Left ventricular pannus causing inflow obstruction late after mitral valve replacement for endocardial fibroelastosis

A case of mitral stenosis following mitral valve replacement in a patient with endocardial fibroelastosis is reported. A 14-year-old boy presented with cardiac failure. He had been diagnosed as having endocardial fibroelastosis at the age of 7 months and had undergone resection of endocardial fibrous tissue in the left ventricle at that time. Five years later his mitral valve was resected owing to mitral stenosis, with Bjork-Shiley valve replacement. Cross-sectional echocardiography on this admission showed restrictive left ventricular inflow due to a thickened immobile prosthetic valve with severely dyskinetic left ventricle (ejection fraction 8%). The electrocardiogram showed atrioventricular reentry tachycardia. Despite direct current cardioversion and continual amiodarone infusion he suffered a cardiac arrest and died 12 days after admission. Postmortem examination showed left ventricular endocardial fibroelastosis with severe inflow obstruction due to the formation of a complete fibrous ring of pannus/fibrosis around the prosthetic margin on the ventricular aspect of the left ventricle. This complication has not previously been described in children after mitral valve replacement.     

Histopathologic evidence for cardiomyopathy in a child with mitral valve prolapse

An intriguing relationship between idiopathic mitral valve prolapse (MVP) and cardiomyopathy has been reported in adult cases of MVP. This paper reports a girl with idiopathic MVP, who presented with progressive cardiomegaly and cardiomyopathic findings on cardiac biopsy; right ventricular endomyocardial biopsy at the age of 15 years showed myocardial hypertrophy, disarray, myocardial degeneration, interstitial fibrosis and endocardial thickening. To our knowledge, this is the first case of idiopathic MVP in childhood that has been shown to have positive biopsy findings for cardiomyopathy.     

室间隔缺损修补术后少见并发症的超声心动图诊断病例系列报告

目的： 探讨室间隔缺损(VSD)修补术后少见并发症的超声心动图诊断要点。 方法：通过查询北京安贞医院（我院）超声影像报告系统及病案管理系统获取病例信息,纳入2013年1月至2018年4月在我院诊断或随访的VSD修补术后少见并发症的连续病例,术后时间不限,使用Philips IE33彩色多普勒超声诊断仪,选择S5-1探头,频率1~5 MHz。VSD修补术后少见并发症由我院经验丰富的医生确诊,并经团队医生共同确认。 结果：符合本文纳入标准的VSD修补术后少见并发症34例,男19例,女15例,年龄4个月至25岁,平均（4.7±5.9）岁。28例为术后左室-右房通道（LVRAC）形成,3例为术后主动脉瓣穿孔并主动脉瓣反流,1例为术后LVRAC形成合并主动脉瓣穿孔,2例为术后主动脉-左房通道形成。34例患者中6例接受外科手术矫治,5例LVRAC患者在随诊过程中自行愈合,其余23例患者继续随访观察中。LVRAC超声心动图表现：①心尖及剑突下四腔心切面显示三尖瓣隔瓣与二尖瓣前瓣之间回声中断,缺损位于三尖瓣环上方;②彩色多普勒显示从左室至右房的异常分流信号;③连续多普勒记录到收缩期高速射流频谱。主动脉瓣穿孔超声心动图表现：①左心室长轴及大动脉短轴切面显示无冠瓣或右冠瓣局部回声中断;②彩色多普勒显示源自瓣叶裂孔处的主动脉瓣反流。主动脉-左房通道超声心动图表现：①彩色多普勒显示从主动脉至左房的异常分流信号,左心室长轴、大动脉短轴及五腔心切面均可显示;②连续多普勒记录到双期连续性高速射流频谱。 结论：多切面扫查及密切结合血流频谱特点,可以明确VSD修补术后异常分流信号的诊断。     

Coronary Blood Flow by Transthoracic Echocardiography in Children with Endomyocardial Fibrosis

We report herein the coronary flow (CF) pattern determined by transthoracic Doppler echocardiography (TTDE) in two children with biventricular endomyocardial fibrosis (EMF). Endomyocardial biopsy showed various degrees of cardiac fibrosis in both patients as well as signs of chronic inflammation in one of the patients. TTDE showed a significant increase in CF in both the left anterior descending coronary artery and the posterior descending coronary artery compared with age-matched healthy controls. The diastolic flow in patients with EMF appeared to terminate earlier than in controls. The mechanisms and the potential significance of these novel findings are discussed.     

