Endocardial fibroelastosis and infantile polycystic disease

A child with infantile polycystic disease who developed cardiac failure from endocardial fibroelastosis is described. Endocardial fibroelastosis has been reported in adult type polycystic disease in childhood. Endocardial fibroelastosis should be suspected in a child with polycystic disease who develops unexplained cardiac failure.     

Endocardial fibrosis and hydrops fetalis in a premature infant

We describe a premature neonate with endocardial fibrosis associated with hydrops fetalis. The infant did not have any other cardiac disorder and expired with congestive heart failure when five days old. Endocardial fibroelastosis has been previously described in neonates but is rare and is usually associated with other cardiac malformations. In only two previous reports was endocardial fibroelastosis associated with hydrops and in both of these cases there were also valvular deformities. We also discuss the possible significance of this association.     

Neonatal Atrial Fibrillation After Surgical Repair of Tracheoesophageal Fistula With Esophageal Atresia

Atrial fibrillation is rare in childhood that had not been reported in neonates with normal cardiac morphology and function. The authors present a newborn who underwent surgical repair of a tracheoesophageal fistula with esophageal atresia at the age of 2 days and experienced atrial fibrillation 16 days after the procedure. A report of 35 pediatric patients in a single center over a period of 22 years identified atrial fibrillation in children with a variety of ailments including congenital cardiac anomalies before and after corrective surgery, rheumatic valve disease, Marfan's syndrome with mitral regurgitation, infective endocarditis, cardiomyopathy, endocardial fibroelastosis, paroxysmal atrial tachycardia of infants, and cardiac tumors [2]. All these patients had underlying cardiac disease.     

Nephrocalcinosis in a child with autosomal dominant polycystic kidney disease and a prolapsing ectopic ureterocele

Although autosomal dominant polycystic kidney disease commonly presents in adults, it can occur in children. Usually, renal calcification in patients with autosomal dominant polycystic kidney disease is manifested as calculi or as hemorrhage into a renal cyst. An ectopic ureterocele is a well-known finding in patients with renal duplication. To our knowledge, this is the first case report of a child who had combined findings of autosomal dominant polycystic kidney disease, nephrocalcinosis, and an obstructing ectopic ureterocele.     

Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy

We describe two female infants with Hurler syndrome (mucopolysaccharidosis I) whose deaths are attributed to cardiac failure with associated, autopsy-confirmed endocardial fibroelastosis. One infant had confirmed alpha-L-iduronidase deficiency in cultured dermal fibroblasts, and the other infant had histologic evidence of tissue mucopolysaccharide accumulation at autopsy and a sibling with confirmed alpha-L-iduronidase deficiency and the Hurler syndrome phenotype. Clear cells ("Hurler" cells) were identified within the myocardium and endocardium of both infants. We propose that the ventricular mural accumulation of mucopolysaccharides induced extensive proliferation of elastic or collagen fibers within the endocardium. Cardiac failure may precede recognition of clinical and roentgenographic features of Hurler syndrome. Our findings and a literature review suggest that certain heritable storage disorders, including mucopolysaccharidosis I, should be considered when infants have clinical electrocardiographic and echocardiographic findings consistent with endocardial fibroelastosis or have autopsy-documented endocardial fibroelastosis.     

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目的 探讨小儿左冠状动脉起源于肺动脉(ALCAPA)所致心脏扩大病例的误诊原因,总结诊断经验.方法 回顾性分析1996年7月至2009年1月广东省心血管病研究所22例小儿ALCAPA所致心脏扩大的误诊病例.均行心电图、X线胸片、超声心动图检查,8例行心脏CT检查,14例行心导管检查及造影,21例进行了外科手术治疗.结果 ≤1岁患儿10例中,6例误诊为心内膜弹力纤维增生痘,3例误诊为扩张型心肌病,1例误诊为先天性二尖瓣脱垂并关闭不全.>1岁患儿12例中,4例误诊为扩张型心肌病,3例误诊为心内膜弹力纤维增生症,2例误诊为先天性二尖瓣脱垂并关闭不全,1例误诊为右冠状动脉右心室瘘,1例误诊为川崎病,1例误诊为动脉导管未闭.结论 小儿ALCAPA所致心脏增大病例容易误诊为心内膜弹力纤维增生症、扩张型心肌病、先天性二尖瓣脱垂等疾病,左冠状动脉起源于肺动脉后方偏右的病例更易误诊.提高对ALCAPA的认识、超声或CT检查中仔细探查冠状动脉及其起源对避免误诊至关重要.     

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.     

