Value of Autopsy in Nonimmune Hydrops Fetalis: Series of 51 Stillborn Fetuses

Nonimmune hydrops fetalis (NIHF) is used to describe fetuses and newborns with generalized edema and cavity effusions. It is helpful to alert physicians about the presence of anemia, heart failure, and/or hypoproteinemia, but this diagnosis is frequently overlooked. We reviewed the autopsy files from 1990 to 2000, selected all cases with NIHF including clinical information (with maternal laboratory tests and ultrasound), and classified patients by etiology. Among 840 stillborn autopsies during the 11-year period, we found 51 with NIHF (6.07%). The clinical summary had mentioned hydrops in 14 patients and the etiology in another 7 by fetal ultrasonography, but without addressing the possibility of hydrops. In the remaining 30 cases neither hydrops nor an etiology was mentioned. Other pertinent diagnoses were maternal diabetes mellitus (4), congenital heart disease (3), and cystic hygroma (2). The following diagnoses were made in one instance each: cardiac tumor, twin transfusion syndrome, congenital adenomatoid malformation, syphilis, Turner syndrome, and cerebral arteriovenous malformation. Postmortem and placental examination confirmed the following etiologies: congenital infections (17); placental pathology significant enough to explain NIHF (10); cardiovascular diseases (8) (further classified as congenital heart disease [3], rhabdomyoma [1], and vascular malformations [4]); chromosomal abnormalities (6); uncontrolled maternal diabetes (4); intrathoracic lesions (2); prune-belly syndrome (2); and idiopathic NIHF (2). Only 3.9% of the cases studied had no identifiable etiology. The cause of hydrops was confirmed by autopsy in 47 fetuses (92%), which further supports the importance of performing an autopsy. Thirty-two cases (62.74%) had placental abnormalities helpful to the etiology (parvovirus, syphilis, Turner's syndrome, etc.). In 20 instances, the clinical summary had no mention of either hydrops or any of the diseases leading to it. The autopsy in conjunction with placental examination and fetal ultrasound represent the best combination to determine the etiology of NIHF among stillborn fetuses.     

Myocarditis and coronary dilatation in the 1st week of life: neonatal incomplete Kawasaki disease?

Acute heart failure in the early neonatal period is rare. Normally it is due to asphyxia, severe septicaemia, a congenital heart malformation or a viral myocarditis. Kawasaki disease (KD) as a cause of an neonatal myocarditis is not an established diagnosis. KD is a vasculitis of still unknown origin occurring predominantly in infants and preschool children. KD before the age of 3 months is rare. There are only few reports about KD in the 1st month. We present a newborn who showed the cardiac symptoms of KD in the 1st week of life with coronary dilatation and myocarditis. Conclusion The diagnosis of incomplete KD should be considered not only in infants but also in newborns with signs of myocarditis and coronary abnormalities. Therapy with gammaglobulins may prevent the sequelae of coronary involvement. Received: 29 April 1997 / Accepted: 21 November 1997     

非免疫性胎儿水肿新生儿的临床特征及预后分析

目的 分析非免疫性胎儿水肿（NIHF）新生儿的临床特征、病因及转归情况。方法 回顾性分析23例NIHF新生儿的临床资料及转归。结果 23例NIHF患儿中,早产儿18例（78%）,足月儿5例（22%）;出生窒息12例（52%）,其中重度窒息6例。NIHF病因包括双胎输血综合征（TTTS）8例（35%）,心血管畸形3例（13%）,微小病毒B19感染3例（13%）,先天性乳糜胸2例（9%）,Turner综合征1例（4%）,柯萨奇病毒感染1例（4%）,病因不明5例（22%）。临床治愈13例（57%）,死亡10例,新生儿期病死率为43%。死亡组中早产儿、新生儿窒息、5分钟Apgar评分<8分及心力衰竭比例（分别为100%、100%、60%、60%）明显高于存活组（分别为62%、15%、8%、8%）（P < 0.05）。结论 NIHF新生儿易发生出生窒息;胎龄越小、窒息程度越重、合并心力衰竭者新生儿期死亡风险越大。TTTS中受血儿是NIHF的主要病因。     

