Prevalence and clinical significance of cardiac murmurs in neonates.

AIM: To determine the prevalence and clinical significance of murmurs detected during routine neonatal examination. METHODS: In a two year prospective study, 7204 newborn babies underwent routine examination by senior house officers. All those with murmurs underwent echocardiographic examination. All babies presenting later in infancy were also identified, to ascertain the total prevalence of congenital heart disease in infancy. RESULTS: Murmurs were detected in 46 babies (0.6%) of whom 25 had a cardiac malformation. The most common diagnosis was a ventricular septal defect, although four babies had asymptomatic left heart outflow obstruction. A further 32 infants from the same birth cohort had a normal neonatal examination but were found to have a cardiac malformation before 12 months of age. CONCLUSIONS: The neonatal examination detects only 44% of cardiac malformations which present in infancy. If a murmur is heard there is a 54% chance of there being an underlying cardiac malformation. Parents and professionals should be aware that a normal neonatal examination does not preclude a clinically significant cardiac malformation. The detection of a murmur should prompt early referral to a paediatric cardiologist for diagnosis or appropriate reassurance.     

Routine pulse oximetry in the asymptomatic newborn

OBJECTIVE: To assess the effect of routine measurement of postductal oxygen saturation as an adjunct to routine clinical examination in the asymptomatic newborn. DESIGN AND SETTING: Prospective study in a district general hospital. PATIENTS: All 6166 infants inborn between 1 April 1999 and 31 March 2001. INTERVENTION: Oxygen saturation was measured over two minutes, after the age of 2 hours and before discharge, in one foot of all babies not admitted directly to the neonatal unit. Babies with fractional (as opposed to functional) oxygen saturation (SaO(2)) below 95% were examined by the midwife. If this examination was abnormal or if normal but further measurements were below 95%, an echocardiogram was performed. All babies with cardiac malformations diagnosed by 1 year of age were identified from databases maintained at the regional cardiology referral unit and the regional congenital malformation survey. RESULTS: Measurements were made in 98% of eligible babies. A fractional SaO(2) less than 95% was found in 5% but persisted in only 1%. Structural cardiac malformations were found in 50 (8.1/1000), 26 of whom had isolated ventricular septal defects. Of the remaining 24 with other cardiac malformations, attention was first drawn to six by low SaO(2), and four more, first noticed for other reasons, also had low SaO(2). Low SaO(2) also first drew attention to 13 other babies ill for other reasons. CONCLUSION: Newborn babies with important cardiac malformations are often asymptomatic initially and the yield from clinical examination is poor. Measuring postductal saturation routinely in newborn babies before discharge is easy and can alert staff to ill babies.     

Congenital left ventricular diverticulum diagnosed by echocardiography

Congenital left ventricular diverticulum is a rare cardiac malformation. The incidence of left ventricular diverticulum is reported to be 0.05% of all congenital heart malformations. This case series comprised three infants with the diagnosis of congenital left ventricular diverticulum determined by echocardiography. In addition, two of the three babies also were detected to have other cardiac disease. Echocardiography is a useful tool for diagnosing congenital left ventricular diverticulum.     

Presentation of high ano-rectal malformation beyond neonatal period

Anorectal malformation is one among the common congenital malformations usually encountered. The babies usually present early after birth with complaints of missing anal opening, or abnormally placed anal opening, but some patients have presented beyond the early newborn period without recognition of their anorectal malformation. We are presenting a case of a male child with high ARM, who unusually presented first at the age of 45 days, without gross abdominal distension or septicaemia.     

Congenital malformation among newborns at Dr. Pirngadi Hospital Medan during 1981-1984

A study on the incidence of congenital malformation had been assessed among 15,185 newborns delivered in the Neonatal Unit, Dr. Pirngadi Hospital Medan during 1981-1984. Still-births were not included in this study. Out of these 15,185 newborns there were 77 cases (0.51%) of congenital malformation. The four leading malformations were pes-equinovarus 7 cases (9.1%), labiognathopalatoschizis, hydrocephalus and anencephalus 6 cases each (7.7%). The number of congenital malformations was higher in the age group of mothers older than 35 years (0.78%) and in the group of babies born in the birth order as third and further (53.85%) and as first born babies (33.33%). From 77 cases with congenital malformation only 2 (2.56%) were operated soon after birth, while 49 cases (64.1%) went home without surgical intervention, and 28 cases (35.9%) died during hospitalization.     

Presentation of congenital heart disease in infancy: implications for routine examination.

