We investigated the catheterization and angiographic findings of 26 patients with Williams‘ syndrome to evaluate the natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis. The severity of the stenosis was correlated with age and body surface area in terms of the pulmonary arterial index, right ventricular systolic pressure, sinutubular ratio(ratio of measured to mean normal diameter of sinutubular junction), and systolic pressure gradient across the sinutubular junction. In patients with pulmonary arterial stenosis (n=20), right ventricular systolic pressure tended to decrease, and pulmonary arterial index increased, with increase in age and body surface area. Between the groups with and without pulmonary arterial stenosis, there was significant difference in age (mean 4.70 vs. 9.87, p = 0.019), body surface area (0.62 vs. 1.16, p = 0.002), pulmonary arterial index (152 vs. 317, p=0.002) and right ventricular systolic pressure (73.9 vs. 33.0, p=0.006). As all patients showed similar diameters at the sinutubular junction regardless of age and body size, sinutubular ratio decreased with increases in age and body surface area. The group with abnormal coronary arteries (n = 7) had smaller sinutubular ratio (0.46 vs. 0.61, p=0.021) and higher pressure gradients between the left ventricle and the aorta (67.6 vs. 42.2, p=0.023) than did the group with normal coronary arteries. Stenosis of a coronary artery, or a branch of the aortic arch, was observed only in three patients with diffuse aortic stenosis.

Our results suggest that, with time, peripheral pulmonary arterial stenosis tends to improve, and supravalvar aortic stenosis to progress. Failure of growth of the sinutubular junction might be responsible for the progression of the aortic lesion. Progression of the aortic lesion may be associated with involvement of the coronary arteries.

We reviewed 22 cases of primary pediatric cardiac tumors followed at our institution from January 1981 through November 1997, analyzing them by subtype, age and manner of presentation, location, associated findings, interventions, and clinical course. Rhabdomyomas were the most common (11), followed by intrapericardial teratomas (2), myxomas (1), fibromas (1), hemangiomas (1), mesotheliomas (1), and rhabdomyosarcomas (1), with 4 undetermined tumors. The majority (77%) of tumors were diagnosed before the age of one year, including six prenatally. The most common presentations were murmurs (5), arrhythmias (5), and abnormal screening fetal ultrasound examinations (4). Tumors were located most frequently in the right ventricle (13) and left ventricle (7), with multiple tumors being present in 10 cases. Eight patients (36%) had associated arrhythmias or conduction abnormalities, and of the 11 patients with rhabdomyomas, tuberous sclerosis was diagnosed in 8. Eight patients underwent cardiac catheterization, including two for electrophysiologic study with radiofrequency ablation, and seven patients had complete or partial tumor resection. The follow-up period ranged from 2 months to 15 years, and there were 3 tumor-related deaths. Therefore, despite the benign histology of most primary pediatric cardiac tumors, there may be significant associated morbidity and occasional mortality. As echocardiographic techniques such as fetal ultrasonography have continued to improve, however, these cardiac tumors have increasingly been detected early before significant symptoms develop.

Over recent years, echo-Doppler cardiography has shown that a small, sometimes silent, arterial duct exists in more patients than previously recognized. To know the incidence of an arterial duct subsequent to therapy, we studied retrospectively our patients undergoing open-heart surgery and surgical or catheter closure. Three groups of patients were studied: those with patency of the duct subsequent to open heart surgery without any sign of patency before or during surgery, those with persistent duct after surgical ligation and those with persistent patency after attempted catheter occlusion with the Rashkind device. In the first group (of 431 children) four (0.9%) had persistence of this duct, of which three were silent. In the second group, patency persisted in four of 100 patients (4%), three being silent. In the last group there were five persisting shunts, three producing no murmur, in 30 patients (17%). We compared our results with those reported in the literature and conclude that echo-Doppler cardiography is needed to detect persistent shunting across a duct after therapy, since most of the residual ducts in this study were silent. This means that clinical findings alone cannot be relied upon, and careful echo-Doppler cardiography is essential. Also, the process of closure of a persistent duct by surgical ligation or transcatheter intervention is no guarantee of success. The risk of infective endocarditis is important in such persistent ducts and, at present, it is unknown either for a small, silent duct or in a persistent duct that remains open after attempted transcatheter closure, but now is in association with a foreign body.