Nonimmunologic hydrops fetalis: a clinicopathological study of 50 autopsy cases

Fifty cases of nonimmunologic hydrops fetalis found in Japanese infants are reported. Nonimmunologic hydrops fetalis is associated with various pathological conditions, twin transfusion syndrome including acardiac monsters, fetal heart diseases, congenital cystic adenomatoid malformation, pulmonary sequestration, pulmonary lymphangiectasia, intrauterine infections such as cytomegalovirus infection and neonatal hepatitis, congenital neuroblastoma, Kasabach-Merritt syndrome, cystic hygroma, and chromosomal aberrations. The mechanism of hydrops fetalis found in these conditions is discussed from various viewpoints. Despite a careful examination, no causative conditions were found in 14 cases. The placenta showed a proliferation of Hofbauer cells that were strongly positive for immunoreactive alpha 1-antichymotrypsin and there were other common findings such as edema of terminal villi and fibrin thrombi.     

Genetic Study on the Etiology of Congenital Heart Diseases

The etiology of congenital heart disease was studied in 1,076 patients who were diagnosed in our outpatient clinic from September 1, 198 1 to February 29, 1984. In these patients, 9(0.8%) had single gene disorders and 63(5.9%) had chromosomal aberrations, of which 55(87.7%) were Down syndrome. The number of patients who had congenital heart diseases due to environmental insult was 2(0.2%), and those with a malformation syndrome of unknown etiology were 6(0.6%). The etiology of congenital heart diseases in the remaining 996 patients (92.6%) was not clarified. In these cases, the rates of consanguinity of parents, and paternal and maternal grandparents, the ages of the parents when the patients were born, and the number of minor anomalies, were compared with those in normal controls. The complications of major anomalies were also investigated. Further, the recurrence risks in patients' siblings were also calculated.     

Congenital heart disease in Down syndrome: an echocardiographic study.

We evaluated the utility of echocardiography in assessing the frequency and nature of cardiac malformations in children with Down syndrome. Fifty cases of chromosomally proven Down syndrome were studied. A physical examination, electro cardiogram, radiograph of chest and two-dimensional echocardiography was performed on all patients. Twenty-two (44%) children had heart diseases. Endocardial-cushion-defect was the commonest anomaly, followed by ventricular septal defect. Three children with heart disease were asymptomatic and had normal X-ray films of chest and ECGs. The prevalence and specific type of congenital heart disease in this study is comparable to the studies using invasive means for diagnosis. The study further suggests that clinical examination of the cardiovascular system alone may not be sufficient in detecting heart disease. Two-dimensional echocardiography offers an excellent non-invasive tool for diagnosing cardiac malformations in Down syndrome.     

Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome

All pediatric autopsies of patients with hypoplastic left heart syndrome seen during an 11-year interval were reviewed to determine the frequency of underlying chromosomal and single-gene defects and idiopathic major extracardiac anomalies associated with this common, lethal congenital heart abnormality. Of 83 patients identified, nine had underlying chromosomal abnormalities, four had single-gene defects, ten had one or more major extracardiac anomalies without an identifiable chromosomal or mendelian disorder, and two were infants of insulin-dependent diabetic mothers. Overall, 23 patients (28%) had a genetic disorder and/or major extracardiac anomaly. The substantial prevalence of genetic causes of and major extracardiac anomalies associated with hypoplastic left heart syndrome underscores the need for a detailed genetic evaluation for all patients with hypoplastic left heart syndrome.     

