The international collaborative study of maternal phenylketonuria: status report 1998

The Maternal Phenylketonuria Study began in 1984 and during the intervening years, 572 pregnancies in hyperphenylalaninemic women and 99 controls and their outcomes have been evaluated. Among hyperphenylalaninemic women who delivered a live infant, only 15.9% were treated and in metabolic control preconceptually, however, another 18.4% were in control by 10 weeks. Compared to the results reported by Lenke and Levy in 1980, there is a marked improvement in outcome with treatment. Microcephaly was unusual in preconceptually treated pregnancies with well controlled phenylalanine restricted diets. Even in pregnancies that established control after conception but before the 8th week, congenital heart disease did not occur in the offspring, however, it did occur in 12% of pregnancies not achieving control until after 10 weeks of pregnancy. Conclusion The recommended level of blood phenylalanine during pregnancy is 120-360 wmol/l. Best results were obtained by close cooperation between the attending obstetrician and a metabolic team experienced in the care of persons with phenylketonuria.     

The selenium status of children with phenylketonuria: Results of selenium supplementation

The selenium status of children with phenylketonuria on a synthetic low phenylalanine diet was assessed. Correlation between blood selenium and red cell glutathione peroxidase was unsatisfactory ( r = 0.65) due to the poor discrimination of red cell glutathione peroxidase with a low selenium diet. No symptoms of deficiency were observed. Supplementation with 50 μg per week of selenium as brewers yeast tablets over a period of 6 months significantly increased the blood selenium of the phenylketonuric children. Plasma Vitamin E levels were within normal limits. The supplementation effectively doubled their selenium intake to 15–17 μg per day, which is probably sufficient for this group with an adequate Vitamin E status, though considerably lower than the recommended minimum intake of 50 μg per day.     

The cardio-facio-cutaneous syndrome: report of a patient and review of the literature

We report a 3-year-old girl with the cardiofacio-cutaneous (CFC) syndrome. She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prominent forehead with posteriorly rotated ears and down-slanting palpebral fissures, an atrial septal defect, and ectodermal abnormalities. All cases reported to date occurred sporadically. The actiology remains unknown; de novo mutations of an autosomal dominant gene seem the most likely explanation.     

Congenital diaphragmatic hernia and chromosomal abnormalities: report of a lethal association

Congenital diaphragmatic hernia carries a high mortality which is often the consequence of associated anomalies. A chromosomal abnormality of the long arm of chromosome 8 resulted in a fatal combination of anomalies associated with CDH.     

先天性心脏病相关的心律失常的临床研究

目的总结先天性心脏病患儿合并心律失常的类型及患病率。方法选择北京儿童医院2005年1月～2006年12月收治的793例先天性心脏病患儿为研究对象。所有患儿进行心电监测及十二导联心电图检查。结果共发现有128例患儿出现心律失常，其类型分别为：（1）束支传导阻滞97例（75．8％）；（2）Ⅰ度房室传导阻滞21例（14．2％），其中合并右束支阻滞5例（3．9％），加速性房性逸搏心律1例（0．8％）；（3）异位心律25例（19．5％），分别为加速性房性逸搏心律10例（7．8％），室性早搏8例（6．3％），单纯房性早搏5例（3．1％），室上性心动过速2例（1．6％）。结论先天性心脏病相关的心律失常以束支传导阻滞最常见，其次为Ⅰ度房室传导阻滞，异位心律最少见。易合并心律失常的先天性心脏病为室间隔缺损、房间隔缺损和心内膜垫缺损。心内膜垫缺损合并心律失常的发病率最高。     

Congenital heart disease in India: A status report

Pediatric cardiac care in India is still in its infancy. We have no data on congenital heart disease (CHD) prevalence at birth or on proportional mortality from CHD. The resources are not only limited but also are at times improperly utilized. There are very few specialized pediatric cardiology training programs, those that are, are concentrated in certain regions of India and are often imparted through combined adult and pediatric programs. The existing number of trained personnel for pediatric cardiology and pediatric cardiac surgery is inadequate. Above all there is no national policy for pediatric heart care. Increasing awareness of the problem amongst the pediatricians through CMEs, seminars, symposia is likely to be most helpful in early diagnosis and timely referral of cases. Training programs exclusively dedicated to pediatric cardiology and pediatric cardiac surgery need to be established in centres with good standards of pediatric cardiac care.     

