Congenital unilateral pulmonary venous atresia is a rare anatomical defect. Patients present with pulmonary symptoms, and diagnosis may be ellusive. Pulmonary arterial wedge angiography is the gold standard with which to achieve diagnosis, and surgical intervention is often required for symptomatic patients.

We reviewed 16 patients with coronary arterial fistulas seen between 1976 and 1997, and aged 2 days to 16 years, with a median age of 3.2 years. Only four patients were symptomatic: two had heart failure, one had exertional dyspnoea, and one infective endocarditis. The fistulas originated from the right coronary artery in seven patients, from the left coronary artery in seven, from both coronary arteries in one patient, while the origin was not clearly defined in the final patient. Associated cardiac anomalies were discovered in six patients, with three of the fistulas being diagnosed at the same presentation. Cross-sectional echocardiography had revealed a dilated coronary artery in 7 out of 11 subjects. The ratio of pulmonary to systemic flows ranged between 0.9 to 3.0, with a median of 1.5. Ten patients were referred for corrective surgery without any mortality. Trans-catheter closure was successfully undertaken in one patient, while spontaneous closure of the fistula was noted in two patients. We conclude that coronary arterial fistulas, although rare and potentially serious, are generally treatable.

Background: Elevation of cardiac troponin I in the serum is a specific marker for myocardial injury. We measured levels of troponin I in the serum in children before and after cardiac catheterization to determine if this procedure was associated with an increase in levels of troponin. Methods: We enrolled patients under 21 years of age undergoing cardiac catheterization at our institution. A baseline sample of serum was drawn at the start of the procedure. Repeat samples were obtained immediately after, and six hours subsequent to the procedure. All samples were analyzed for cardiac troponin I using the Abbott AxSYM microparticle immunoassay system. Levels were considered normal (0–0.4 ng/ml) or elevated (>0.4ng/ml). Patients were excluded if the baseline level was elevated. Results: Levels of cardiac troponin I were elevated in the serum from 11 of 14 (79%) cases immediately after the procedure (p < 0.0001), and in 12 of 14 (86%) six hours later (p < 0.0001). Only 2 patients had recognized complications potentially causing myocardial injury. Conclusion: Levels of cardiac troponin I increase in the serum in a high proportion of children after cardiac catheterization. These elevations can be observed immediately, and are maintained for at least six hours. Our study suggests that cardiac catheterization, predominantly intervention, is associated with myocardial injury, even in the absence of complications.

Over a decade ago, I co-authored a review in Cardiology in the Young regarding neurological outcomes following surgery for congenital cardiac disease.1 In that review, I placed much emphasis on the conduct of cardiopulmonary bypass, and its role in neurodevelopmental disabilities. Much has been learned in the intervening years regarding the multifactorial causes of abnormal school-age development, in particular, the role of prenatal, perioperative, socioeconomic, and genetic influences. In this update, I will highlight some of the recent advances in our understanding of the protean causes of neurological, behavioral, and developmental abnormalities in children and young adults with complex forms of congenital cardiac disease. In addition, I will summarize the current data on patients at particular high-risk for adverse neurodevelopmental outcomes, specifically those with a functionally univentricular heart who have had staged reconstruction with ultimate conversion to the Fontan circulation.

We examined the neonatal outcome of 644 twins weighing 500 g or more and 656 singletons, born in the years 1984-1986 in the Soroka Medical Center, Beer-Sheva, Israel. There was nearly a four-fold risk of antepartum death in twins vs singletons, which disappeared when birth weight was controlled for. The risks for intrapartum and early neonatal mortality were not raised in this population. A statistically significant relative risk for congenital heart malformations in twins vs singletons remained (RR = 5.0, 95% CI = 1.5-16.3), after controlling for maternal age. Significantly higher rates of hyalin membrane disease, hypoglycemia, hyperbilirubinemia, anemia and septicemia were found in twins. Controlling for the confounding of the association between twinning and mortality or morbidity caused by differences in distributions of mode of delivery or gestational age between twins and singletons, was not as efficient as the controlling for birth weight. Thus, adjustment for birth weight removed all the excess risks detected except in hypoglycemia. Our findings suggest that the-lower birth weight of twins, which is so intimately associated with multiple gestations, is probably the single most important factor associated with neonatal problems found in twin births.