儿童T波电交替的临床研究

目的 探讨T波电交替(T-wave alternans,TWA)的病因及预防恶性室性心律失常和心源性猝死的方法.方法 回顾性分析6例心电图TWA阳性患儿诊治的过程.例1为急性重症心肌炎;例2为特发性左室室性心动过速患儿因长时间大剂量使用乙胺碘呋酮后,导致获得性长QT综合征;例3为先天性长QT综合征;例4为先天性心脏病主动脉缩窄纠治术后心肌梗死;例5、例6为心率增快的先天性重度主动脉瓣狭窄.结果 6例均出现心电图TWA,其中5例即时或几小时后出现室性心动过速.2例通过治疗,TWA消失,未出现室性心动过速;另外4例未积极预防室性心动过速的发生而死亡.结论 TWA是室性心动过速、心室颤动及心源性猝死的先兆,应引起临床重视;对于TWA阳性患儿,除了明确病因,积极治疗原发病外,应高度警惕恶性室性心律失常的发生,另外积极预防TWA的出现也尤为重要.     

Nonimmunologic hydrops fetalis--a review of 31 cases

Non-immunologic hydrops fetalis-a review of 31 cases: 31 Patients with non-immunologic hydrops fetalis (NIHF) seen between 1984 and 1987 are described. 13 infants survived. The infants with major congenital malformations and connatal infections died. In 8 of the patients who died a cause for NIHF could not be identified. 10 of the survivors presented chylous ascites and/or chylothorax without major congenital anomalies. 2 infants had fetal tachyarrhythmia and 1 patient showed severe anemia due to fetomaternal hemorrhage.     

Postoperative management of children with biliary atresia and heart failure.

The postoperative course in two children with extrahepatic biliary atresia and cardiovascular disease was reviewed and the correlation between biliary drainage and cardiac function was analyzed. Both patients obtained satisfactory biliary drainage after Kasai's hepatic portoenterostomy. One patient developed heart failure postoperatively due to severe viral myocarditis. This child's total serum bilirubin concentration remained elevated for eight months, despite adequate bilirubin excretion, until her cardiac function returned to normal. Another patient died of cardiac failure due to congenital heart disease 83 days after Kasai's operation, but his postoperative biliary drainage was satisfactory as long as cardiac function remained compensated. In both cases, fluid intake was restricted severely (30 to 70 ml/kg body weight/day), as titrated by echocardiographic assessment of cardiac function, but biliary excretion was satisfactory as long as the cardiac fractional shortening ratio was greater than 30% and the ejection fraction was greater than 55%. This suggests that cardiac decompensation affects postoperative biliary excretion in patients with biliary atresia; however, with careful medical management satisfactory biliary drainage can be achieved even in patients with severe heart diseases.     

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??Objective??To explore the effects and results of temporary cardiac pacing in children with bradyarrhythmia. Methods??The clinical data of 55 children with bradyarrhythmia who received temporary cardiac pacing between June 2007 and May 2018 in Children’s Hospital of Chongqing Medical University were analyzed retrospectively. The clinical characteristics and curative effects were summarized and statistically analyzed. Results??A total of 55 cases of bradyarrhythmia included 29 cases of severe atrioventricular block??AVB????sinus bradycardia or cardiac arrest caused by myocarditis??5 cases of ??°AVB or sick sinus syndrome caused by cardiomyopathy??6 cases of ??°AVB caused by congenital heart disease after surgery??5 cases of congenital ??°AVB??and 10 cases of perioperative temporary pacing ??°AVB. Among them??39 cases were compared in Adams-Stokes syndrome??P??0.003????34 cases were compared in ejection fraction and fractional shortening??P??0.000??P??0.001????and 26 patients were compared in left ventricular end diastolic diameter??P??0.001?? before and after temporary pacing??and there were statistically differences. After treatment??18 cases were clinically cured??36 cases were improved??and 1 case died??among which 45% arrhythmia were improved or recovered??and 10 cases of perioperative children all passed through the anesthesia period. Kruskal-Wallis H(K?? test showed that the clinical and arrhythmia prognosis of different basic cardiovascular diseases were not completely the same??P??0.001??P??0.000???? Mann-Whitney U test indicated a better prognosis in the myocarditis group??P??0.001??P??0.000??. Conclusion??Temporary cardiac pacing can effectively relieve the clinical symptoms of severe bradyarrhythmia caused by various etiologies??promote the recovery of acute conduction system injury??and reduce ??°AVB perioperative risk. Temporary cardiac pacing is a safe and effective prevention and first-aid technique.     

