Holt-Oram综合征的诊断与治疗:附14例报告

为了探讨Holt-Oram综合征的临床特点和治疗方法，对1990年1月-2000年5月收治的14例患者进行回顾性分析。14例患者的心脏改变均通过心脏超声心动图、心电图、X线胸片诊断，其中10例复杂或复合先心病患儿通过心导管检查确诊；肢体畸形主要靠体检和X线检查。2例在学龄前选取心导管介入治疗，1例重度肺高压患儿在5个月时行外科手术，1例法洛四联症合并缺氧发作患儿在15个月时行根治手术，另有3例在学龄前期行根治手术均获得较好疗效。治疗方案和手术时机的选择主要取决于先心病的严重程度；肢体畸形可以行外科矫形手术。     

Early diagnosis of congenital heart disease

Routine examination of apparently healthy newborn babies detects less than half of those with congenital cardiac malformations because they are asymptomatic and without signs. More severe cardiac malformations are not detected more easily. A normal clinical examination does not exclude serious congenital cardiac malformation. Left heart obstruction is easily overlooked but often causes serious deterioration in less than 3 weeks. It is important to arrange early echocardiography of babies with signs and to consider cardiac malformation in a sick baby even if a previous routine examination was normal. All babies with Down syndrome should have early expert cardiological assessment.     

Diagnostic value of chest radiography and electrocardiography in the evaluation of asymptomatic children with a cardiac murmur

We investigated the diagnostic value of the chest radiograph and ECG in the evaluation of whether asymptomatic children with a cardiac murmur had a heart disease as defined by echocardiography. One hundred children aged 1 month to 15 years (median 30.1 months) were included. After physical examination, a tentative diagnosis was made: 53 children had no heart disease, 24 had a probable heart disease and 23 children were thought to have heart disease on the basis of clinical assessment alone. After information from chest radiography and electrocardiography was obtained, the diagnoses were re-evaluated. This resulted in a change of the tentative diagnosis in three children. However, the diagnosis in relation to the definite diagnosis by colour Doppler echocardiography was not changed to the correct diagnosis in any of these cases. In 24 cases, radiography suggested the presence of heart disease; however, only 10 of these had heart abnormalities on the colour Doppler echocardiogram (CDE). Three children had an abnormal ECG; all of these had abnormalities on the CDE, but they were already diagnosed as having heart disease by physical examination. We conclude that chest radiography and electrocardiography is of no help in the discrimination between heart disease and no heart disease in asymptomatic children referred for a cardiac murmur.     

Neonatal ECG screening for congenital heart disease in Down syndrome

We studied the value of routine neonatal electrocardiography (ECG) in the 1st 48 hours of life to diagnose congenital heart disease in 37 neonates with Down syndrome. Twenty-four infants had no clinical evidence of congenital heart disease, had normal ECGs and normal cardiac anatomy on echocardiography. Thirteen children (35.2%) had congenital heart disease. The ECG was normal in seven infants with congenital heart disease: four with atrial septal defect (ASD), two with tetralogy of Fallot (TOF) and one with ventricular septal defect (VSD). A left QRS axis deviation was found in six infants: five with complete atrioventricular septal defect (AVSD) and one with VSD and mitral valve prolapse. However, only the five infants with complete AVSD had a superior QRS axis. Although neonatal ECG detected the presence of complete AVSD in neonates with Down syndrome, it missed an equal number with other heart defects. Echocardiography remains the way reliably to diagnose or exclude congenital heart disease in these infants.     

Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study

The Baltimore-Washington Infant Study is a population-based case-control study that seeks to identify risk factors for cardiovascular malformations. Between 1981 and 1986, a total of 2102 infants with cardiovascular malformations were ascertained, among whom 271 (12.9%) also had a chromosome abnormality. Among 2328 random control subjects, only two had a chromosome abnormality. Down syndrome with cardiovascular malformations had a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population. Endocardial cushion defect, the predominant cardiac abnormality in Down syndrome (60.1%), rarely occurred as an isolated cardiac lesion (2.8%). The absence of transpositions and the rarity of heterotaxias and of right- and left-sided obstructive lesions in trisomies indicate that there may be a genetic influence on specific embryologic mechanisms. Alimentary tract lesions were more common in Down syndrome than among euploid patients with heart disease and more severe than in control subjects. Urinary tract lesions also occurred in excess of the rate in control subjects. The coexistence of these major malformations with heart disease raises the possibility of incomplete expression of the VA(C)TER (vertebral, anal, cardiac, tracheal, esophageal renal) association. The selective association of chromosome abnormalities with certain cardiovascular defects is now beginning to be explained by reported embryologic studies on cellular characteristics. An explanation of the negative association with transposition and obstructive lesions requires further multidisciplinary studies on genetic and epigenetic factors.     