Clinicopathologic Characteristics of Hypertrophic Cardiomyopathy Detected During Mass Screening for Heart Disease

Between 1981 and 1992 a total of 10 patients with hypertrophic cardiomyopathy (HCM) were detected by mass screening for heart disease in Tokyo's Adachi Ward. Four were first grade elementary school children and six were first grade junior high school adolescents. Two-dimensional echocardiography at the initial evaluation revealed asymmetric septal hypertrophy in four patients, diffuse hypertrophy of the left ventricle in five, and poor left ventricular contractility with wall thinning in one (dilated phase). Three of the five patients with diffuse hypertrophy progressed to asymmetric septal hypertrophy during the average 4-year follow-up period. The degree of septal thickness and the left ventricular wall thickness index were significantly less than in those of young adult controls (12 ± 3 versus 21 ± 9 mm, p < 0.05; and 22 ± 4 versus 28 ± 16 mm, p < 0.05, respectively). Right ventricular endomyocardial biopsy specimens obtained from 9 of the 10 patients showed features typical of HCM (e.g., myocyte hypertrophy with myofibril disarray) in five patients and atypical features (mainly interstitial fibrosis with perivascular cell infiltration) in another four. One patient with dilated phase disease died of congestive heart failure 6 months after the initial evaluation. These results indicate that HCM detected during mass screening is a mild form of the disease and may have atypical pathologic features, such as interstitial fibrosis and perivascular cell infiltration, mimicking the sequela of chronic myocarditis.     

Value of the echocardiographic findings of arrhythmogenic right ventricular dysplasia with left ventricular involvement in a child

A 9-year-old girl was admitted because she had had palpitations for 2 years. Her electrocardiogram revealed multifocal ectopic beats with left bundle branch morphology, sinoatrial block, and first- and second-degree atrioventricular blocks. Cross-sectional echocardiography demonstrated an enlarged left ventricle and filling defects and sacculations of the posterior left ventricular wall, apex, and septum. The diagnosis of arrhythmogenic right ventricular dysplasia (ARVD) was confirmed by endomyocardial biopsy and thallium 201 scintigraphy. We present this case because of the rarity of left ventricular involvement associated with ARVD. We also emphasize the value of echocardiography in the early diagnosis of ARVD.     

Histopathologic aspects of endomyocardial biopsy in pediatric patients with idiopathic ventricular tachycardia

PURPOSE: The present study aimed to investigate the clinicopathologic findings and histopathologic characteristics of endomyocardial biopsy in pediatric patients with idiopathic ventricular tachycardia. METHODS: Histopathological findings of endomyocardial biopsy from 17 patients aged 7-15 years with idiopathic ventricular tachycardia (VT) but no organic heart disease were examined. Patients considered to have cardiomyopathy of the dilated, hypertrophic or specific form or arrhythmogenic right ventricular cardiomyopathy were excluded from this study. RESULTS: Advanced histopathologic findings, including myocyte hypertrophy, degeneration, interstitial fibrosis and disarrangement of muscle bundles, were disclosed in three cases (17.6%). One of these cases exhibited sustained VT with left bundle branch block configuration and showed increased frequency of VT during exercise testing. The remaining two cases had non-sustained VT with multifocal origin and had syncope episodes. Another 14 cases showed mild or no significant findings in the biopsy. CONCLUSIONS: These results indicate that advanced histopathology in endomyocardial biopsy is occasionally disclosed in cases of idiopathic VT, especially those of exercise-related VT or multifocal VT, and that these patients may be considered as having heart muscle disease.     

