失常者7例(28％),其中室性快速心律失常4例(16％);均未发现心内膜血栓形成.25例患儿彩色多普勒超声心动图均见典型的NVM改变,左心室受累23例(92％),右心室受累2例(8％);心脏扩大24例(96％),左心室射血分数＜50％ 20例(80％).住院前误诊为扩张型心肌病(DCM)3例,心内膜弹力纤维增生症(EFE)1例.随访0.4 ～5.6a,6例患儿死于顽固性心力衰竭,1例患儿猝死,4例失访.结论 小儿NVM的临床表现多以心功能不全及室性快速心律失常为主,极少形成心内膜血栓.小儿NVM易误诊为DCM、EFE等,彩色多普勒超声心动图在该病的诊断及鉴别诊断中具有重要价值.小儿NVM尚缺乏有效的治疗方法,预后差.     

心肌致密化不全

~~心肌致密化不全~~     

儿童心肌致密化不全

心肌致密化不全(NVM)是一种少见的先天性遗传性心肌病,以心腔内异常粗大的肌小梁和小梁间深陷的隐窝为特征。其临床表现多样且无特异性,以心功能不全、心律失常、血栓形成为主要特征。超声心动图和心脏磁共振成像在NVM诊断中具有重要意义。治疗上主要是对症治疗,内科治疗无效者可行心脏移植。本病预后差异大,病死率高,但无症状者预后相对较好。     

小儿心肌致密化不全11例

目的分析小儿心肌致密化不全(NVM)的临床特征。方法对1999年10月～2006年10月在本院诊断和治疗11例NVM患儿临床表现、心电图和心脏彩超结果、误诊情况、治疗及随访结果进行综合分析和总结。结果11例中7例NVM以心功能不全为主要表现,3例主要表现为心律失常;8例有收缩期杂音;2例心肌酶谱升高;10例心电图异常,表现为心肌缺血6例;胸部X线检查示5例心脏扩大;均经心脏彩超确诊,其中左心室病变9例、右心室病变1例、双心室均病变1例;5例并其他心脏畸形;随访(30.12±10.66)个月,5例死于顽固性心力衰竭,5例应用地高辛治疗有效,1例右室病变者无症状。结论NVM临床表现多样,易误诊;彩色多普勒超声心动图是NVM的主要诊断手段;NVM预后差,以左心室病变者为甚。     

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。     

左心室心肌致密化不全突变基因的研究进展

左心室心肌致密化不全(left ventricular noncompaction,LVNC)是由于胚胎初期心内膜及心肌细胞发育停止而引起的一种相对罕见心肌病,因该病主要累及左心室而得名.LVNC是散发性或家族性遗传疾病,具有明显的遗传异质性,它以X连锁及常染色体显性遗传.LVNC的遗传学特点为非单一性遗传,其致病基因及突变位点表现多样.现已经证明LVNC与多个基因突变密切相关,且与诱发其他心肌病的基因发生基因重叠.该文将对LVNC相关突变基因的研究进展作一综述.     

孤立性心肌致密化不全一例

患儿女 ,4岁 10个月。因心律失常安装室内除颤器入院。患儿第 1胎第 1产 ,足月顺产 ,产前胎儿超声检查发现心功能降低 ,疑及肌部室间隔缺损。生后 1ｄ超声检查示左心室壁中至重度增厚 ,呈海绵样改变 ,轻度左室功能降低。给予地高辛口服 ,门诊随访。患儿 6个月时 ,无诱因哭闹、烦躁 ,进而青紫 12ｈ ,在当地门诊心电图检查诊断为室性心动过速 ,急诊入院。入院时患儿面色青紫 ,心律不齐 ,血压 96 / 34ｍｍＨｇ (1ｍｍＨｇ =0 133ｋＰａ) ,心电图示间断心动过速 ,室率 2 5 0～ 2 70次 /ｍｉｎ ,遂停用地高辛 ,改用利多卡因 7ｍｇ静脉滴注 (简称…     

A case of right coronary artery to left ventricle fistula: Two-dimensional echocardiographic study

Summary A 12-year-old boy with a decrescendo diastolic murmur maximal at the lower right sternal border was suspected of having a coronary arteriovenous fistula. Cardiac catheterization and angiography revealed a right coronary artery to left ventricle fistula with marked dilatation of the right coronary artery.This is the thirteenth case of this anomaly reported in the literature. Characteristic two-dimensional echocardiographic features of this case are presented. A markedly dilated right coronary artery was revealed by two-dimensional echocardiography to take a normal right coronary artery course and empty into the posteromedial portion of the left ventricle.This case indicates the possibility of visualizing a dilated peripheral portion of the right coronary artery using two-dimensional echocardiography.     