Systemic to pulmonary arterial shunts for patients with cyanotic congenital heart disease: Current status

The various central vascular shunting operations used for palliation of patients with congenital heart disease plus decreased pulmonary blood flow are discussed. The status of each in current practice is outlined in order to provide an up-to-data reference for the pediatric radiologist. In general, the Waterston shunt is preferred for infants under six months and the Blalock-Taussig anastomosis for patients older than this.Supported by: Grant 260, Children's Bureau, Maternal and Child Health Service, Department of Health, Education and Welfare, Washington, D. C.; and grants from the National Heart and Lung Institute of the National Institutes of Health, the John A. Hartford Foundation, Inc., and the Max Kade Foundation, Inc.     

唐氏综合征患儿先天性心脏病术后并发症和预后的病例对照研究

目的探讨唐氏综合征(DS)患儿先天性心脏病(先心病)术后的并发症及预后。方法以2009年1月1日至2013年6月30日DS先心病术后患儿为DS组,选择同期非DS先心病术后患儿作为对照组。两组根据先心病类型分别分为简单和复杂型先心病亚组。比较两组患儿临床特征、术后并发症及预后。结果 DS组和对照组分别纳入77例,两组年龄、性别构成、体重和先心病类型差异均无统计学意义。DS组简单先心病亚组46例(59.7%),复杂先心病亚组31例;对照组简单先心病亚组47例(61.0%),复杂先心病亚组30例。DS组机械通气时间和ICU住院时间较对照组明显延长(P均0.05),低心排综合征、再插管、肺部感染和肺动脉高压的发生率较对照组亦明显增高(P均0.05);病死率也高于对照组(6.5%vs 1.3%),但差异无统计学意义(P=0.096)。DS组和对照组简单型先心病亚组并发症发生率及病死率差异均无统计学意义(P均0.05)。DS组复杂型先心病亚组在机械通气时间、ICU住院时间、总住院天数较对照组相应亚组均明显延长,低心排综合征、肺动脉高压和肺部感染的发生率亦明显增高(P均0.05),病死率DS组复杂型先心病亚组有增高趋向(12.9%vs 3.3%,P=0.173)。结论 DS不增加简单型先心病患儿术后并发症和病死率;但增加复杂型先心病术后并发症发生率的风险,有增加病死率的趋向。     

二尖瓣前叶腱索与乳头肌交界血性囊肿一例分析

目的 探讨二尖瓣前叶腱索与乳头肌交界血性囊肿的临床及病理学特点,提高对血性囊肿的认识,及时作出诊疗,进一步探索其形成原因.方法 回顾性分析1例部分型心内膜垫缺损合并二尖瓣前叶腱索与乳头肌交界血性囊肿10岁男孩的临床资料,总结诊疗经验,并结合相关报道进行文献复习.本例术前经胸心脏超声未见肿块,二尖瓣口收缩期可见轻中度偏心性反流血流信号及湍流血流信号,缩流径宽3.0mm.术中开胸前食道心脏超声探查始见二尖瓣区大小约11.2 mm×7.9 mm的中等稍强回声光团.结果 患儿术后恢复良好,复查心脏彩色超声提示二尖瓣口收缩期可见轻度偏心性反流血流信号及湍流血流信号,缩流径宽2.2mm,未吸氧动脉血气分析氧分压为95 mmHg,经皮血氧饱和度为99％,均较术前有改善.术后6个月随访,患儿无明显自觉不适,复查未吸氧动脉血气分析氧分压为98 mmHg,经皮血氧饱和度为99％,行食道心脏超声二尖瓣区未见异常团块声像,二尖瓣口收缩期可见轻度偏心性反流血流信号及湍流血流信号,缩流径宽1.5mm,EF:70％.结论 瓣膜装置血性囊肿,尤其二尖瓣前叶腱索与乳头肌交界血性囊肿临床不多见.对于部分型心内膜垫缺损患儿合并二尖瓣前叶腱索与乳头肌交界血性囊肿应同期处理,对于单独二尖瓣前叶腱索与乳头肌交界血性囊肿的治疗,目前尚无确切一致的指南,仅在有临床症状时予相应处理,否则定期观察即可.     

Situs inversus abdominus in association with congenital duodenal obstruction: a report of two cases and review of the literature

This report describes two newborns with persistent bile-stained vomiting. Their radiological investigations revealed the existence of situs inversus and duodenal obstruction. In one, the duodenal obstruction was partial, secondary to a duodenal diaphragm with a central aperture, whereas the other child had complete duodenal atresia as well as Fallot’s tetralogy. Such an association is extremely rare, with only 18 cases reported so far in the literature. Embryological aspects, investigations, and treatment are also discussed.     