The pulmonary vascular bed in children with Down syndrome.

Sixty-nine children with Down syndrome (mongolism, trisomy 21), with atrial septal defect, patent ductus arteriosus, ventricular septal defect, or endocardial cushion defects, and 315 children with similar cardiac anomalies without this syndrome underwent cardiac catheterization during an 8-year period from 1964 to 1973. Only patients under 17 years of age were included in the study. Nine tenths of the children with Down syndrome but only one fourth of the control group had abnormally high pulmonary arterial pressures. For example, 9 of 11 children with defects of the atrial septum and Down syndrome had pulmonary hypertension; in contrast, only 5 of 55 control subjects with similar defects had pulmonary hypertension. The data suggest that children with congenital heart disease and Down syndrome have an unusually high pulmonary vascular resistance and a propensity for early development of severe damage to the pulmonary vascular bed.     

Cardiac Spectrum,Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study

Objective

To describe the spectrum of congenital heart disease in children with Down syndrome and their cytogenetic profile (and that of parents of those with translocation), and thyroid profile.

Methods

A cross sectional study was conducted in 418 consecutive patients with Down syndrome attending the Department of Pediatric Genetics from a tertiary care centre in Kerala with a comprehensive Pediatric Cardiac Program, from November 2005 through April 2012. All children were offered cytogenetic analysis and were subjected to echocardiography. Parental karyotyping was offered for children with translocation type of Down syndrome. The thyroid profiles of all children were checked at the first visit and once every 6 mo during follow up.

Results

Congenital heart disease was present in 256 (63.4 %) of 404 children with Down syndrome. Ventricular septal defect (72; 28.1 %) was the commonest, followed by atrio-ventricular septal defect (70; 27.3 %) and patent ductus arteriosus (43; 16.8 %). Surgical correction was accomplished in 104 (40.6 %) with excellent intermediate-term outcomes. Three hundred eighty seven of 418 children (92.6 %) underwent cytogenetic tests. The abnormalities included non-disjunction (340, 87.8 %), translocation (33, 8.5 %) and mosaicism (12, 3.1 %). Hypothyroidism was detected in 57 children (13.6 %).

Conclusions

The prevalence of congenital heart disease in children with Down syndrome in Kerala is the highest reported (63.4 %). Ventricular septal defect is the most common heart disease in the present study. The results highlight the changing attitudes of families towards the surgical correction of congenital heart disease in children with Down syndrome. Prevalence of hypothyroidism in Down syndrome in Kerala is 13.6 %.     

Echocardiography in children with Down syndrome

Congenital heart disease is a common problem in children with Down syndrome (DS). Echocardiography plays an important role in the detection of both structural and functional abnormalities in this group of patients. Fetal echocardiography can help in the early recognition of DS by detecting soft markers of DS, but its main role is to define the exact nature of the suspected cardiac problem in the fetus. Postnatal echocardiography is mandatory in the first month of life for all neonates with DS. It is also indicated before any cardiac surgery and for serial follow-up after cardiac surgery. In this article, we discuss the types and mechanism of cardiac abnormalities in DS children and the role of both fetal and postnatal echocardiography in the detection of these abnormalities.     

Spectrum of congenital heart defects in Croatia

The aim of our study was to investigate the incidence of congenital defects in children born in Croatia during a period of 5 years, its association with extracardiac malformations, its treatment, and outcome. Medical information about the patients was obtained from 14 paediatric cardiology centres that cover the whole country. Diagnosis was made by clinical findings, electrocardiography, chest X-ray, echocardiography, catheterisation, or autopsy. Between October 1, 2002 and October 1, 2007, there were 205,051 live births in Croatia, 1,480 of which were patients diagnosed with congenital heart disease, accounting for 0.72% of the live-born children. The distribution was made up of 34.6% children with ventricular septal defect, 15.9% with atrial septal defect, 9.8% with patency of arterial duct, 4.9% with pulmonary valvar stenosis, 3.3% with tetralogy of Fallot, 3.3% with transposed great arteries, 3.3% with aortic stenosis, 3.2% with aortic coarctation, 4.3% with atrioventricular septal defect and common atrioventricular orifice, 2.3% with hypoplastic left heart syndrome, and 8.3% other with severe defects. The average age in the time of diagnoses is 70.41 days (SD, 188.13), with low average time of diagnoses of severe heart defects, 9.6 days (SD, 32.52). Among patients, 14.5% had chromosomal defects, syndromes, and/or other congenital major anomalies. During the study, 57 patients died because of cardiac anomalies or other related problems, 24 who died were operated. The rates of specific cardiac defects and association with extracardiac malformations are generally comparable with those reported in similar studies. In spite of all problems, mortality rate of 3.85% is low but could be improved.     

