Accuracy of the Fetal Echocardiogram in Double-outlet Right Ventricle

Objective. Double-outlet right ventricle (DORV) is a complex congenital heart defect with heterogeneous anatomy. Patients require a variety of surgical interventions, and the long-term prognosis is variable. Therefore, accurate prenatal diagnosis is important in providing parents with appropriate counseling. Design. Medical records were reviewed in patients with a diagnosis of DORV who had fetal echocardiography at our institution from 1998 to 2004. Pre- and postnatal diagnoses were compared, anticipated surgical procedure was compared with surgery performed, and neonatal outcome was assessed. Results. The study group consisted of 49 fetal patients with 6 in utero deaths (including 4 terminations), 2 patients lost to follow-up, and 41 live births. Postnatal echocardiograms or autopsy results were available on 42 patients. The overall accuracy of fetal echocardiography in making a correct diagnosis of DORV was 76%. Accurate prenatal prediction of the type of cardiac surgery that would be performed was made in 91% of patients who had surgery. Among live births, survival to hospital discharge was 76%. Survival was 50% in patients with extracardiac or chromosomal anomalies, compared with 92% in infants without additional anomalies. Conclusion. In most cases, careful evaluation by fetal echocardiography can determine essential anatomic details in fetuses with DORV with enough accuracy to allow for accurate counseling regarding the type of surgery needed. Survival is better than previously reported but is poor in patients with extracardiac or chromosomal abnormalities.     

电子束计算机断层摄影术在小儿复杂先天性心脏病诊断中的应用

目的 :评价电子束计算机断层摄影术 (EBCT)在小儿复杂先天性心脏病 (先心病 )诊断中的价值。　　方法 :对 2 6例患者经胸常规超声心动图 (TTE)诊断为复杂先心病 ,同时做 EBCT增强单层容积扫描 ,并由计算机工作站进行图像三维重建。其中 9例又做了常规心血管造影 ,11例经外科手术 ,进行对照研究。　　结果 :全组 11种复杂先心病共 6 1处畸形 ,其中心内畸形 2 1处 ,EBCT与 TTE均作出正确诊断。然而 ,心外大血管畸形及心室—大血管连接异常诊断中两者有明显差别 ,在 40处畸形中 ,EBCT过多诊断 1处 (动脉导管未闭 ) ,手术证实为假阳性 ,EBCT诊断符合率为 97.5 % (39/ 40 ) ;TTE诊断 35处 (误诊 1处 ,漏诊 4处 ) ,TTE诊断符合率 87.5 % (35 / 40 )。EBCT与TTE诊断的正确率有显著差异 (χ2 =3.936 ,P<0 .0 5 )。TTE与 EBCT相结合使诊断的总准确率提高到 98.4% (6 0 / 6 1)。　　结论 :EBCT对复杂先心病中某些畸形的检出优于 TTE。EBCT血管造影与 TTE及心血管造影相结合 ,可提高对复杂先心病诊断的准确率 ,以指导手术。     

Determinants of outcome in hospitalized infants with congenital heart disease

To identify determinants of adverse outcome in this era of early, definitive treatment, retrospective data were analyzed for 1988 on infants aged less than 1 year with congenital cardiac disease hospitalized at The Johns Hopkins Hospital. In this cohort of 108 infants, 34% (37 of 108) had complex cardiac disease, 33% (36 of 108) had major extracardiac anomalies, 88 patients (81%) underwent 116 surgical procedures, 37% (40 of 108) were hospitalized for greater than 28 days and 29% (31 of 108) died during the first year. Univariate analysis showed that complex disease (i.e., severe ventricular hypoplasia, ventricular septal malalignment or outflow atresia), extracardiac anomalies, early initial presentation, and prolonged stay in the intensive care unit were significantly associated with infant death, whereas surgery was associated with a significantly increased rate of survival. The findings for complex disease and surgery persisted in multiple logistic regression analysis. It is concluded that outcome in most infants with congenital cardiac defects is now extremely favorable, and that major research and preventive efforts should focus on complex congenital cardiac defects.     