Sick sinus syndrome. Symptomatic cases in children.

In 20 children needing treatment for symptomatic sick sinus syndrome, the average age at presentation was 7.1 years and ranged from 9 months to 18 years. Symptoms were never precise but, in retrospect, 5 children had syncope, 7 had a rapid heart action, 6 had dyspnoea or tachypnoea, 2 had nonspecific chest pains, 2 had pale spells, and 1 had a sudden hemiplegia. Symptoms followed cardiac surgery in 15 cases and were related to unoperated congenital heart disease in 2 and to myocarditis in 2. The aetiology was unknown in 1 case. The type of cardiac surgery resulting in the development of the sick sinus syndrome was predominantly related to atrial suturing. Both tachy- and bradydysrhythmias were found, including wandering atrial pacemaker (9 cases), junctional rhythm (19 cases), supraventricular tachycardia (9 cases), atrial flutter (11 cases), and atrial fibrillation (2 cases). Both atrial (8 cases) and ventricular (7 cases) premature beats were seen. All patients were given trials of drug therapy but difficulties were encountered. Cardioversion was used for tachyarrhythmias in 11 cases without serious problems. Six children had permanent cardiac pacemakers inserted with good results. Recognition of the sick sinus syndrome in childhood is important and treatment must be regulated by the severity of symptoms.     

4 046例染色体检查结果与先天性心脏病关系的回顾性分析

目的探讨染色体异常与先天性心脏病（先心病）的关系。方法回顾性分析复旦大学附属儿科医院1990年1月至2006年12月所进行染色体检查 的患儿中染色体异常的核型种类,并统计先心病患儿染色体的核型特点。结果共检测4 046例患儿的染色体,染色体异常660例（16.3%）,其中 常染色体异常以唐氏综合征最常见（458例,69.4％）;性染色体异常以特纳综合征最常见（105例,15.9%）。接受染色体检查的患儿中先心病 391例,其中染色体异常者185/391例（47.3%）,157/185例核型表现为唐氏综合征, 4/185例核型表现为特纳综合征。先心病中圆锥动脉干畸 形105例,其染色体核型异常发生率较低,仅为16/105例（15.2％）（P<0.05）。染色体核型正常的先心病患儿中,圆锥动脉干畸形和非圆锥动 脉干畸形分别有95和111例。结论染色体核型异常与先心病之间存在密切的相互联系。染色体核型异常易合并先心病;某些先心病患儿的染色体 核型异常发生率明显升高。但圆锥动脉干畸形与常见染色体异常间无密切联系。因此,对于染色体异常患儿应常规进行心脏检查,以及早发现 先心病。另外,尽管某些先心病患儿的普通染色体核型检查未发现异常,但有必要寻找更合适的检测技术提高染色体异常的检出率。     

Clinical features of infants with subependymalgerminolysis and choroid plexus cysts

BACKGROUND: Periventricular cysts are not rare findings in neonates. However, they are sometimes associated with serious clinical complications, such as congenital viral infections and anomalies. METHODS: We performed a retrospective follow-up study on newborns who had periventricular cysts on routine cranial ultrasound examination. RESULTS: We followed 13 infants (three preterm) with periventricular cysts. Ten had single or multiple germinolysis cysts and the remaining three had choroid plexus cysts. All infants had various kinds of underlying complications, including congenital viral infection (two with cytomegalovirus and one with rubella),Sotos syndrome (n = 4), intrauterine growth retardation (n = 5), large-for-dates(n = 4), congenital heart disease (n = 1),myelomeningocele (n = 1) and other minor anomalies. All cases of germinolysis except for one developed a neurodevelopmental abnormality and/or delay. In contrast,all three cases with choroid plexus cysts appeared to develop well,despite the underlying complications. CONCLUSIONS: Germinolysis cysts seem to be associated with systemic diseases and should be treated as a high-risk sign for impaired neurological development.     