Twenty–three cases of symmetrical conjoined twins were registered by the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) in 1,714,952 births, which were observed during the 1967-1986 period in 95 maternity hospitals distributed in eleven Latin-American countries. This results in a birth prevalence rate of about 1/75,000 births. The secular and geographic distribution of this material do not depart from random in spite of one hospital with three cases, and two hospitals with two cases each, within a short time period. These 23 cases include one diprosopus, 3 dicephalus, one ischiopagus, 5 pygopagus, none dipygus, 3 syncephalus, none craniopagus, 9 thoracopagus, one omphalopagus, and none rachipagus. Sex distribution is even, with 12 male and 11 female cases.

The more that twin and other multiple pregnancies are investigated, the more it becomes mandatory that collaborative studies are set up in order to attain the criticai number of cases needed to achieve meaningful and reliable results. The European Multiple Birth Study (EMBS) aims to study two aspects of twin and multiple pregnancy: 1) management of pregnancy and labour, with emphasis on the prevention of preterm delivery; 2) accurate determination of zygosity, a prerequisite for the proper use of the twin method in a variety of fields, eg, congenital malformations, genetics, clinical investigations, etc. The rationale, the methods and the organisation of the study are described and discussed.

Malformations in twins were studied with the use of a Medical Birth Registry covering nearly all births in Sweden, 1973-1981. A total of 15,427 infants marked twins were identified and the malformation diagnoses were analyzed, comparing rates with the overall rates in the same data source. Problems in ascertainment and interpretation are discussed. No excess of neural tube defects was seen, but hydrocephaly was diagnosed more often in twins than in singletons. This can be partly, but not completely, explained by a higher rate of low-weight infants among twins. An excess was noticed in twins in the rates of cardiac defects, spine defects, gut atresias – notably esophageal and anal atresia – and severe kidney malformations. These are components of the so-called VACTERL syndrome – the last component (limb reductions) being more common in twins than in singletons, though statistical significance was not reached. A relation between monozygotic twinning and this syndrome is tentatively suggested.

During a 10-year period (1971-1980) 16 sets of conjoined twins were delivered in the author's hospital. The incidence of those twins was 1 in 4242 deliveries, 1 in 69 multiple births, and 1 in 139 congenitally malformed babies. All diagnoses were made during labour or at operation and all babies were lost. There were no maternal deaths.

During 1967-79 the population-based Medical Birth Registry of Norway registered 7,660 twin pairs (1% of births) born to 7,596 mothers, who gave birth to 6,608 additional infants (twin siblings). The total rate of malformations among twins (278.1/10,000) was not significantly different than among singletons (302.1/10,000), nor among twin siblings (314.8/10,000). By specific type of defect, twins had significantly higher rates than singletons of central nervous system (CNS) defects (Rate Ratio = 1.8) and cardiovascular defects (RR = 1.5). The twins also had a significantly low rate of congenital hip dislocation (RR = 0.4), which may explain the relatively low incidence of malformations in twins. Like-sex (LS) twins had a slightly higher rate of malformations than unlike-sex (US) twins (RR = 1.1), as well as a higher rate of CNS defects (RR = 3.0). The siblings also had a significantly increased rate of CNS defects compared to singletons (RR = 1.9), but not of cardiovascular defects (RR = 0.9). The results indicate that twins have elevated rates of at least some congenital malformations. The observations about CNS defects suggest common factors that can lead to either like-sex twinning, CNS defects, or both. The increased frequency of cardiovascular defects in twins appears to be associated with the biologic conditions of twinning.

Data with regard to the proportion of congenital malformations found at birth are presented from a survey of 657 pairs of twins of known zygosity and placentation delivered in Aberdeen and Northeast Scotland between 1968 and 1979. There was an excess of malformed individuals from monozygotic (MZ) pairs, but this did not reach statistical significance. The possible effect of monochorionic placentation in the causation of malformations in MZ twins in general is discussed. It seems that this type of placentation may be of less causative importance than has been previously suggested.

The European Economic Community (EEC) is promoting a network of locally funded centers in the nine EEC countries, surveying a total of approximately 140,800 births per year for selected congenital malformations and multiple births. The objectives and aims of the study are explained and some of the methods to set guidelines detailed.