We report two autopsy proven cases of unguarded mitral orifice associated with mirror-imaged atrial arrangement, discordant atrioventricular connections, double outlet right ventricle, pulmonary valvar stenosis or atresia, and atrialisation of the morphologically left ventricle. The morphologically left atrioventricular junction was devoid of valvar leaflets, and there was no tension apparatus within the ventricle. To the best of our knowledge, this is the first description of this rare cardiac malformation

In recent years, percutaneous placement of stents has been used as an alternative to surgery or balloon angioplasty for the treatment of adults with peripheral pulmonary arterial stenosis. This therapy has also been proposed for children, but questions still remain about its indications in this group of patients. We describe here the results of intravascular placement of stents in a group of 29 patients, with a mean age of 12±7 (range 3–31) years and weighing 35 ±19 (range 11–74) kg. All were affected by postsurgical or congenital isolated pulmonary arterial stenosis, and have now been followed for 38 ±19 (range 6–65) months. The early hemodynamic results have been excellent, with a significant reduction of the pulmonary arterial systolic pressure, the systolic pressure gradient, and the ratio of systolic pressures in the pulmonary and systemic circuits, and with a significant increase of the diameter of the stented vessels in all the patients. Of the 29 patients, 24 have been recatheterized 18 ± 10 months after the procedure, demonstrating the stability of the results, with a low incidence of late restenosis, this seen in only 1 patient (2°). Lung perfusion scanning, performed in 17 patients each year after the follow-up catheterization, has showed that the results are maintained at long-term follow-up (51 ±9 months).

Continuous monitoring of cardiac output in neonates would be of considerable benefit but, as yet, there is no practical method to achieve this aim. We have now evaluated the feasibility of using an intra-aortic Doppler probe. We introduced a pulsed Doppler probe of 0.46 mm diameter via the umbilical artery in two term and four preterm neonates. Indications in all patients for umbilical arterial catheter is always an unstable cardiopulmonary state. Body weights were between 770 and 3340 g. Velocities of blood flow in the thoracic aorta were continuously recorded to estimate cardiac output on-line for 12 h. No complications were encountered. It proved possible to derive high-quality Doppler curves. The received Doppler signal was stable but it proved sensitive to pathophysiologic changes in flow. Mean velocity of flow in the descending aorta was 16.4 cm/s (range 13.3_19.0 cm/s). We quantified flow by multiplying the mean velocity of the flow by the cross-sectional area of the descending aorta. Calculated mean flow was 135 ml/kg/min (range 111–179 ml/kg/min). These values are consistent with those measured by transcutaneous Doppler, and it should not be raised by left-to-right ductal shunts. This pilot study proved the feasibility of continuous monitoring of cardiac output. The technique should prove of great value in those infants with unstable circulatory conditions, and can be used even in infants with extremely low birth weights.

Congenital heart diseases have been studied much more extensively in children than in neonates. In this study, we report on the findings from 57 neonates seen from June of 1995 through June 1996 in the nursery of a large public hospital in Belém, Para, Brazil. All were routinely examined by a paediatrician just after birth, and, when indicated, these babies were referred to the cardiology unit of our Hospital for assessment by a paediatric cardiologist. Most of the diagnoses were made by means of Doppler and cross-sectional echocardiography with color flow mapping. Several abnormalities of the cardiovascular system were diagnosed. The most frequent was patency of the arterial duct. But, since many ducts closed spontaneously, ventricular septal defect was the most frequent lesion seen even in the nursery. Four defects (patent arterial duct, ventricular septal defect, atrial septal defect and pulmonary stenosis) together accounted for two thirds of all cardiac abnormalities. Associated non-cardiac anomalies were more frequent in those with simple lesions within the heart. All the babies with complex heart disease, and the majority of those designated as having significant lesions, died before they could be discharged. Several risk factors were investigated. Among maternal drugs, misoprostol emerged as having a possible teratogenic effect.