Prenatal echocardiographic diagnosis of congenital heart disease: comparison of past and current results

The increased experience in interpretation of fetal echocardiographic images may change the accuracy of fetal echocardiography in diagnosing fetal heart defects. We thus decided to evaluate the specificity and the sensitivity of our fetal echocardiographic examinations in diagnosing congenital heart disease, focusing especially on the outcome of complex cardiac pathologies. Between October 1999 and July 2003, 642 fetuses were followed until birth and underwent a postnatal reassessment of the cardiovascular system in our institution. These cases constitute our cohort. The postnatal reassessment was mainly done by echocardiography; some cases also had angiography. In case of intrauterine or postnatal death, an autopsy was performed. The prenatal and postnatal diagnoses were compared, and specificity and sensitivity of fetal echocardiography for congenital heart pathologies were determined. Among 45 affected pregnancies, 31 cases had complex and 14 had significant cardiac defects. The sensitivity of fetal echocardiography for cardiac anomalies was 93.3%; the specificity was 100%. Compared to our previous study, the sensitivity was remarkably improved (in our previous study sensitivity was 78% and specificity 100%). Echocardiography is a very useful and reliable tool in the evaluation of the fetal cardiovascular system, and has high sensitivity and specificity for congenital heart diseases.     

Diagnosis and Diagnostic Modalities in Pediatric Patients with Elevated Troponin

Care of adults with coronary artery disease focuses on troponins to rapidly move patients to catheterization. Troponins are increasingly drawn in children, but emergent catheterization may not be indicted. We sought to establish etiologies of troponin elevation and ascertain the yield of diagnostic tests, in this population. Retrospective review of patients from January 1, 2002, to December 31, 2011, who had any elevated troponin during the study period. Patients were excluded for recent cardiac surgery, “significant” congenital heart disease, if they were neonates in the NICU or were on ECMO. Twenty-four patients made up our study group: 17/24 (71 %) had myocarditis or cardiomyopathy. Three had coronary-related diagnoses: 1 ALCAPA and 2 Kawasaki syndrome. The most useful testing for making or confirming the diagnoses included ECG, CXR and ECHO. Fourteen had right heart catheterization which was useful in 10/14. Nine had MRI which was useful in 7/9 (all five cases of suspected myocarditis). Left heart catheterization was completed in 10/24 cases, but in no case made or changed the diagnosis. This study confirms that children with elevated troponins differ from adults. The most common cause is myocarditis or cardiomyopathy, whereas coronary-related ischemia is rare. Diagnosis with ECG, CXR and ECHO is typically adequate. Focused use of right heart catheterization and MRI may be useful. In pediatric patients with elevated troponins, left heart catheterization and coronary angiography should be reserved for a highly selective group, and adult “door-to-balloon time” protocols should not be applied routinely.     

Nonimmune hydrops fetalis: report of 22 cases including three siblings.

Twenty-two cases of nonimmune hydrops fetalis (NIHF) seen over a three-year period are described. Eight cases were associated with major congenital anomalies, seven cases with minor anomalies or other disease entities, and seven idiopathic cases. The overall mortality rate was 50%, greatest in those cases complicated by major anomalies. The clinical problems commonly encountered in management of these patients are reviewed, and include prenatal detection, perinatal asphyxia, disseminated intravascular coagulopathy, fluid and electrolyte imbalance, and respiratory difficulty. A review of the literature for those entities found in association with NIHF is also included. The case studies of three consecutive siblings with NIHF born to the same parents are briefly analyzed.     