Magnetic Resonance Imaging for Endomyocardial Fibrosis

Magnetic resonance images (MRI) of a pediatric patient with endomyocardial fibrosis secondary to idiopathic hypereosinophilic syndrome are presented. Previously reported in adults, MRI findings of endomyocardial fibrosis in this case include right ventricular diastolic dysfunction, mild systolic dysfunction and extensive subendocardial delayed contrast enhancement. Right atrial enlargement and organized right ventricular thrombus are also demonstrated.     

先天性左冠状动脉主干闭锁3例超声心动图特征及文献复习

目的 通过研究先天性左冠状动脉主干闭锁（LMCAA）的超声心动图表现,提高对LMCAA诊断的准确性。方法 回顾性分析经冠状动脉造影证实的3例LMCAA患儿的超声心动图检查结果,并复习相关文献,总结LMCAA超声心动图特征。结果 LMCAA特异性超声心动图特征：①主动脉左冠状动脉窦内无左冠状动脉主干开口,左冠状动脉主干近心端闭锁呈盲端,远心端内径细窄,发育不良;②右冠状动脉内径增宽;③多切面未显示左冠状动脉与肺动脉确切连接的证据。LMCAA非特异性超声心动图特征：①左心室明显扩大,左室收缩功能可正常或减低;②二尖瓣腱索、乳头肌回声显著增强,可伴有二尖瓣脱垂。彩色多普勒超声特征： ①收缩期二尖瓣口可见中至大量反流信号;② 左、右冠状动脉之间形成细小侧支循环; ③左冠状动脉前降支和回旋支血流为逆向灌注（向心性）;④发育不良的左冠状动脉虽然在肺动脉周围分布,但彩色多普勒超声不能显示其与肺动脉连接的确切逆灌血流信号。结论 LMCAA有特异性的超声心动图特征,提高对LMCAA的全面认识是诊断本病的关键。     

Cardiac involvement in congenital acquired immunodeficiency syndrome

Cardiac abnormalities have been reported in 25% to 73% of adult patients with acquired immunodeficiency syndrome (AIDS). We are reporting the clinical course of a child with congenital AIDS who developed similar cardiac complications. He presented with congestive heart failure three months after the diagnosis of AIDS. He had cardiomegaly demonstrated on chest roentgenogram, which was previously normal. He had left ventricular hypertrophy and T-wave abnormalities on electrocardiography and left ventricular dysfunction and dilatation on echocardiography. His subsequent echocardiogram continued to show poor contractility, although his congestive symptoms were stabilized with digitalis therapy and diuresis. After a year of maintenance therapy with digitalis, he developed right ventricular and right atrial enlargement and tricuspid valve thickening and nodularity, similar to the valvular changes reported in adults. Thus, children with AIDS should be monitored for cardiac complications.     

Septal aneurysm with associated anomalies

A 15-year-old boy had a history of a functional systolic murmur with systolic and diastolic murmurs and radiological evidence of left ventricular hypertrophy. The angiocardiogram demonstrated an aneurysm of the membranous septum, bicuspid aortic valve, dilatation of the left subclavian artery and left common carotid artery. Echocardiography showed a holosystolic prolapse of the mitral valve with mitral insufficiency and a bicuspid aortic valve with insignificant incompetence of the aortic valve. Classical TM mode echocardiography did not show an aneurysm of the membranous septum.     