This study was carried out to analyse seasonal variations in live births with congenital heart disease in the overall population of Malta. Included were all patients diagnosed as having congenital heart disease by echocardiography, cardiac catheterization, surgery or post mortem, by 1 year of age, and who were born between in Malta between 1990 and 1994. Results were analysed by χ2 and by Edwards' cyclic method. There were 231 cases of live born congenital heart disease, which were divided into 114 cases not requiring intervention and 117 cases requiring intervention. Although the overall prevalence of congenital heart disease did not demonstrate any seasonal variation, the lesions requiring intervention showed a significant peak in September by Edwards' method (p = 0.03), which was enhanced by seasonal analysis (p = 0.003). These results were confirmed by conventional χ2 and χ2 for trend. The lesions not requiring intervention, which were comprised almost entirely (96%) of mild pulmonary stenosis and small ventricular septal defects, failed to show any seasonal trend. The literature regarding such seasonal trends in these malformations and statistical analysis of seasonality of congenital heart disease are reviewed. An environmental factor such as a maternal viral infection or treatment of such infections during the first trimester of pregnancy from November to January may precipitate congenital heart disease in predisposed Maltese foetuses.

We present the aims, methodology and initial results from the Italian Multicentric Study for the registration and follow-up of congenital heart disease. The general aims are to measure the prevalence of congenital heart disease in different geographic areas of Italy, and to assess the survival and outcome of affected babies. During the years 1992 and 1993, eighteen centers for Pediatric Cardiology spread all over the Country enrolled 1445 new babies with congenital cardiac malformations from a population of 341, 647 surveyed livebirths. The new cases were registered using the same methodologic criterions of the EUROCAT study in order to evaluate differences and/or similarities between the studies. The prevalence varied between 1.8‰ and 8.1‰; the average being 4.6%. The large range in prevalence is presumed to be related to different customs and hierarchies in flow and referral of patients. We provide total prevalence of individual lesions, and distribution of sentinel cardiac anomalies, in the Italian study and compare them with EUROCAT. Isolated ventricular septal defect is the most common lesion (39%); followed by atrial septal defect (7.5%); pulmonary valvar stenosis (7.3%); atrioventricular septal defects (5.4%); patency of the arterial duct (3.8%); complete transposition (3.7%); tetralogy of Fallot (3.3%); aortic coarctation (2.4%); aortic valvar stenosis (2.2%); and left heart hypoplasia (1.8%). The echographic stratification of ventricular and atrial septal defects, by location and size, was in keeping with the findings of the EUROCAT study. Because of the recent widespread availability of color-Doppler tecniques, the stratification of aortic and pulmonary valvar stenosis was an innovative approach in our study. Among the complex cardiovascular anomalies, double inlet ventricle and pulmonary atresia had a proportion of about 2% each; with double outlet right ventricle, common arterial trunk, Ebstein's malformation, tricuspid atresia, interrupted aortic arch and totally anomalous pulmonary venous connection having a proportion ranging from 0.5 to 0.8%. We discuss clinical features, such as frequency of extracardiac anomalies and familial aggregation of congenital heart disease, in comparison with the EUROCAT data.