Ventricular septal defect in Down syndrome. Anatomic types and associated malformations

Ventricular septal defect is a common cardiac anomaly in Down syndrome. To detect the prevalence of anatomic types and associated cardiac malformations we analyzed the echocardiographic and angiocardiographic findings of 73 children with ventricular septal defect and Down syndrome. We compared these results with those obtained in 303 patients with ventricular septal defect without Down syndrome. The prevalence of inlet ventricular septal defect was significantly higher in patients with Down syndrome, while muscular and subpulmonary ventricular septal defects were present only in patients without Down syndrome. The incidence of a cleft of the mitral valve was significantly higher in Down syndrome, while left-ventricular inflow and outflow obstructions were present only in patients without Down syndrome. Different patterns of ventricular septal defect and associated anomalies exist in patients with and without Down syndrome.     

Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome

The atrioventricular canal is the "classic" congenital heart anomaly in Down syndrome. We may learn more of the nature of this disorder by careful study of the anatomic characteristics of the cardiac lesions and by comparing these lesions in patients with and patients without Down syndrome. We reviewed the clinical characteristics (echocardiographic and angiocardiographic) of 220 patients with atrioventricular canal and compared the prevalence of anatomic types and associated cardiac malformations in children with (105) and without (115) Down syndrome. In patients with Down syndrome, the complete form of atrioventricular canal was prevalent, with a high frequency of associated Fallot's tetralogy. Partial atrioventricular canal and left-sided anomalies were more common in patients without Down syndrome. Down syndrome is associated with a simpler type of atrioventricular canal when compared with patients with a normal chromosome configuration.     

Congenital heart disease and down syndrome (author's transl)]

It is reported about 61 children and literature of congenital heart disease and Down syndrome. Even for the cardiologist the heart malformations has to be seen only as a part of the disturbance of the whole individuum. Therapeutic problems are discussed.     

Pericardial effusion and its relationship to cardiac disease in children with acquired immunodeficiency syndrome

Over 200 children with acquired immunodeficiency syndrome (AIDS) have been followed at our institution. We retrospectively evaluated 45 children from the above group. 26 of the 45 children had a pericardial effusion documented at echocardiography and/or at post-mortem examination. This report describes the association of pericardial effusion, myocarditis, and pericarditis in children with AIDS and the implications for imaging. Half of the children with a pericardial effusion had a normal cardiac silhouette on chest radiography. 18 children with a pericardial effusion, had associated cardiac abnormalities. These abnormalities were ventricular dilatation and/or hypertrophy, myocarditis, or pericarditis. The presence of pericardial effusion also correlated highly with pleural effusion and ascites. The presence of a pleural effusion and a pericardial effusion was almost exclusively seen in the children with cardiac abnormalities. Pericardial effusion and cardiac disease should not only be suspected in any child with radiographic signs of cardiomegaly, but be strongly suspected in any child with pleural effusions or ascites, even with a normal cardiac silhouette, especially if they are not responding to conventional medical therapy and their respiratory condition is not improving.     

Cardiomegaly—What does it mean?: A comparison of echocardiographic to radiological cardiac dimensions in children

Summary Several cardiac dimensions were estimated by echocardiography and plain chest films in 36 healthy children and 85 children with heart disease. Left and right ventricular volumes and left ventricular mass were estimated by echocardiography, and compared with the cardiothoracic ratio, cardiac frontal area, and total cardiac volume, estimated from x-rays films. In healthy children there was poor correlation between the radiological and echocardiographic estimates. In children with heart disease, there was a close correlation of radiographic total cardiac volume with echocardiographic left ventricular volume and mass, and combined ventricular volumes. Cardiothoracic ratio and cardiac frontal area did not correlate with echocardiographic data. For a more reliable evaluation of the heart size, in children as in adults, the total cardiac volume has to be calculated from both the frontal and lateral films, as estimates obtained from only a frontal film are unreliable.     