Acquired tricuspid incompetence in children: pitfalls in the clinical diagnosis of its aetiology

Pitfalls in the clinical diagnosis of the aetiology of acquired tricuspid incompetence in children were exemplified in five patients. In three of them acute staphylococcal endocarditis, the cause of the valve defect, was obscured during life by co-existing sickle cell haemoglobinopathy, acute leukaemia and rheumatic mitral valvulitis, respectively. The fourth and fifth patients had clinical features suggestive of right ventricular endomyocardial fibrosis but necropsy revealed that the tricuspid incompetence was caused by dilated cardiomyopathy and constrictive pericarditis respectively. This series illustrates the need to suspect bacterial endocarditis if a child presents with signs of infection and valvular incompetence, and also dispels the widespread belief that pericardial constriction does not cause tricuspid incompetence.     

Myocardial infarction in a neonate with left-sided congenital diaphragmatic hernia

We present a case study of a newborn girl with a left-sided congenital diaphragmatic hernia and a myocardial infarction (MI). The occurrence of MI in newborns has been associated with cardiac malformations and abnormalities of the coronary arteries or thromboembolization. In our patient, echocardiography revealed left ventricular dysfunction, persistent pulmonary hypertension and an inferolateral MI. Within 24 hours cardiac function and oxygenation did not improve and the baby died. Autopsy showed massive MI, a small aortic valve and ascending aorta, and hypoplasia of the distal aortic arch and isthmus. An accessory spleen was also present. The present report underlines the importance of cardiac evaluation in patients with congenital diaphragmatic hernia.     

Cross-sectional echocardiography in hypoplastic left ventricle: Echocardiographic—angiographic—anatomic correlations

Summary Although M-mode echocardiography has become a valuable tool in the noninvasive diagnosis of hypoplastic left ventricle (HLV), it may not resolve all diagnostic uncertainty. This study compares the findings of M-mode echocardiography, cross-sectional echocardiography, and autopsy in a group of 20 infants with HLV. M-mode echocardiograms alone were obtained in eight infants; five of these children underwent cardiac catheterization, and six underwent autopsy. Cross-sectional echocardiograms were obtained in the remaining 12 infants; two of these underwent cardiac catheterization, and all 12 underwent autopsy. Cross-sectional examinations were performed with either a high-resolution mechanical sector scanner or a sequentially scanning linear array. Short-axis views were used for left ventricular size and shape and for aortic root, pulmonary artery, and ductus size; suprasternal notch views were used for imaging the aortic arch and subxiphoid views for the atrial cavities. In all 12 infants the findings from cross-sectional echocardiography closely matched those of autopsy with respect to degree of hypoplasia of the mitral valve, the left ventricular cavity, and the left ventricular outflow tract. If the diameter of a valve orifice exceeded 3 mm at autopsy, patency of the valve could be diagnosed from the cross-sectional echocardiogram. The findings when M-mode echocardiograms alone were done less closely matched the autopsy findings, and in five of the eight cardiac catheterization was judged necessary to resolve remaining diagnostic uncertainty. This study found that cross-sectional echocardiography provided an accurate noninvasive diagnosis of the spectrum of anatomy found in HLV and had fewer pitfalls than M-mode echocardiography.     

Effectiveness of Angiotensin-Converting Enzyme Inhibitors in Pediatric Patients with Mid to Severe Aortic Valve Regurgitation

The long-term benefit of angiotensin-converting enzyme inhibitors in pediatric patients with aortic valve regurgitation is under consideration. Eighteen patients with mid to severe aortic valve regurgitation were retrospectively evaluated. Echocardiographic parameters (left ventricular end-diastolic diameter, shortening fraction, left ventricular posterior wall thickness, and grade of aortic valve regurgitation) were analyzed before and during therapy with angiotensin-converting enzyme inhibitors. Data are given as standard deviation scores (Z-scores) derived from body surface-adjusted normal values. Median (interquartile range) age at start of therapy was 8.4 (5.4 to 10.0) years, and total follow-up 2.3 (0.9 to 5.4) years. Left ventricular end-diastolic diameter increased from 3.6 (2.3 to 4.5) to 3.7 (2.4 to 4.8), and left ventricular posterior wall diameter decreased from 1.9 (1.1 to 3.0) to 1.1 (0.5 to 2.3). Grade of aortic valve regurgitation increased from 3.5 (2.3 to 4.0) to 4.0 (2.0 to 4.0), and shortening fraction decreased from 39% (34% to 43%) to 37% (34% to 42%). No significant effect of angiotensin-converting enzyme inhibitors on left ventricular dimensions or function was found in our population of patients with mid to severe aortic valve regurgitation. Angiotensin-converting enzyme inhibitors may not alter left ventricular overload in pediatric patients with aortic valve regurgitation.     