Extracardiac malformations in tetralogy of Fallot

The purpose of our study was to determine the incidence and type of malformations associated with tetralogy of Fallot (TF). Among 133 patients followed up for 12 years, 30 who had either complete TF (n = 26) or pulmonary atresia and interventricular septal defect (n = 4) presented with another, extracardiac malformation. These malformations were part of a malformative syndrome in 21/30 patients, including 4 trisomies 21, 6 embryofoetopathies unquestionably (antiepileptics n = 2, alcohol n = 1) or possibly (hormonal treatment n = 1) of environmental origin, 6 branchial arch pathologies and 5 miscellaneous syndromes. The extracardiac malformation was isolated in the remaining 9 patients, including 5 cases of skeletal anomaly and one case each of omphalocele and microcephaly. Altogether, in these 30 patients skeletal and neurosensory anomalies were largely predominant. Skeletal anomalies involved the vertebral column in 8 cases (cervical 3, thoracic 4, lumbar 1) and the limbs in 5 cases (2 of which were phocomelias). The 4 patients with pulmonary atresia and interventricular septal defect also presented with an early embryopathy: Shprinzen's velocardiofacial syndrome (n = 2), DiGeorge syndrome (n = 1) and situs inversus (n = 1). We compared TF with other congenital heart diseases in our population and found that the incidence of associated malformations was about average. The various associations are discussed. In genetic syndromes, trisomy 21 predominates and TF is less frequent than atrioventricular canal. In syndromes of environmental origin, the role of antiepileptic drugs (chiefly phenytoin and trimethadione) is well-known, alcohol is less often responsible and the TF-phocomelia association is suggestive of progesterone. In branchial arch syndromes, TF is the usual cardiopathy.(ABSTRACT TRUNCATED AT 250 WORDS)     

22q11微缺失综合征与先天性心脏病的关系

目的 探讨22q11微缺失综合征与先天性心脏病的关系.方法 应用荧光原位杂交(FISH) 技术,对207例不同表型的临床疑似患者的外周血标本进行22q11微缺失的检测.分析22q11微缺失综合征患者的超声心动图特征,并对部分复杂先天性心脏病患者行心导管检查.结果 共确诊22q11微缺失综合征患者39例.22q11微缺失综合征的患病率在非综合征性先天性心脏病患者中为1.6%,在综合征性先天性心脏病患者中为53.0%,在无先天性心脏病的疑似患者中则为3.8%.先天性心脏病在22q11微缺失综合征和非22q11微缺失综合征患者中的比例分别为94.9%和54.2%(P＜0.01),综合征性先天性心脏病在22q11微缺失综合征和非22q11微缺失综合征患者中的比例分别为89.7%和18.5%(P＜0.01).在22q11微缺失综合征患者中,先天性心脏病以法洛四联征最多见,心外异常则以面容异常、学习困难和生长发育落后多见.结论 22q11微缺失综合征与先天性心脏病有关.

Abstract：

Objective To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease. Methods Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization (FISH) were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization. Results 22q11 microdeletion syndrome was detected in 39 subjects. The incidence of 22q11 microdeletion syndrome was 1.6% in suspects with simple congenital heart disease without extracardiac manifestations, 53.0% in suspects with congenital heart disease combined with at least two extracardiac manifestations, 3.8% in suspects without congenital heart disease.The incidence of congenital heart disease in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 94.9% and 54.2%(P<0.01). The incidence of congenital heart disease combined with at least two extracardiac manifestations in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 89.7% and 18.5%(P＜0.01).In 22q11 microdeletion syndrome patients, Tetralogy of Fallot was the most common type of congenital heart disease. Dysmorphic faces, learning difficulties and retarded physical development were the most common extracardiac manifestations of the congenital heart disease patients. Conclusion 22q11 microdeletion syndrome is related to congenital heart disease.     

Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study.