Endocardial fibroelastosis: prenatal manifestation of aortic valve stenosis

A diagnosis of fibroelastosis was made in a 33-week-old fetus, based on the echocardiographic features of a marked impairment of left ventricular contractility and hyperechogenicity of the endocardium. Fibroelastosis was associated with an aortic stenosis. There was no evidence of hydrops fetalis. Prenatal detection of this severe congenital heart disease allowed its early management in an intensive care unit. Heart failure due to closure of the ductus required the use of prostaglandin, then a surgical aortic valvulotomy was performed. There was no postoperative problem, and one year after surgery the infant is doing well. His left ventricular contractility is normal, and echocardiographic features of fibroelastosis are no more present. Prenatal diagnosis, use of prostaglandin and increasing safety of neonatal cardiac surgery have improved the prognosis of this serious association.     

Association of bilateral renal dysplasia and congenital hepatic fibrosis

A young baby with jaundice and failure to thrive was found to have severe chronic renal failure and chronic cholestatic liver disease. She was the first child of healthy unrelated parents and died at the age of three months. Autopsy revealed bilateral renal dysplasia and congenital hepatic fibrosis. This particular association of kidney and liver disease has only rarely been observed. It must be differentiated from autosomal recessive polycystic liver and kidney disease.     

Rothia dentocariosa sepsis in a pediatric renal transplant recipient having post-transplant lymphoproliferative disorders

BACKGROUND: Rothia dentocariosa (RD) is a Gram-positive rod that colonizes the human oral cavity and can cause infective endocarditis. RESULT: We report on a six-yr-old boy who underwent renal transplantation for polycystic kidney disease at the age of eight months. He developed post-transplant lymphoproliferative disorders after four yr and progressive graft failure. Following chemotherapy, the patient presented with neutropenia and sepsis. RD was isolated from blood and treatment with piperacillin/tazobactam was initiated; however, the child died because of multiorgan failure. DISCUSSION: To the best of our knowledge, this is the first case of RD sepsis in a pediatric solid organ transplant recipient.     

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.     

Juvenile Graves’ Disease with Opthalmopathy,Lymphadenopathy, Accelerated Growth and Congestive Cardiac Failure

Graves’ disease in childhood is a rare clinical entity. The authors report a case of Graves’ disease in a 3-year-old child, who had opththalmopathy, accelerated growth, cervical lymphadenopathy, hepatosplenomegaly and congestive cardiac failure; and responded well to treatment.     

Nonimmune Hydrops Fetalis in the Liveborn: Series of 32 Autopsies

Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among 429 neonates who underwent autopsies (incidence 7.45%). Sixteen cases (50%) had cardiovascular disease; all were due to low output cardiac failure; 7 had structural congenital heart disease. Three of the children with congenital heart disease also had chromosomal abnormalities: 2 had trisomy 18 and 1 had Noonan syndrome. Among myocardial conditions were five subjects with cardiomyopathies (1 of each of the following types): oncocytic, dilated, endocardial fibroelastosis, cardiac glycogenosis, and carnitine deficiency; 3 had myocarditis, and 1 had cardiac rhabdomyomas. Congenital infections were due to cytomegalovirus in 3 cases, bacteria in 2, and parvovirus in 1. The mechanism of NIHF in these cases might be a combination of decreased myocardial contractility due to myocarditis and fetal anemia. Genitourinary diseases were present in 5 newborns: Two had congenital nephrotic syndrome, 1 had VACTER association, 1 had prune-belly syndrome, and 1 had urogenital sinus malformation. Intrathoracic lesions were found in 2 babies (pulmonary sequestration and diaphragmatic hernia). One twin died of volume overload due to twin transfusion syndrome. Only 2 newborns were classified as idiopathic. Our study shows that cardiovascular diseases that lead to heart failure or impaired venous return are more common in the liveborn (50%), whereas congenital infections are more common in the stillborn with NIHF.     

Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation

Barth syndrome (BTHS) is associated with myocardial disease, frequently left ventricular noncompaction cardiomyopathy, which may necessitate cardiac transplantation or lead to death in some patients. We report a child with BTHS who had an ??undulating cardiac phenotype?? and ultimately developed decompensated heart failure requiring mechanical circulatory support with a ventricular assist device as a bridge to transplantation. His course was complicated by acute lung injury requiring placement of an in-line oxygenator to maintain end-organ function. Not only was his course complicated by cardiac and respiratory failure but his BTHS associated comorbidities complicated the management of his therapy using mechanical assist device support. He was successfully supported and subsequently was transplanted. Here we discuss the management of a child with BTHS using mechanical circulatory support and describe the use of an in-line oxygenator, Quadrox, with the Berlin Excor device.     