AIM: To investigate the performance of routine neonatal and 6 week examinations for detecting congenital heart disease. METHODS: A retrospective review of findings on clinical examination was conducted of a cohort of live born infants with congenital heart disease in one health region in 1987-94. RESULTS: Of 1590 babies with congenital heart disease, 523 (33%) presented before neonatal examination because of symptoms or non-cardiac abnormalities. 1061 underwent routine neonatal examination which was abnormal in 476 (45%), but only 170 were referred directly for diagnosis. Of 876 discharged with no diagnosis, 306 presented or died undiagnosed before 6 weeks. At 6 weeks 252 of 569 babies underwent a second routine examination which was abnormal in 164 (65%). CONCLUSIONS: Routine neonatal examination fails to detect more than half of babies with heart disease; examination at 6 weeks misses one third. A normal examination does not exclude heart disease. Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation which will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function.     

Congenital malformations in Shimla

Congenital malformations were studied over a period of five years in 10, 100 consecutive births including still births at Indira Gandhi Medical College, Shimla. Out of these, 180 babies had one or the other congenital malformations and the overall incidence was 1.78%. Amongst the 311 still born babies 47 had congenital malformations indicating that the incidence of congenital malformations was much higher in still born babies (15.1%) as compared to the live born babies (1.3%). The malformations involving the central nervous system were the commonest (40%) followed by musculoskeletal system (23.8%) while genitourinary system malformations were the least common and accounted for 3.8% of the cases. Incidence of congenital malformations was the highest in mothers over 35 years of age and gravida four and more. The incidence was 2.8% in both the groups; the incidence of congenital malformation was more in babies weighing < 2500 gms and was 2.6%.     

Early detection of congenital cardiovascular malformations in infancy

In an ongoing population-based study of congenital cardiovascular malformations in the Baltimore-Washington, DC, area, 1527 affected infants were ascertained from multiple sources during the years 1981 to 1984. Ninety-eight percent were evaluated at a regional pediatric cardiology center. Among the unreferred cases, in which the cardiac defect was diagnosed only at autopsy, most infants died in the first week of life and had associated problems, such as low birth weight, major noncardiac malformations, or other life-threatening illnesses, but a few infants with potentially remediable heart disease escaped clinical detection. Until preventive measures become available, reduction of infant mortality due to congenital cardiovascular malformations will continue to depend on early recognition of signs of serious heart disease in infants and on effective community-wide use of specialized cardiac services.     

Intestinal Ganglioneuroblastoma in a 22-Week Fetus

The clinical history and autopsy findings of a 22-week fetus with intestinal ganglioneuroblastoma, cardiac anomalies, omphalocele, and ileal atresia are presented. Ganglioneuroblastoma was confined to the large intestine and was not suspected prenatally despite ultrasonographic examination. Although enteric ganglia share neural crest lineage with other sites of congenital neuroblastoma, this is the first report of a primary intestinal ganglioneuroblastoma in a fetus or child. Various hypotheses are discussed to explain the coexistence of cardiac malformation and congenital neuroblastoma in this fetus and other cases in the literature. It is hypothesized that other malformations evident in this fetus were caused by the tumor, possibly as teratogenic effects of neuroblastoma-durived catecholamines during embryogenesis.     

The influence of congenital heart disease on survival of infants with oesophageal atresia

OBJECTIVE: To examine the prevalence of congenital heart disease in babies with oesophageal atresia and its influence on outcome. DESIGN: Retrospective analysis. SETTING: The resident population of one health region. RESULTS: A total of 153 babies with oesophageal atresia were identified from 509 975 live births (0.30 per 1000); 26 (17%) had cardiac defects. Survival of babies with normal hearts was 97%, 97%, and 95% at one week, one month, and one year. Survival of babies with congenital heart disease was 85%, 85%, and 67% at one week, one month, and one year, but only one of ten deaths was the result of the congenital heart disease. The remaining deaths were due to other congenital malformations, respiratory disease, or chromosome abnormalities. CONCLUSIONS: There is a high prevalence of congenital heart disease in babies with oesophageal atresia. Congenital heart disease is associated with a higher mortality in oesophageal atresia but it is not the cause of it.     

Radiological evaluation with Doppler sonography and multidetector CT angiography in congenital hepatic arteriovenous malformation in a newborn

Although hepatic arteriovenous malformations are rarely reported, they frequently have life-threatening complications such as cardiac failure and are associated with a high mortality rate. Consequently, accurate prenatal and early postnatal diagnosis is important and therapeutic procedures depend on the imaging features. We report the early postnatal sonographic, Doppler sonographic, multidetector CT and CT angiography findings of a congenital hepatic arteriovenous malformation in a newborn.     