母亲还原叶酸载体基因多态性与子代先天性心脏病关联的病例对照研究

目的 探讨母亲还原叶酸载体(reduced folate carrier,RFC)基因多态性与子代先天性心脏病(congenital heart disease,CHD)的关系.方法 采用基于医院的病例对照研究,以2017年11月至2020年3月于湖南省儿童医院心胸外科就诊的683例CHD婴儿的母亲为病例组,以同期在该...     

Surgical management of congenital heart defects: Current trends

Surgical treatment for congenital heart disease has become available over the last five decades. Palliative procedures have been designed to improve physiologic abnormalities, for example systemic artery (or venous) to pulmonary artery shunts of various types to increase the pulmonary blood flow, pulmonary artery constriction (banding) to decrease the pulmonary blood flow, and surgical or transcatheter atrial septostomy to augment intracardiac mixing. These can be performed with a low mortality. The majority of congenital heart defects can be corrected by open heart surgical techniques; some require prior palliation and others can be operated without prior palliative surgery. Recent surgical advances include early total surgical correction for tetralogy of Fallot, arterial switch procedure for transposition of the great arteries, Fontan operation and its modifications for tricuspid atresia and single ventricle, new operations for hypoplastic left heart syndrome, newer prosthetic valves, myocardial preservation and cardiac transplantation.     

The Impact of Fetal Echocardiography

Fetal echocardiography has impacted the fetus with congenital heart disease in many important ways. Advances in fetal echocardiography have allowed for more accurate and earlier detection of cardiac abnormalities. In turn, the prenatal diagnosis of cardiac abnormalities has improved the care and outcome of selected fetuses with severe cardiac malformations or arrhythmias. Fetal echocardiography has improved the understanding of the development and evolution of congenital heart disease in utero, and it may serve a role in identifying candidates for prenatal intervention. The prenatal diagnosis of congenital heart disease has allowed for better counseling and preparation of families regarding the anticipated prenatal development of the fetus as well as the expected postnatal management plans and prognosis. This article reviews the impact of fetal echocardiography in these and other areas.     

Excess of congenital abnormalities in French-Canadian children with neuroblastoma: A case series study from Montreal

Neuroblastoma is one of the most common cancers of childhood. Some studies have shown an excess of congenital abnormalities in children who have been diagnosed with neuroblastoma. In this study we examined the medical records of all children with neuroblastoma seen at St. Justine Children's Hospital between the years 1977 and 1993. A total of 141 children (131 of French-Canadian ancestry) were included in this study. Twelve children (8.5%) had 21 defined congenital abnormalities (1,490 per 10,000 children). This compared with a rate of 444.3 children with abnormalities per 10,000 live births (4.44%) for all congenital abnormalities in the British Columbia Health Surveillance Registry, 1979–1988 (relative risk 1.91, P = 0.03). Six of the 12 children had cardiovascular malformations. These and previous results suggest that there may be a common developmental origin to neuroblastoma and to some congenital malformations. Genes that control development may be worthy of further study in these children. Med. Pediatr. Oncol. 29:272–279, 1997. © 1997 Wiley-Liss, Inc.     

Prevalence,treatment, and outcome of heart disease in live-born children: A prospective analysis of 91,823 live-born children

Summary All 91,823 children born in 1980 in Bohemia (population 6.314 million; area 52,478 square kilometers) were examined at least four times during infancy and at the age of three and four years. All children who died were autopsied and those with heart disease were selected. A total of 779 children (8.223/1000 live births) were suspected by provincial pediatric cardiologists of having a heart disease. All of these were examined at the age of four years at our Center of Pediatric Cardiology. At this age heart disease was proved in 613 alive or decreased children (6.676/1000 live births), congenital cardiac malformations in 589 (6.415/1000 live births), and cardiomyopathies in 24. The most frequent congenital heart defects (CHD) were ventricular septal defect (VSD) (31.41%), atrial septal defect (ASD) (11.37%), aortic stenosis (AS) (7.64%), pulmonary stenosis (PS) (7.13%), coarctation of the aorta (CoA) (5.77%), and transposition of the great arteries (TGA) (5.43%), followed by persistent ductus arteriosus (PDA) (4.75%), atrioventricular septal defect (AVSD) and hypoplastic left heart syndrome (HLHS) (4.07% each), tetralogy of Fallot (TF) (3.56%), and pulmonary atresia (PA) (2.38%). A prevalence of less than 0.1/1000 live births was found for the remaining cardiovascular defects.One hundred fifty-nine (25.9%) patients were admitted to our highly specialized center, 116 (19.7%) catheterized and 85 (13.9%) treated surgically, during the first four years of life. A total of 440 (71.8%) patients survived the fourth year of life. The percentage of deaths was 25.6% among those with congenital heart diseases and 71% with cardiomyopathies. The overall mortality rate was 27% in surgically and 26% in medically treated patients.     