Congenital hepatic fibrosis with saccular dilatation of intrahepatic bile ducts and infantile polycystic kidneys

A case report is presented of a child who died in the neonatal period and who had the sonographic findings of multiple, tubular, fluid-filled spaces in the liver characteristic of Caroli's disease. There was an echodense renal cortex and pyramids. Necropsy findings were consistent with Caroli's disease but the liver also showed evidence of congenital hepatic fibrosis and there was infantile type polycystic disease of the kidneys.     

Echocardiography of intracardiac filling defects in infants and children

Summary Intracardiac masses are rare in infants and children. Early detection is essential to their successful management. We present seven patients in whom echocardiography established the diagnosis and was crucial in the management. Three of the masses were primary cardiac tumors and four were thrombi.Patient 1: an infant with a calcified left ventricular fibroma.Patient 2: a neonate who presented with cyanosis due to obstruction of the right ventricular inflow tract by a fibroblastic tumor.Patient 3: an infant with a right atrial myxoma presenting as sepsis.Patient 4: a child who had a pulmonary embolus after a pulmonary valvotomy and was found to have a right ventricular thrombus.Patient 5: a child with a right atrial thrombus following a Fontan procedure for univentricular atrioventricular connection.Patient 6: a child with a left ventricular thrombus due to a dilated cardiomyopathy in association with epidermolysis bullosa.Patient 7: An infant with bilateral lobar emphysema, an aorticopulmonary window with left ventricular fibroelastosis, who developed a left ventricular thrombus.     

AUTOPSY FINDINGS IN THE WOLCOTT-RALLISON SYNDROME

Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. To date, nine cases have been described in the world literature. We report an affected girl who died at the age of 4 years and on whom a full autopsy was performed. In addition to neonatal diabetes mellitus and epiphyseal dysplasia, this child had mental retardation and recurrent episodes of self-limiting hepatic failure. Autopsy revealed severe pancreatic hypoplasia and markedly abnormal pancreatic histology, while histology of the bone was consistent with epiphyseal dysplasia. There was laryngeal stenosis and pulmonary hypoplasia. The heart was enlarged with mitral valve dysplasia and stenosis, left atrial dilatation, left ventricular hypertrophy, and endocardial fibroelastosis. Examination of the central nervous system showed arrhinencephaly and cerebellar cortical dysplasia. The liver showed minor histological abnormalities but no features were present to account for the recurrent hepatic failure. In addition to Wolcott-Rallison syndrome this child had a deletion at 15q11-12 in 65 of her cells.     

Early Detection of Anomalous Origin of Left Coronary Artery from the Right Pulmonary Artery After Successful Repair of Critical Coarctation of the Aorta

Left ventricular (LV) function is impaired by increased afterload in neonates with severe coarctation of the aorta, which may result in endocardial fibroelastosis. Repair of the coarctation usually solves the problem, with LV function normalizing after a few weeks. This report describes a patient who underwent successful repair of critical coarctation with normalization of LV function despite signs of endocardial fibroelastosis but with persisting elevation of cardiac troponin T. Cardiac catheterization showed the rare coincidence of anomalous origin of left coronary artery from the right pulmonary artery (ALCAPA) and coronary sinus orifice atresia with left superior vena cava.     

婴幼儿先天性心脏病并心内膜弹力纤维增生症的临床特点

目的研究婴幼儿先天性心脏病(CHD)并心内膜弹力纤维增生症(EFE)的临床及实验室特点,诊断和治疗。方法对本院收治婴幼儿CHD并EFE患儿的临床及实验室检查资料进行回顾性分析、总结。结果3166例CHD中21例(0.66%)并EFE,其中动脉导管未闭(PDA)5例,房间隔缺损(ASD)6例,室间隔缺损(VSD)6例,PDA VSD 1例,ASD VSD 2例.法洛四联症1例。临床有不同程度心力衰竭,多伴肺炎,心脏增大较明显,起病绝大多数较急,病情多较重.预后较差。结论CHD是引起EFE的原因之一,但不除外其他原因尤其是病毒感染导致EFF;疾病预后可能与心脏扩大程度、心力衰竭程度、并发症严重程度及治疗及时与否有关。     

Familial nonobstructive cardiomyopathy with endocardial fibroelastosis beyond infancy.

A 10-year-old boy with congestive heart failure died in five months in spite of comprehensive medical treatment. Autopsy showed patchy areas of endocardial fibroelastosis of the left ventricle. The sister of this patient had followed a similar course at 13 years of age with death within six months of the onset of congestive failure. Her postmortem examination also showed endocardial fibroelastosis. The clinical presentation of familial endocardial fibroelastosis in the preteen and teenage years is a rare event. Probably the endocardial fibroelastosis was secondary to a familial nonobstructive cardiomyopathy.