Postmortem Findings and Clinicopathological Correlation in Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a severe life-threatening disease, with an incidence of 3 per 10,000 births, that can occur as an isolated defect or in combination with other congenital anomalies. We reviewed the clinical and autopsy reports of 39 subjects with CDH that were autopsied between 1988 and 2001 to determine whether autopsy had an additional value in the detection of malformations in patients with CDH. We compared the clinical data (including echographic results in some patients) concerning congenital anomalies with the autopsy results. Before autopsy, 6 structural cardiac defects, 3 anomalies of the urogenital system, and 3 anomalies of the digestive tract were observed in 10 patients (clinical and echographic results). However, with postmortem examination, only 4 structural cardiac defects were confirmed, 2 cases showed another cardiac anomaly, and 7 new cardiac defects were found. In the urogenital system, 1 anomaly was confirmed, 1 was not confirmed, and 1 showed another malformation. In addition, in 7 patients new urogenital malformations were found after autopsy. In the digestive tract, all 3 malformations were confirmed, but we found 3 new malformations after postmortem examination. All clinically established dysmorphic features and anomalies of the skeletal system and central nervous system were confirmed by autopsy, and no additional malformations were found. We concluded that postmortem examination has an important additional role in the detection of structural cardiac defects and malformations of the urogenital system and digestive tract in children with CDH.Marieke F. van Dooren and Natascha N.T. Goemaere both contributed equally to this article.     

Examination for cardiac malformations at six weeks of age.

AIM: To attempt to define the prevalence and significance of murmurs detected on routine clinical examination at six to eight weeks. METHODS: A retrospective review of the results of routine clinical examination of a cohort of 6 to 8 week old babies resident in Newcastle upon Tyne, was carried out in two 12 month periods. All cardiac defects diagnosed in infancy in the same cohort were ascertained. RESULTS: 7132 babies were eligible for routine examination; 83% of these were examined. Murmurs were heard in 47 of 5395 babies and in 11 of 25 referred for evaluation congenital heart disease was found. The six to eight week examination led to diagnosis of 11 of 35 cases (31%) of congenital heart disease in the study population. CONCLUSIONS: Nearly one baby in 100 had a murmur on routine examination at six to eight weeks. Nearly half of those with murmurs who were referred had a structural cardiovascular malformation.     

Frequency of birth defects. Study of a maternity hospital in Paris]

A retrospective study of 20,591 live born babies and still birth was made in order to estimate the incidence of congenital malformations total and by type diagnosed at birth. The total incidence is 1,74 p. 100. The sex ratio, the mean birth rank and parental ages were computed for the different types of malformation and in the control group. The birth weight was low in case of severe malformation. It was found that malformations were associated with significantly raised abortions and still birth rates among previous pregnancies.     

先天性呼吸系统畸形234例临床分析

目的 探讨先天性呼吸系统畸形的类型和临床特点,提高对该类疾病的早期诊断率.方法 对温州医学院附属育英儿童医院呼吸科2003年7月至2008年6月收治的234例先天性呼吸系统畸形的类型、临床和影像学资料等进行总结分析.结果 234例先天性呼吸系统畸形患儿诊断时年龄1 d～14岁,平均1.12岁,主要症状为持续喉喘鸣、反复喘息、反复呼吸道感染、呼吸困难等.通过胸片、螺旋CT三维重建、纤维支气管镜和喉镜等检查,确诊复合畸形21例,单发畸形213例.单发畸形213例中,喉部畸形(97例)包括先天性喉软骨软化症90例,先天性喉蹼5例,先天性喉囊肿2例;气管支气管畸形(35例)包括先天性(支)气管狭窄17例,先天性支气管起源异常7例,气管支气管软化10例,气管食管瘘1例;肺部畸形(43例)包括肺隔离症5例,先天性肺囊肿22例,先天性大叶性肺气肿1例,肺不发育和发育不全8例,先天性肺囊性腺瘤样畸形7例;膈肌畸形(38例)包括先天性膈疝20例,先天性膈肌膨出症18例.经手术确诊的37例肺部畸形和36例膈肌畸形中,术前经临床和影像学做出初步诊断分别占83.78%和91.67%.28例先天性(支)气管狭窄(含复合畸形11例)经螺旋CT三维蕈建联合纤维支气管镜检查确诊;10例先天性支气管起源异常(含复合畸形3例)经螺旋CT三维重建诊断.喉软化和(支)气管软化的诊断依靠喉镜和纤维支气管镜检查.结论 对于持续喉喘鸣、反复喘息、反复呼吸道感染、呼吸困难的患儿应考虑到先天性呼吸系统畸形的诊断,其类型分为喉部畸形、气管支气管畸形、肺部畸形和膈肌畸形.影像学检查和呼吸内镜对先天性呼吸系统畸形的诊断有着十分重要的作用.     