Absent aortic valve: A complex anomaly

Summary Seven patients (four previously cited and three new cases) with absent aortic valve cusps (leaflets), a rare and underrecognized complex congenital heart defect, are discussed. All patients were male, six full-term and one premature with nonimmunologic hydrops. None underwent operation; all died within the first week of life from low cardiac output and hypoxemia.In most instances, the only remnant of the aortic valve was a nonobstructive fibrous ridge; occasionally, it was accompanied by rudimentary leaflets or sinuses of Valsalva. Absent aortic valve was associated with other significant structural malformations in all instances, including atrioventricular valve atresia, hypoplasia or dysplasia, less commonly double outlet right ventricle, abnormal pulmonary venous connection, or left ventricular endomyocardial abnormalities. Recognition of this unusual lesion is important since it is associated with other complex malformations, causes hypoxemia (for which early positive pressure ventilation is indicated), and could be possibly palliated using the right ventricle as the systemic ventricle.     

Isolated Left Ventricular Noncompaction in a Newborn With Pierre-Robin Sequence

Pierre-Robin sequence or syndrome (PRS) (OMIM #261800) is characterized by a small mandible (micrognathia), posterior displacement/retraction of the tongue (glossoptosis), and upper airway obstruction. It has an incidence varying from 1 in 8,500 to 1 in 30,000 births. Congenital heart defects (CHDs) occur in 20 % of the patients with PRS. Ventricular septal defect, patent ductus arteriosus, and atrial septal defects are the most common lesions. Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. It is thought to be caused by arrest of the normal endomyocardial morphogenesis. Isolated left ventricular noncompaction (LVNC) in patients with PRS has not been reported previously. This report describes a newborn with PRS and isolated LVNC. Previously, LVNC has been reported in association with mitochondrial disorders, Barth syndrome hypertrophic cardiomyopathy, zaspopathy, muscular dystrophy type 1, 1p36 deletion, Turner syndrome, Ohtahara syndrome, distal 5q deletion, mosaic trisomy 22, trisomy 13, DiGeorge syndrome, and 1q43 deletion with decreasing frequency. Karyotype analysis of the reported patient showed normal chromosomes (46, XX), and a fluorescent in situ hybridization study did not show chromosome 22q11.2 deletion. This is the first clinical report of a patient with isolated LVNC and PRS. Noncompaction of the ventricular myocardium is a rare and unique disorder with characteristic morphologic features that can be identified by echocardiography. Long-term follow-up evaluation for development of progressive LV dysfunction and cardiac arrhythmias is indicated for these patients.     

Aborted sudden cardiac death in a child with left ventricular non‐compaction

Left ventricular non‐compaction is a rare form of cardiomyopathy believed to be the result of intrauterine arrest of compaction of the endomyocardial morphogenesis, leading to persistence of the embryonic myocardium. Clinical manifestations are highly variable, ranging from no symptoms to a progressive deterioration in cardiac function that results in congestive heart failure, systemic thromboemboli, arrhythmias, and sudden cardiac death. Presented here is the case of a 4‐year‐old child with a history of aborted sudden cardiac death. Following resuscitation, he was admitted to the intensive care unit with neurologic sequelae that regressed later on. Transthoracic echocardiography and magnetic resonance imaging showed numerous prominent trabeculations and deep intertrabecular recesses at the apical and anterolateral region of the left ventricle. Electrophysiologic study showed polymorphic ventricular tachycardia. An implantable cardioverter–defibrillator (ICD) was implanted following clinical recovery. Five months after implantation, appropriate ICD shock due to ventricular fibrillation was documented.     