OBJECTIVE: To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy. MATERIAL: Necropsies were performed on 815 fetuses-448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)-during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed. RESULTS: Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%). CONCLUSIONS: Fetal congenital heart malformations are common. These defects are often associated with other cardiovascular and extracardiac malformations, as well as with chromosome anomalies. Complex heart defects such as AVSD, HLH, and DORV are frequent in fetuses, as they often lead to spontaneous abortion or stillbirth or, after prenatal diagnosis, to deliberate termination of pregnancy.     

Cytogenetic studies and their prognostic significance in agnogenic myeloid metaplasia: a report on 47 cases

Cytogenetic analysis was performed in 47 newly diagnosed patients with agnogenic myeloid metaplasia (AMM); 32 had a normal karyotype (68%, group I), whereas 15 had clonal abnormalities (32%, group II). The most frequent abnormal findings were a 20q- deletion in six cases (either alone or within complex anomalies), interstitial 13q- deletion in three cases (and monosomy 13 in one case), and acquired trisomy 21 or 21p+ in three cases. Four cases exhibited complex aberrations involving several chromosomes, sometimes with a mosaicism. In two patients with an initial abnormal karyotype, further cytogenetic analysis during the disease course showed the appearance of additional clonal anomalies, and particularly of a probable Philadelphia (Ph1) variant in one case. Treatment was essentially supportive. Survival was significantly shorter in group II (median, 30 months) compared with group I (median, not reached at 6 years; P = .015). In univariate analysis, other parameters significantly associated with a poor prognosis (P less than .05) were higher age, anemia, and increased percentage of circulating blasts. However, in a multivariate analysis, only cytogenetic abnormalities and age retained their independent prognostic value.     

中国内地先天性室壁瘤和憩室临床特征文献的统计分析

目的 分析中国内地报道的先天性室壁瘤和憩室的临床特征。方法 通过检索万方数据库、中国知网全文数据库及PubMed数据库,获取2001年1月至2009年12月中国内地报道的先天性室壁瘤和憩室的文献资料,并对其临床特征进行分析。结果 共检索到符合要求的文献109篇,患者共116例,年龄l～80(33.5±21.3)岁,男性78例。先天性室壁瘤25例,其中包括一个家系的患者4例,男性13例;先天性憩室91例,男性65例。100例患者因体检或胸闷不适通过超声心动图检查出先天性室壁瘤和憩室。合并心内先天性缺陷34例,其中同时合并心外先天性缺陷4例。合并室性心律失常8例,血栓形成8例,心脏破裂2例,猝死4例（包括家系患者3例）。外科治疗46例,射频消融治疗3例,所有患者均未置人埋藏式心律转复除颤器。结论 先天性室壁瘤和憩室是一种罕见的先天性疾病,无症状患者可通过超声心动图检查发现。患者可能出现室性心律失常、血栓栓塞、室壁瘤或憩室破裂、猝死等病情,需要积极干预。     

Extracardiac malformations associated with congenital heart disease

The incidence of significant extracardiac malformations was determined in a combined clinical and autopsy study comprising 1000 infants and children with congenital heart disease treated and lost at the Children's Hospital in Helsinki. There were 567 boys and 433 girls. 1/4 of the children had a birthweight of 2500 g or less. 850 children were under 1 yr old. Death occurred during the 1st mth of life in 546 cases. Extracardiac malformations were encountered in 439 children. They were more common in girls than in boys. The incidence of associated malformations was comparatively high in infants with a low birthweight. The noncardiac anomalies were considered main causes of death in 1/3 of the cases. Extracardiac organs were involved in the following order of frequency: alimentary, skeletal, urogenital, central nervous and respiratory system. Of the main cardiac malformations, septal defects were associated with the highest and transposition of the great arteries with the lowest incidence of extracardiac anomalies. An accumulation of some defined noncardiac malformations was observed in patients with certain heart lesions.     

Trisomy 18 associated with atrioventricular canal

We describe the clinical and necropsy findings of a newborn with trisomy 18 and atrioventricular canal. The patient also showed an aortic coarctation, a dysplasia of the common atrioventricular valve and multiple extracardiac anomalies. The atrioventricular canal, so frequent in patients with trisomy 21, is unusual in trisomy 18. The present case is the 6th of the medical literature.     