先天性心脏病婴儿生长发育状况及其危险因素分析

目的 调查评估先天性心脏病婴儿生长发育状况,探讨其生长落后的发生率及其危险因素.方法 采用Z评分法对2010年8月至2011年8月期间在我科住院行心脏手术的354例先天性心脏病婴儿进行营养状况评估,根据评估结果分为营养不良组及非营养不良组,采用卡方检验及多元回归分析对造成生长发育落后的可能危险因素进行单因素及多因素回归分析.结果 354例中低体重患儿108例(30.5％),经多元回归分析,低出生体重(OR=3.844,P=0.001)、肺动脉高压(OR=5.702,P=0.000)、肺炎(OR=2.161,P=0.005)与其显著相关;生长迟缓患儿62例(17.5％),经多元回归分析,低出生体重(OR=4.137,P=0.000)、肺动脉高压(OR=2.352,P=0.047)、肺炎(OR=3.417.P=0.000)与其显著相关;消瘦患儿95例(26.8％),经多元回归分析,肺动脉高压(OR=2.747,P=0.001)与其显著相关.结论 低出生体重、肺动脉高压、肺炎对先天性心脏病婴儿生长发育可产生显著影响;是否紫绀与小婴儿营养不良无显著相关.     

Impact of Three-Dimensional Echocardiography in Complex Congenital Heart Defect Cases: The Surgical View

Other authors have demonstrated the ability of three-dimensional (3D) echocardiography to produce “en face” views of anomalies such as atrioventricular valve disease and atrial and ventricular septal defects. Few data exist about the usefulness of 3D images for more complex congenital heart defects and the surgical impact of this relatively new technology. This study, covering a period of 8 months and including 43 young patients affected by complex congenital heart defects, demonstrated that the routine use of 3D echocardiography is feasible and valuable for some types of cardiac defects. In fact, 3D images have provided more detailed anatomic definition of interrelations between structures in about one-third (15/43) of our cases, yielding new insight into the anatomy analogous to what can be derived from examining a heart specimen. Our surgeons found the 3D images particularly helpful for providing a realistic and almost specimen-like preview of the surgical anatomy that facilitates planning of the surgical program. Electronic supplementary material  The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

儿童先天性心脏病术后六分钟步行试验中心电参数的研究

目的 研究先天性心脏病（CHD）患儿术后中远期随访6 min步行试验（6MWT）前后心电参数的变化。方法 选取复旦大学附属儿科医院心血管中心经心脏外科手术纠治的年龄≥3岁且随访时间≥6个月的CHD患儿为CHD组;选取健康儿童作为对照组。将CHD组和对照组同时分为3～5岁、～8岁、～12岁和～15岁亚组。CHD组根据CHD类型分为复杂CHD亚组和简单CHD亚组。比较各组6MWT前后P波离散度（Pwd）、QRS时限和QT离散度（QTd）变化。结果 CHD组89例,男51例,女38例,行外科手术时的平均年龄为（30±23）岁（36 d至110岁）,术后平均随访时间为（36±32）（05～142）年。3～5岁、～8岁、～12岁和～15岁亚组分别为39、27、11和12例。复杂和简单CHD亚组分别为29和60例。对照组133名（男75名,女58名）,3～5岁、～8岁、～12岁和～15岁亚组分别为26、39、39和29名。①CHD组和对照组各年龄亚组6MWT后Pwd、QRS时限和QTd均较6MWT前减小,但差异无统计学意义（均P>005）。②CHD组3～5岁和～12岁亚组6MWT前QTd均较对照组显著增大,3~5岁亚组：(0025±0018) vs (0012±0011) s,P＝0004;～12岁亚组：(0029±0014) vs (0019±0012) s,P＝0019。CHD组各年龄亚组6MWT后QTd与对照组比较差异无统计学意义（均P>005）。③CHD组～8岁和～15岁亚组6MWT前后QRS时限均较对照组显著延长（P分别为0000和0007）;各年龄亚组6MWT后差异均有统计学意义。④复杂CHD亚组6MWT前后QRS时限均较简单CHD亚组延长,6MWT前：(0102± 0025) vs (0080 ± 0021) s,P=0000;6MWT后：(0103 ± 0026) vs (0080 ± 0021) s,P=0000,两亚组6MWT前后Pwd和QTd差异均无统计学意义。结论 CHD术后中远期随访患儿心脏电活动仍不稳定,但其6MWT前后心电参数Pwd、QRS时限及QTd的变化趋势与健康儿童相一致,提示亚极量运动有助于增强心脏电活动的稳定性。