A restrictive atrial septal defect is a risk factor for mortality in some forms of left heart disease, and can be predicted from the patterns of flow in the pulmonary veins in fetal life. Our objective was to document the patterns of pulmonary venous flow of blood in different forms of left heart disease in the fetus. The pulmonary venous flow profile was documented in 61 cases. The systolic, diastolic, and reverse waves were measured and compared to normal. Profiles of venous flow suggestive of restriction at the atrial septum were found in 32 of 61 cases using the ratio of systolic to diastolic waves, and 26 cases using the height of the reverse wave.

A restrictive atrial septal defect was found most commonly in fetuses with critical aortic stenosis or the hypoplastic left heart syndrome, and was less frequently seen in the setting of mitral atresia or coarctation. In order to plan appropriate postnatal management, examination of the profiles of pulmonary venous flow is an essential part of the evaluation of any form of left heart disease detected in the fetus.

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.

Objective: To assess the incidence of depression, and the ability to interact socially, in adult patients with chronic cyanosis and congenital cardiac malformations. Design: Prospective study of consecutive patients. Setting: Single institution, tertiary referral centre. Patients: Between 1993 and 2000, we assessed 76 patients with congenital cardiac malformations and persistent cyanosis, having a median age of 36.5 years, with a range from 19 to 64 years, at the time of referral. Female patients accounted for just under half (48.6%) of the sample. Just under two-fifths of the cohort (39.5%) had functionally univentricular cardiac anatomy, while 14.8% had tetralogy of Fallot with pulmonary atresia and aorto-pulmonary collateral arteries, and 17% had the Eisenmenger syndrome. During the period of follow-up, 17 (22.4%) of the patients died. Assessment: We used clinical interviews and non-invasive assessment, employing Zung's questionnaire which provides a scale for the self-rating of depression. On this scale, a score above 50 points is indicative of depression. Results: Of the survivors, 32 (54%) completed the self-rating questionnaires. Of these, 20 responders (63%) considered that they lead full lives, including sexual activities, while 26 (81%) had never harboured suicidal thoughts. Depression was diagnosed in 11 responders (34%), with a mean score of 66.9, standard deviation of 8.7, and a range from 53 to 89. The remaining 21 patients (66%) were without signs of depression, scoring a mean of 41.5, with standard deviation of 5.5, and a range from 35 to 46. Depression was associated with older age (40.5 years versus 33.5 years, p =0.01), worse functional state in the classification of the New York Heart Association (2.95 versus 2.48, p =0.03), and unemployment (p < 0.0001), but independent from the severity of cyanosis, the level of the haematocrit, the saturation of oxygen, or previous surgical treatment. Conclusions: To our knowledge, this is the first evidence suggesting a relatively high incidence of depression in adults with congenital cardiac malformations and persistent cyanosis. Larger, multi-centric studies will be needed to confirm or refute these findings.

Background: This is a review of the experience over 26 year in a single institution with surgical repair of aortopulmonary window. Methods: Between July 1973 and March 1999, 38 patients underwent surgery for aortopulmonary window at a median age of 5 weeks, and with a median weight of 3.9 kg. Median follow-up was 6.6 years, with a range from 0.8 to 26 years. Additional defects were present in 25 (65%) patients, including interruption of the aortic arch in 7, tetralogy of Fallot in 7, ventricular septal defect in 5, functionally univentricular anatomy in 3, aortic coarctation in 2, and anomalous origin of a coronary artery in 1. We approached via an aortotomy in 45%, an incision through the defect in 31%, and using a pulmonary arteriotomy in 24% of patients. Closure was achieved using a single patch in 30 patients (79%). Results: There were 3 (7.9%) in-hospital deaths. Actuarial patient survival was 88% at 10 years. Three patients required reinterventions for stenoses of the great arteries. Freedom from any reintervention was 70% at 10 years. By multivariate analysis, the approach through a pulmonary arteriotomy was shown to result in a higher need for reintervention (p = 0.01). Conclusions: Repair of aortopulmonary window can be done with excellent results. A pulmonary arteriotomy should be avoided.