Left coronary to right ventricle fistula in a child: management strategy based on cardiac-gated 64-slice CT

Congenital coronary fistulae are a diagnostic challenge. A prerequisite for best management is accurate anatomical evaluation, traditionally provided by invasive catheter angiography. Multislice CT (MSCT) is an emerging noninvasive technique for coronary artery evaluation. We present a 3-year-old boy and highlight the clinical usefulness of new-generation MSCT to study coronary artery fistulae in children. Multiplanar and 3-D reconstruction offer invaluable information to plan the best therapeutic strategy in this setting. We provide evidence for the expanding clinical role of MSCT for coronary artery imaging in children.     

Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy

A boy with multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy is described. Light microscopy of biopsy samples from the skeletal muscle and myocardium revealed multiple cores in the muscle fibers in the former but their absence in the latter. These results suggest that the pathogenesis of the histologic changes might differ between skeletal muscle and myocardium, and that further electron microscopic examination be done on both types of specimen. The prognosis of multicore myopathy is not usually good when cardiac involvement is present.     

Transcatheter embolization of coronary artery fistula with controlled release coils

ABSTRACT The treatment for large congenital coronary cameral fistulas has been surgical but with advances in interventional catheterization techniques transcatheter embolization of these fistulas with coils or detachable balloons is now possible. This report describes occlusion of a congenital coronary arteriovenous fistula in a 6-year-old girl.     

Spectrum of hearts with one underdeveloped and one dominant ventricle

Summary Hearts with one underdeveloped and one dominant ventricle form a spectrum of anomalies extending from the heart with two clearly adequate chambers to those with a true single ventricle. An angiographic concept of grouping such hearts is presented. 129 patients with unequal ventricles underwent catheterization and cineangiography between 1974 and 1983. The age at first catheterization ranged from one day to 24 years (mean 3.9 years). Male-female ratio was 2:1. Five groups of hearts (with their relative frequencies in the spectrum) were established: (1) dominant left ventricle (53%); (2) dominant right ventricle (20%), each with normally related chambers; (3) dominant left ventricle (20%); (4) dominant right ventricle (3%), each with ventricular inversion; (5) true single ventricle (5%). The incidence of atrial anatomy, venous return, intracardiac connections and associated lesions within each group was assessed. From the standpoint of deranged physiology as well as surgical implications there are more similarities than differences among these hearts. The fact that one ventricle will not generate an adequate stroke volume after repair is overwhelmingly more important than most other considerations. For the diagnostic and surgical approach, we believe that the system offers many advantages.     

Long-Term Support with Milrinone Prior to Cardiac Transplantation in a Neonate with Left Ventricular Noncompaction Cardiomyopathy

A 2-week-old female infant presented with acute decompensated left ventricular failure. Echocardiography diagnosed left ventricular noncompaction cardiomyopathy with dilated phenotype and a left ventricular shortening fraction <10%. The infant was mechanically ventilated for 2 weeks and then successfully extubated. She was maintained on intravenous milrinone for 6 months until she underwent successful orthotopic heart transplantation. Young children can be supported with inotropes for prolonged periods while awaiting heart transplantation.     

Successful percutaneous closure of a coronary artery fistula with a detachable balloon

Precutaneous transcatheter closure technique of a coronary artery fistula with a detachable balloon was performed for a 14 year old male student. Complete closure of the fistula without any complications was confirmed by angiography after the procedure. When the patient underwent a second angiography 6 months after the closure, it was confirmed that the position of the balloon had not changed, that the interruption of the flow of the fistula had been maintained and that the diameter of the left coronary artery and the fistula were reduced. Percutaneous closure technique using a detachable balloon may become the primary treatment for a coronary artery fistula in place of surgical ligation.     

A child with undifferentiated sarcoma of the liver complicated with bronchobiliary fistula and detected by hepatobiliary scintigraphy

Undifferentiated (embryonal) sarcoma of the liver (USL) is a rare malignant mesenchymal tumor principally affecting patients of pediatric age. Bronchobiliary fistula is a very rare complication in patients with liver tumor. To the authors' knowledge, this is the first report of a bronchobiliary fistula resulting from tumor invasion in a child with liver sarcoma. A 12-year-old boy was diagnosed to have USL of the right liver lobe, invading the diaphragm. An extended right hepatectomy and total resection of the mass was performed, leaving patchy tumoral invasion of the anterior diaphragmatic surface followed by combined chemotherapy regimen. Six months after the operation, the presence of bilious sputum suggested a bronchobiliary fistula, which was confirmed by hepatobiliary scintigraphy. The patient underwent a right thoracotomy and fistula division. Although bronchobiliary fistula is a very rare complication in patients with hepatic tumors, suspicion in the appropriate clinical setting is necessary to recognize this problem. Hepatobiliary scintigraphy is the useful diagnostic procedure to define bronchobiliary fistula in children with liver tumor and clinical suspicion of bronchobiliary fistula.