Socioeconomic inequalities in risk of congenital anomaly.

AIMS: To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups. METHODS: A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk near hazardous waste landfill sites. As a measure of socioeconomic status, cases and controls were given a value for the area level Carstairs deprivation index, by linking the postcode of residence at birth to census enumeration districts (areas of approximately 150 households). RESULTS: Risk of non-chromosomal anomalies increased with increasing socioeconomic deprivation. The risk in the most deprived quintile of the deprivation index was 40% higher than in the most affluent quintile. Some malformation subgroups also showed increasing risk with increasing deprivation: all cardiac defects, malformations of the cardiac septa, malformations of the digestive system, and multiple malformations. No evidence for socioeconomic variation was found for other non-chromosomal malformation groups, including neural tube defects and oral clefts. A decreasing risk with increasing deprivation found for all chromosomal malformations and Down's syndrome in unadjusted analyses, occurred mainly as a result of differences in the maternal age distribution between social classes. CONCLUSION: Our data, although based on limited numbers of cases and geographical coverage, suggest that more deprived populations have a higher risk of congenital anomalies of non-chromosomal origin and some specific anomalies. Larger studies are needed to confirm these findings and to explore their aetiological implications.     

先天性无肛畸形Gli2基因表达的研究

目的：探讨先天性肛门直肠畸形直肠末端SHH转录反应因子Gli2基因表达水平与畸形的关系。方法：采用RT－PCR方法检测16例不同类型先天性肛门直肠畸形直肠后壁末端及8例正常直肠后壁末端Gli2的表达水平,应用t检验比较正常组与畸形组、不同畸形类型之间Gli2表达水平的差异。结果:肛门直肠畸形直肠后壁末端Gli2的表达水平明显低于正常直肠（P＝0．01）,各不同类型畸形之间Gli2表达水平无明显差异（P＞0．05）。结论：Gli2表达水平减低与肛门直肠畸形的发生有关,还有其他机制参与该畸形的发生。     

Familial interruption of the aortic arch

Summary Interruption of the aortic arch (IAA) is an important congenital cardiac malformation occurring in 1.4% of cases with a congenital cardiac malformation. Only two reports have described IAA in siblings, each with type B and an anomalous right subclavian artery. We report the occurrence of IAA type B with an anomalous right subclavian artery in two siblings and their half-sibling, each of whom had additional conotruncal cardiac malformations. Recent evidence suggests that conotruncal cardiac malformations, including IAA type B, are related to abnormalities of neural crest cell migration. Thus, the family reported herein may manifest a syndrome related to alterations in mesenchymal tissue/neural crest cell migration.     

Congenital heart malformations: aetiology and associations

The causes of congenital heart malformations are complex and include a major contribution by genetic factors. These can be considered under the headings of chromosomal, single gene and multifactorial. Almost any degree of autosomal imbalance, whether a full trisomy or a tiny microdeletion, can cause a cardiac malformation. Recent research has identified several developmental genes which play an important role in cardiac formation: these are discussed with regard to laterality, septation and vascular morphogenesis. Hypothetical ‘polygenes’, which may contribute to non-syndromal ‘multifactorial’ cardiac malformations have yet to be identified. Well-known cardiac malformation syndrome associations are described and simple guidelines are presented to help in the assessment and investigation of an affected neonate who has additional multiple dysmorphic features.     

An epidemiological study of congenital malformations in new born

In a prospective study of 3000 consecutive deliveries (14 twin deliveries), the rate of congenital malformation was reported to be 27.20 per 1000 births (82 out of 3014). No significant difference was observed in the frequency of congenital malformation in urban rural status, in different religion and caste, and in male female babies. An increase in frequency was seen in advanced maternal age and in primi and fourth gravida mothers. A number of environmental factors studied, such as use of different tooth powders, type of drinking water, different cooking vessels, associated vitamin deficiencies did not seem to influence the prevalence of birth defects significantly. The factors which significantly increased the rate of congenital malformation were consanguinity in parents, heridofamilial history of malformations, presence of hydramnios, maternal febrile illness in first trimester, past history of abortion and history of progesterone intake during pregnancy.