We sought to analyse the long-term follow-up after primary repair of tetralogy of Fallot in infancy in the first year of life, paying particular attention to growth of the pulmonary arteries and the need for reintervention. We performed a combined retro- and prospective echocardiographic study, including measurements of the pulmonary valve and right and left pulmonary arteries, indexed to the square root of body surface area, in 62 patients prior to primary repair, 18 to 24 months after this event, and at the most recent follow-up, with a mean of 80.4 ± 24 months. Of these, 38 patients, with an age at operation of 5.0 ± 3.4 months, had presented preoperatively with hypoxic spells or increasing cyanosis. The remaining 24 patients had been asymptomatic, with adequate flow of blood to the lungs. Their age at elective operation was 7.4 ± 3.0 months. A transannular patch was needed in 37 patients (63%). There were 3 early postoperative deaths (4.8%).

Cross-sectional echocardiography revealed a significantly smaller diameter for the pulmonary valve in patients who had been symptomatic preoperatively compared to the asymptomatic patients (1.09 versus 1.3 cm/BSA0.5; p = 0.019). The diameters of the right and left pulmonary arteries did not differ significantly between the groups. Examination of echocardiographic data obtained 18 to 24 months postoperatively in 43 patients revealed a significant increase in the diameter of the pulmonary arteries; 0.83 ± 0.17 cm/BSA0.5 versus 1.1 ± 0.26 cm/BSA0.5 for the diameter of the right pulmonary artery, 0.85 ± 0.2 cm/BSA0.5 versus 1.0 ± 0.25 cm/BSA0.5 for the left pulmonary artery. On comparison between individuals, 18.6% and 25.6% of the patients, respectively, did not show any change in the diameters of their right and left pulmonary arteries, whereas the increase in diameter reached or exceeded the measurements in normal controls in 55.8% and 46.5% of the patients, respectively. On recent follow-up, with a range from 56 to 147 months, no further increase in the indexed diameters of the pulmonaries could be documented in 21 of 33 patients. Of these, 9.1% and 18.2%, respectively, presented with small right and left pulmonary arteries compared with measurements obtained in normal controls. Moderate pulmonary incompetence was found on colour flow mapping in one-third. Of 56 longterm survivors, 8 (14%) had required reinterventions, which were surgical in 6 and achieved by transcatheter techniques in the other 2 patients. Thus, primary correction of tetralogy of Fallot in infancy, with restoration of normal pressures and flows, resulted in sustained increase in the diameters of the right and left pulmonary arteries. It allowed for early normal development of the proximal pulmonary arterial system in most patients regardless of their age and symptomatic status at operation. Patients with persistent subnormal diameter of the pulmonary arteries did not present with significantly elevated right ventricular pressure. Early one-stage repair of tetralogy of Fallot in infancy was associated with a low rate of reinterventions.

Background: Performance of the functionally single right ventricle may deteriorate over time. Quantitative assessment of this chamber, however, is complicated by its asymmetric geometry. Automatic detection of borders, and the Doppler-derived index of myocardial performance, are echocardiographic techniques that allow for quantitative assessment regardless of ventricular shape. We sought to evaluate the mechanics of contraction and relaxation in the functionally single right ventricle using these parameters. Methods: We evaluated systemic ventricular function in 35 asymptomatic patients with functionally single right ventricle, having a mean age of 7.8 ± 3.1 years, who had undergone the Fontan procedure. We compared them with 32 age-matched normal controls using both automatic detection of borders and Doppler indexes. Results: When compared with the controls, the group with a functionally single right ventricle demonstrated diminished systolic function as evidenced by a lower fractional change in area (42.7 ± 10.1% vs. 54.6 ± 10.5%, p = 0.001), and diminished diastolic function, as demonstrated by a greater reliance on atrial contraction to achieve ventricular filling (32.0 ± 4.4% vs. 22.2 ± 4.1%, p = 0.001). The mean index of myocardial performance in those with functionally single right ventricles was also greater than in controls (0.41 ± 0.12 vs. 0.30 ± 0.05, p = 0.001), and the indexed ejection time was shorter (0.35 ± 0.05 vs. 0.39 ± 0.05, p = 0.01), suggesting less efficient ventricular mechanics. Conclusions: These data demonstrate that the systolic and diastolic properties of the functionally single right ventricle differ significantly from those of the normal systemic left ventricle. Use of the echocardiographic techniques provide insight into ventricular mechanics in patients with functionally single ventricles, and may be valuable tools for serial quantitative follow-up.