Preoperative cranial ultrasound findings in infants with major congenital heart disease

BACKGROUND: Advances in diagnostic testing and surgical techniques have resulted in reduced mortality in neonates with congenital heart disease (CHD) and a major concern for neurological morbidity in the presence of preoperative neurological injury. OBJECTIVES: To determine the incidence and nature of preoperative cerebral ultrasound abnormalities in neonates with major CHD and to examine the relationship between cerebral abnormalities and the type of CHD. METHODS: Retrospective study; inclusion criteria: (1) neonates with major CHD admitted to the NICU over a 3-y period, (2) gestational age >35 wk, (3) documented preoperative cranial ultrasound available; exclusion criteria: (1) small for gestational age, (2) other congenital anomalies and/or chromosomal abnormalities, (3) a 5-min Apgar score <7, (4) congenital infection. Cranial ultrasounds (CUS) were reviewed without knowledge of the cardiac defect. CHDs were categorized. RESULTS: Fifty of 108 neonates with CHD met the inclusion criteria. Twenty-one patients (42%) had abnormalities on CUS. Thirteen of these (26%) had widened ventricular and/or subarachnoid spaces, three (6%) lenticulostriate vasculopathy, one (2%) calcification in the basal nuclei, and four (8%) had acute ischaemic changes. Cerebral abnormalities occurred more frequently in patients with coarctation or hypoplastic left heart syndrome (HLHS) than transposition of the great arteries (TGA) (63% vs 14%; n.s.).CONCLUSION: There is a high incidence of preoperative cerebral ultrasound abnormalities in this group of neonates with major CHD.     

The contribution of pulse oximetry to the early detection of congenital heart disease in newborns

Approximately half of all newborns with congenital heart disease are asymptomatic in the first few days of life. Early detection of ductal-dependant cardiac malformations prior to ductal closure is, however, of significant clinical importance, as the treatment outcome is related to the time of diagnosis. Pulse oximetry has been proposed for early detection of congenital heart disease. The aims of the present study were: 1) to determine the effectiveness of a pulse-oximetric screening performed on the first day of life for the detection of congenital heart disease in otherwise healthy newborns and 2) to determine if a pulse-oximetric screening combined with clinical examination is superior in the diagnosis of congenital heart disease to clinical examination alone. This is a prospective, multi-centre study. Postductal pulse oximetry was performed between six and twelve hours of age in all newborns of greater than 35 weeks gestation. If pulse-oximetry-measured arterial oxygen saturation was less than 95%, echocardiography was performed. Pulse oximetry was performed in 3,262 newborns. Twenty-four infants (0.7%) had repeated saturations of less than 95%. Of these infants, 17 had congenital heart disease and five of the remaining seven had persistent pulmonary hypertension. No infant with a ductal-dependant or cyanotic congenital heart disease exhibited saturation values greater or equal to 95%. Conclusion: postductal pulse-oximetric screening in the first few days of life is an effective means for detecting cyanotic congenital heart disease in otherwise healthy newborns.     

Using multidetector-row CT in neonates with complex congenital heart disease to replace diagnostic cardiac catheterization for anatomical investigation: initial experiences in technical and clinical feasibility

Background Echocardiography is the first-line modality for the investigation of neonatal congenital heart disease. Diagnostic cardiac catheterization, which has a small but recognized risk, is usually performed if echocardiography fails to provide a confident evaluation of the lesions. Objective To verify the technical and clinical feasibilities of replacing diagnostic cardiac catheterization with multidetector-row CT (MDCT) in neonatal complex congenital heart disease. Materials and methods Over a 1-year period we prospectively enrolled all neonates with complex congenital heart disease referred for diagnostic cardiac catheterization after initial assessment by echocardiography. MDCT was performed using a 40-detector-row CT scanner with dual syringe injection. A multidisciplinary congenital heart disease team evaluated the MDCT images and decided if further diagnostic cardiac catheterization was necessary. The accuracy of MDCT in detecting separate cardiovascular anomalies and bolus geometry of contrast enhancement were calculated. Results A total of 14 neonates were included in the study. No further diagnostic cardiac catheterization was needed in any neonate. The accuracy of MDCT in diagnosing separate cardiovascular anomalies was 98% (53/54) with only one atrial septal defect missed in a patient with coarctation syndrome. The average cardiovascular enhancement in evaluated chambers was 471 HU. No obvious beam-hardening artefact was observed. Conclusion The technical and clinical feasibility of MDCT in complex congenital heart disease in neonates is confirmed. After initial assessment with echocardiography, MDCT could probably replace diagnostic cardiac catheterization for further anatomical clarification in neonates.