Extracardiac Complications in Adults with Congenital Heart Disease

With the increasing number of adults living with repaired, or unrepaired, congenital heart disease, there is a growing incidence of extracardiac comorbidities. These comorbidities can affect various organ systems in complex ways, and may have a significant impact on a patient's quality of life and survival. Many of these potential complications may go undiagnosed until there is already a significant bearing on the patient's life. Therefore, it is important for physicians who care for the adult congenital patient to be mindful of these potential extracardiac complications, and actively assess for these complications in their adult congenital practice. Continued research to identify modifiable risk factors is needed so that both preventative and therapeutic management options for these extracardiac complications may be developed.     

Spectrum and outcome of atrioventricular septal defect in fetal life

OBJECTIVES OF THE STUDY: to analyse the features and outcomes of different types of atrioventricular septal defects, detected during fetal life, as compared to postnatal data. MATERIAL AND METHODS: We analysed retrospectively the data concerning 82 fetuses with atrioventricular septal defect, diagnosed from 19 through 37 weeks gestation with a median of 26 weeks. In 46 cases (56.1%), the diagnosis has been made before the age of 24 weeks. RESULTS: Characteristics of the series--in 44 fetuses the atrioventricular septal defect was not associated with other cardiac anomalies, while 38 fetuses had a more complex form. Chromosomal anomalies were present in 33 of the fetuses (40.2%), more frequently in cases without associated intracardiac defects (56.8%). Trisomy 21 occurred in just over one quarter the series, and in 43.2% of cases without associated defects. In addition, 11% of fetuses had trisomy 18, and one had trisomy 13. Extracardiac anomalies were present in 12 of the fetuses (14.6%), more frequently in cases without associated abnormalities. Of fetuses with more complex defects, 46.4% had hypoplasia of the left ventricle and aorta. Complete atrioventricular block was present in 10 of the fetuses (12.2%), mainly in fetuses with other malformations, and particularly with left isomerism. Recurrence of congenital heart disease was observed in 5 of the fetuses (6.1%). OUTCOME: In 25 instances (30.5%) the parents opted for termination of pregnancy. Of 57 cases that continued through pregnancy, 9 fetuses died prior to term (15.8%), 32 died postnatally (56.13%) and only 16 fetuses (28.1%) survived. Overall, the mortality was higher in cases with associated malformations, in those with heart failure or those with atrioventricular block. Cardiac surgery was performed in 19 infants, with 5 dying postoperatively, and one late. CONCLUSIONS: Our data show a high prevalence of atrioventricular septal defect associated with other malformations when diagnosed during fetal life. This combination is less frequently associated with chromosomal and extracardiac anomalies, but more often with obstructive lesions of the left heart and with atrioventricular block. The association results in a less favourable outcome.     

Novel application of four-dimensional sonography with B-flow imaging and spatiotemporal image correlation in the assessment of fetal congenital heart defects

Aims: To evaluate the role of four‐dimensional (4D) ultrasound with B‐flow imaging and spatiotemporal image correlation (STIC) in the evaluation of normal fetal heart and congenital heart disease during pregnancy. Methods: Volume data sets of the fetal heart were acquired with automated transverse and longitudinal sweeps of the anterior chest wall. We studied 31 normal fetuses and 28 fetuses with congenital heart disease (6 with double‐outlet right ventricle, 5 with complete transposition of great arteries, 8 with tetralogy of Fallot, 3 with right aortic arch, 2 with persistent left superior vena cava, 3 with truncus arteriosus communis, and 1 with interruption of aortic arch) at gestation ages ranging from 18 to 39 weeks using transabdominal 4D B‐flow sonography with STIC (4D BF‐STIC). Results: Four‐dimensional BF‐STIC demonstrated dynamic angiographic features in both normal and abnormal fetal hearts. Four‐dimensional BF‐STIC images could not be obtained in two normal fetuses at 18.9 and 35.6 weeks because of the high fetal heart rate and inappropriate fetal position. Of the other 29 fetuses all extracardiac vessels such as aorta, pulmonary artery, ductus arteriosus, inferior vena cava, and ductus venosus could be detected on reconstructed images. In seven normal cases, a 4D image was recorded to allow simultaneous visualization of all four pulmonary veins. In the 28 fetuses with cardiac anomalies, 4D sonography with B‐flow imaging and STIC detected the “digital casts” of the outflow tracts, great arteries, and veins draining into the heart. These results demonstrate spatial relationship among these structures which provide important anatomical information. Conclusion: Four‐dimensional BF‐STIC provides a means of real time three‐dimensional evaluation of fetal extracardiac hemodynamics in the second and third trimesters. This novel technique assists in the evaluation of fetal cardiac hemodynamics and may play an important role in future fetal cardiac research and in the identification of anatomical features of different congenital cardiac anomalies. (Echocardiography 2012;29:614‐619)     