In a population-based study of 35,218 infants born alive during the 15 years from 1982 to 1996, 353(1%) were diagnosed as having a congenital heart defect, of whom 84 (24%) were diagnosed subsequent to discharge from hospital after birth (2.4/1000). Of these, 40 (48%) had a ventricular septal defect, 14 (17%) an atrial septal defect, 9 (11%) a patent arterial duct, 8 (10%) an aortic stenosis and 13 (15%) other defects. Compared with those in whom diagnosis was made before discharge, the group of patients with defects detected late had an increased prevalence of atrial septal defects, patent arterial duct and aortic stenosis, but less decreased prevalence of ventricular septal defects (p < 0.05). Median age at detection of the defects subsequent to discharge was 6 months (range 2 weeks–11 years). Seven patients (8%) presented with clinical symptoms of cardiac decompensation. The mortality rate was significantly lower in those in whom defects were detected late (1/84; 1%) as compared with those detected immediately after birth (37/269; 14%) (p < 0.05). The total rate for early detection was the same after using one clinical examination (8.2/1000) of newborns as our basic routine instead of two (7.1/1000) (p > 0.05). A substantial proportion of congenital cardiac malformations are detected after discharge from hospital after birth. Some patients with these lesions present with cardiac decompensation and are in need of medication and surgery. One clinical examination of newborns detects congenital malformations of the heart as efficient as two.

Normalization of the dimensions of cardiac structures to the size of the body, using so-called Z scores, is becoming increasingly common in the management of infants and children with congenital heart disease. Current published nomograms for the ascertainment of Z scores for cardiac structures in childhood are based largely on normal data obtained in formalin-fixed hearts. Since decisions concerning management are frequently based on the findings of cross-sectional echocardiograms, the dimensions of 15 cardiac structures were measured using cross-sectional echocardiography in 125 normal infants and children. Regression equations were derived relating cardiac dimensions to the size of the body. The expression of size with the highest correlation to cardiac dimensions was body surface area. Nomograms were then developed from which the Z score of a cardiac structure could be estimated from a knowledge of the body surface area and the echocardiographically derived measurement.

Our study is based on the examination of 2,000 aortic valves obtained from fresh cadavers (1,499 males, 501 females) at the Institute of Forensic Medicine in Rio de Janeiro. We discovered 13 valves having two leaflets, giving a prevalence of 0.65%, much lower than generally reported in the literature. All 13 valves were from males, 10 from whites, three from mulattos, and none from blacks. Special attention was given to the raphe and the leaflets, the calcification of which can lead to stenosis. The only valves with normal texture and flexibility were two obtained from children less than one year old. All the other valves were thickened, and five of them had some degree of calcification. Six valves were judged to be functioning normally, while 7 valves were abnormal, 5 being stenotic and two showing evidence of insufficiency. The insufficiency in one was due to endocarditis, but in the other was due to redundancy of the leaflets. The only other cardiac anomaly discovered in these 13 cases was one patient with aortic coarctation. Bifoliate aortic valve, therefore, is probably the most common cardiac anomaly, although its prevalence as discovered in Brazil is lower than that reported in the literature. It affects mainly white males. After the fourth decade of life, most valves present some thickening, with stenosis being the most common complication. As is well recognised, infective endocarditis and aortic insufficiency are the other frequent complications. It is in general, nonetheless, an isolated anomaly.

Banding of the pulmonary trunk is an important surgical procedure for patients who have con genital cardiac malformations with unrestricted pulmonary flow. We propose a new concept for determining in such circumstances the most appropriate length of the band used to constrict the pulmonary trunk in preparation for a Fontan operation. We studied 14 patients undergoing banding of the pulmonary trunk and measured the following parameters: diameter of aorta, diameter of pulmonary trunk, length of pulmonary arterial band and maximum flow velocity across the banded segment. We calculated an index from our orig inal parameter based on the formula; length of band/(diameter of aorta diameter of pulmonary trunk). The diameter of aorta was 9.5 ± 1.4 mm, and that of the pulmonary trunk was 9.6 ± 2.3 mm. The length of the band was 16.5 ± 3.4 mm, giving a calculated index of 0.188 ± 0.038. The maximum flow velocity was 4.02 ± 0.46 m/s. No correlation was found between the length of the band and body weight, and also no correlation was found between the length of the band and maximum flow velocity. The calculated index had a negative correlation with the maximum velocity of flow across the band (y = -8.13x + 5.56, R = 0.74, p < 0.01). We believe that the proposed index is a useful guide in determining the length of a pulmonary band when preparing patients for a Fontan operation.