Early detection of podiatric anomalies in children with Down syndrome

Aims: To verify the importance of podiatric evaluation in patients with Down syndrome for the early diagnosis and treatment of minor orthopaedic problems. Methods: Case-control study of 50 children affected by Down syndrome (aged 4-10 y) without major orthopaedic malformations compared to 100 healthy children. A complete podiatric examination was performed on all patients and controls. Results: Children with Down syndrome showed several orthopaedic anomalies including bony deformity of the forefoot (90%), flat foot (60%), isolated calcaneal valgus (24%), knee valgus (22%) and pronated flat foot (16%). These abnormalities were responsible for postural alterations as confirmed by baropodometric examination.

Conclusion: The data demonstrated a greater incidence of minor orthopaedic alterations and suggest the necessity of regular podiatric examinations in the follow-up of this syndrome.     

Heart disease in Turner's syndrome

Fifty-five consecutive patients with Turner's syndrome and different karyotypes underwent full cardiological evaluation (physical examination, electrocardiogram, chest X-ray and echocardiogram). Congenital heart disease was found in 17%. When compared with the general population, a significantly higher incidence was present only for aortic coarctation and partial anomalous pulmonary venous drainage (p less than 0.001). Among cardiac anomalies in Turner's syndrome patients, aortic malformations (aortic coarctation, aortic stenosis, bicuspid aorta) are the most frequent, followed by partial anomalous pulmonary venous drainage, the incidence of which has been much higher than that previously reported. We have observed that the most severe malformations are preferably found in 45,X, while the ring pattern is characterized by a very high incidence of bicuspid aorta. No anomaly was found in the patients with X isochromosome.     

Celiac disease in relation to immunologic serum markers, trace elements, and HLA-DR and DQ antigens in Swedish children with Down syndrome.

BACKGROUND: An association between Down syndrome and celiac disease has been reported. This study was conducted to determine the association between childhood celiac disease and Down syndrome in the county of Uppsala, Sweden. METHODS: All 76 children with Down syndrome (1-18 years) were screened for the occurrence of anti-gliadin antibodies (AGA) and anti-endomysium antibodies (EMA). Twelve children with suspected celiac disease were investigated further. RESULTS: Increased levels of both IgA and IgG AGA were found in 26% of the children and of EMA in and 5 of 76. Celiac disease was diagnosed in at least three of the children (3.9%; 95% confidence interval 0%-8.3%), and it could have been present in as many as eight. Three of the five EMA-positive children with suspected celiac disease had the HLA phenotype DR3, DQ2. CONCLUSIONS: The results show that determination of EMA is more useful as a screening test for celiac disease and for follow-up than is AGA in children with Down syndrome. The present study also confirms that celiac disease is overrepresented among Swedish children with Down syndrome and that celiac disease should be considered in all persons with Down syndrome.     

High Association of Congenital Heart Disease with Indirect Inguinal Hernia

We evaluated 103 patients with indirect inguinal hernia (IIH) for the association of congenital heart disease by echocardiography. Congenital cardiac abnormalities were recognized in 32% of patients with inguinal hernia, which is significantly higher than that reported in a population-based study in Turkey and other population-based studies. Ventricular septal defect and valvular anomalies are the most frequently detected malformations. Our findings suggest that screening for congenital hearth disease is necessary in children with indirect inguinal hernia.     

Association of varicella,myocarditis, and congestive cardiomyopathy

Summary A retrospective study of children dying with active varicella revealed 11 of 17 cases who had unsuspected interstitial myocarditis at the time of their death.In addition, a prospective study of 6 children, consecutively admitted to the hospital with active varicella, were evaluated for evidence of cardiac dysfunction by echocardiography, ECG, and serum enzyme levels. All 6 children had Reye's syndrome in association with active varicella. Evidence of myocardial involvement, consistent with acute congestive cardiomyopathy, was documented in 4 of the 6 children.This study suggests that the heart is commonly involved in varicella infections and that cardiac involvement should be considered in children with this disease.This work was supported in part by the Dwan Family Fund and by Grant HL18204 from the National Institutes of Health, and was part of the Ray C. Anderson Symposium.     

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.