Outcomes of left atrial isomerism over a 28-year period at a single institution

OBJECTIVES: We determined long-term outcomes in a large cohort with left atrial isomerism (LAI). BACKGROUND: Left atrial isomerism is associated with a complex spectrum of cardiac and noncardiac anomalies that may impact on outcomes. METHODS: The records of all patients with LAI, born between 1970 and 1998, and treated at one center were reviewed. Kaplan-Meier survival was estimated, and independent factors associated with time-related death were identified. RESULTS: There were 163 patients (63% women), and extracardiac anomalies were noted in 36%, including biliary atresia in 10%. Cardiac defects included interrupted inferior caval vein in 92%, anomalous pulmonary veins in 56%, atrioventricular septal defect in 49%, pulmonary atresia or stenosis in 28% and aortic coarctation in 16%, with congenital atrioventricular block in 7%. Of 22 patients with a normal heart, 18% died of extracardiac anomalies. Of 71 patients with hearts suitable for biventricular repair, 62 (87%) had surgery, with survival of 80% at one year, 71% at five years, 66% at 10 years and 63% after 15 years. Of 70 patients with unbalanced cardiac defects suitable for single-ventricle palliation, 47 (67%) had surgery, with survival of 73% at one year, 61% at five years, 53% at 10 years and 48% at 15 years (p < 0.001). Independent factors associated with time-related death included congenital atrioventricular block, aortic coarctation, single ventricle, biliary atresia and other gastrointestinal malformations. CONCLUSIONS: Both cardiac and noncardiac anomalies contribute to a high mortality with LAI. Cardiac transplantation may need to be a considered a primary option for selected high-risk patients.     

Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).

OBJECTIVE: To analyze the frequency of chromosomal anomalies or 22q11 microdeletion in patients with congenital heart defects and other congenital anomalies; to describe the clinical phenotype of children with the 22q11 microdeletion and with chromosomal anomalies; to evaluate patients' clinical evolution; and to provide genetic counseling for families. METHODS: The study included 46 patients with congenital heart defects and other anomalies and patients with a phenotype consistent with 22q11 microdeletion observed between 1999 and 2001. Confirmation of the heart defect was accomplished through echocardiography, magnetic resonance angiography or cardiac catheterization. Karyotyping with high resolution banding and detection of 22q11 microdeletion with FISH techniques were performed. We excluded patients with trisomy 21, 13 and 18, 45,X and deletion of 7q11.23. Patients with 22q11 microdeletion underwent immunology studies and evaluation of parathyroid function. Clinical evolution was evaluated. Chromosome and FISH studies were performed on parents of affected children (25 couples). RESULTS: Forty-six children were included, of whom twelve (26.1%) had chromosomal anomalies (group A), fourteen (30.4%) had 22q11 microdeletion (group B) and the remaining twenty (43.5%) had normal karyotype and negative FISH studies (group C). In group A septal heart defects predominated. This group had significant morbidity, with surgical correction in three patients, early development of pulmonary hypertension, failure to thrive and serious neurological problems. Two patients died. In group B conotruncal heart defects (7/14) and ventricular septal defects (5/14, two associated with cervical aortic arch) predominated. The most significant morbidity was related to cardiac pathology, with surgical correction in seven cases (50%). Immune function defects and parathyroid function problems were mild, requiring no therapeutic measures. One patient died. CONCLUSION: In the presence of heart defects associated with other congenital anomalies, karyotyping is mandatory and if clinical features are compatible, 22q11 microdeletion should be specifically sought with FISH techniques. Detection of chromosomal anomalies has a significant impact on prognosis and follow-up of patients, as well as on genetic counseling of families.     