Morphologic Analysis of Common Atrioventricular Valves in Patients with Right Atrial Isomerism

The objective of the study was to examine the relation between the morphology of the common atrioventricular valve and regurgitation of the valve in patients with right atrial isomerism. We examined seven consecutive patients with documented right atrial isomerism who subsequently underwent postmortem examination during a 10-year period. The degree of regurgitation and the diameters of the common valve were evaluated via cineangiography, and the site of regurgitation was evaluated by echocardiography. The morphology of the common atrioventricular valve was assessed further at autopsy. Cineangiography revealed valve diameters ranging from 14.8 to 27.8 mm (mean 20.9 mm). Valvar regurgitation was revealed within 2 months of birth in all patients. Regurgitation abruptly worsened in three patients after placement of a Blalock–Taussig shunt or a central shunt and postintubation. Autopsies revealed that the common atrioventricular valve consisted of four leaflets in five patients, and three leaflets in two. The anterior leaflets were large and protruding in all patients, and the lateral leaflets were thickened in six. All patients had a mass consisting of the left lateral leaflets and chordae with direct attachment of the chordae to the ventricular muscle (the right lateral leaflet was attached to the ventricular muscle and immobile in one patient). The lateral leaflets clung to the ventricular wall and exhibited poor movement in six patients. Leaflets with poor mobility corresponded to the regurgitant valvar site as assessed by echocardiography in six patients; and the regurgitation in three patients with acute deterioration occurred at the valvar side with poor mobility. It is concluded that the common atrioventricular valve in patients with right atrial isomerism has morphologic characteristics that may be associated with valvar regurgitation and malignant potential for abrupt deterioration after replacement of systemic–pulmonary shunting.     

心肌致密化不全合并弥漫性冠状动脉右室瘘1例

目的：探讨心肌致密化不全合并弥漫性冠状动脉瘘的临床特点及诊断方法。方法：报告1例心肌致密化不全合并弥漫性冠状动脉右室瘘患儿,回顾其临床症状、辅助检查结果和治疗方案。在国外数据库（Pubmed、OVID和Elsevier）和国内数据库（万方和维普）中检索心肌致密化不全合并冠状动脉瘘和心肌病合并冠状动脉瘘病例的文献,检索时间为建库至2017年3月30日。总结此类病例的临床表现、诊断和治疗。结果：本文患儿为6月龄女婴,因“胃纳差伴盗汗2周”于2013年10月12日在上海交通大学医学院附属上海儿童医学中心心内科就诊。二维超声心动图显示,左心室增大伴左室致密化不全、左右冠状动脉扩张、右心室内心肌窦状间隙持续状态、二尖瓣中度返流、心室收缩功能低下等。心导管造影及冠状动脉造影检查显示,右冠状动脉及左前降支弥漫性微小右心室瘘、二尖瓣返流、左心室增大。予地高辛、速尿、安体舒通后患儿症状稍好转。国外数据库中检索到2例心肌致密化不全合并冠状动脉左室瘘的成年病例,以进行性呼吸困难和心前区疼痛为主要临床表现,心肌缺血表现更明显,诊断主要依靠二维超声心动图及心导管造影和冠状动脉造影检查,缺乏有效治疗手段;有部分心肌病合并心肌致密化不全患者接受选择性冠状动脉瘘介入封堵术的尝试。结论：心肌致密化不全合并冠状动脉瘘是一类罕见的先天性心脏发育异常疾病,婴儿临床症状主要为纳差、盗汗等心功能不全的表现,确诊主要依靠二维超声心动图以及心导管造影、冠脉造影检查,目前尚缺乏有效治疗手段,以强心、利尿、扩血管改善心功能治疗为主。