Down Syndrome with Complete Atrioventricular Septal Defect,Hypertrophic Cardiomyopathy,and Pulmonary Vein Stenosis

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome—an apparently unique combination. In addition, we discuss the relevant medical literature.     

心外管道全腔肺动脉连接术在复杂先心病中的应用

目的：总结心外管道全腔肺动脉连接（total cavopulmonary connection,TCPC）术治疗复杂先天性心脏病的临床经验。方法：2002年1月～2011年5月,采用外管道TCPC术矫治复杂先天性心脏病47例（病种包括三尖瓣闭锁、单心室、肺动脉闭锁、右心室发育不良、右室双出口）患者,手术年龄（8±4）岁。一期手术25例,分期手术22例。结果：术后早期（术后1月）死亡4例（8%）。死亡原因：多脏器功能衰竭、心脏骤停、感染、蛋白丢失性肠病和低心排。术后早期并发症发生率为17%,主要为肺水肿3例、胸腔积液2例、心律失常1例、心包积液1例、蛋白丢失性肠病和低心排1例。术后均随访,随访时间9～87月。远期再住院率为9%（4/43）,再次手术7%（3/43）。2例再次出现胸腔积液,2例因自行停服肠溶阿司匹林后出现外管道堵塞再次手术,1例于术后出现低心排死亡。其余患者恢复良好。结论：对于适应证明确的复杂先天性心脏病患者行心外管道TCPC手术治疗,近期临床效果满意。     

The incidence of urinary tract malformations in congenital heart disease

A statistically significant number of congenital heart disease patients were evaluated for urinary tract anomalies. Twelve percent (160 cases among 1340 patients) had such associated anomalies. However, no association between a specific congenital heart disease and a particular urinary tract anomaly could be found. The results were very similar to those reported in clinical series, but slightly higher than those found at autopsy. The percentage of urinary tract malformations varied over a wide range, with some congenital heart disease having a much higher association than others. However, the total average incidence of urinary tract malformation was similar to that of the general population.     

The role of cross sectional echocardiography and pulsed Doppler ultrasound in the management of neonates in whom congenital heart disease is suspected. A prospective study

The application of cross sectional echocardiography and pulsed Doppler ultrasound to the management of symptomatic neonates with suspected congenital heart disease was studied in 96 consecutive cases. The ability of echocardiography to establish a complete and accurate diagnosis and a correct management plan was evaluated. Sequential segmental analysis of data from cardiac catheterisation and necropsy identified 536 cardiovascular anomalies. Of the 536 anomalies 512 were correctly diagnosed by echocardiography (sensitivity 95.5%). Seven false positive echocardiographic diagnoses were made (specificity 98.6%). Nearly all the missing diagnoses and all the false positive diagnoses made by echocardiography were extracardiac vascular anomalies. Normal cardiovascular anatomy was at all times correctly identified by echocardiography. In 12 babies (12.5%) a management plan could not be established because of inconclusive echocardiographic findings. Of the 84 proposed plans based on the echocardiographic findings, eight were found to be inappropriate after catheterisation. Thus, 76 babies (79.2%) could have been correctly managed without cardiac catheterisation. The combination of cross sectional echocardiography and pulsed Doppler ultrasound not only allows diagnosis of congenital cardiac anomalies in most neonates but can facilitate appropriate clinical management. Only a minority of neonates with suspected congenital heart disease require cardiac catheterisation and angiography.