Most patients with the Mustard procedure are now adults. To date, however, there have been few reports on resting and exercise hemodynamics in a large population of adults with this circulation. The aim of this study is to describe such parameters in one of the largest and oldest populations of adults with the Mustard procedure. The database of the University of Toronto Congenital Cardiac Centre for Adults was examined to identify 84 adults with the Mustard procedure who have undergone cardiopulmonary exercise tests. Magnetic resonance imaging and echocardiography studies were obtained in order to assess right ventricular size, function and baseline hemodynamics. Patients achieved lower maximum uptake of oxygen, maximal heart rate, forced vital capacity, forced expiratory volume in 1 second, and oxygen saturations at maximal exercise compared to a healthy population. Magnetic resonance imaging showed significantly different right ventricular ejection fractions between patients and controls. There were no effects of operative variables or preoperative hemodynamics on current exercise capacity. Patients after the Mustard procedure have subnormal exercise capacities. Factors such as chronotropic incompetence, peripheral deconditioning, and impaired lung function may be responsible for these results.

Objective: To investigate our surgical results of intraventricular rerouting in patients having double outlet right ventricle with doubly-committed ventricular septal defect. Methods: We undertook repair in 8 patients with this particular feature. Of these, 2 patients had pulmonary stenosis, and another had interruption of the aortic arch. The subarterial defect was unequivocally related to both the aortic and the pulmonary orifices in all, albeit slightly deviated towards the aortic orifice in one, and towards the pulmonary orifice in another. Intraventricular rerouting was carried out via incisions to the right atrium and the pulmonary trunk. To ensure reconstruction of an unobstructed pulmonary pathway, a limited right ventriculotomy was made in 5. Results: All patients survived the procedure, and are currently doing well, with follow-up of 25 to 194 months, with a mean of 117 ± 68 months. Catheterization carried out 16 ± 6 months after repair demonstrated excellent ventricular parameters. Mean pulmonary arterial pressure was 16 ± 7 mmHg, being higher than 20 mmHg in 2 patients. No significant obstruction was found between the right ventricle and the pulmonary arteries. A pressure gradient across the left ventricular outflow tract became significant in one patient in whom a small outlet septum was present, and a heart-shaped baffle had been used for intraventricular rerouting. Reoperation was eventually needed in this patient for treatment of the obstruction, which proved to be progressive. Conclusion: Precise recognition of the morphologic features is of paramount importance when choosing the optimal options for biventricular repair in patients with double outlet right ventricle and doubly-committed interventricular communication.

Introduction: Hypertension and hyperperfusion of the pulmonary vascular bed in the setting of congenital cardiac malformations may lead to progressive pulmonary vascular disease. To improve the understanding of the basic mechanisms of this disease, there is a need for clinically relevant animal models which reflect the disease process. Material and Results: We randomly allocated 45 newborn pigs, at the age of 48 hrs, to groups in which there was either construction of a 3 mm central aorto-pulmonary shunt, undertaken in 9, or ligation of the left pulmonary artery, achieved in 13. Controls included sham operations in 13, or no operations in 10 pigs. Follow-up was continued for three months. The interventions were compatible with survival in most pigs. The shunts resulted in an acute 85% increase in systolic pulmonary arterial pressure, and a more than twofold increase in pulmonary blood flow. By three months of age, nearly all shunts had closed spontaneously, and haemodynamics were normal. Ligation of the left pulmonary artery resulted in a normal total pulmonary blood flow, despite only the right lung being perfused, and a 33% increase in systolic pulmonary arterial pressure. These haemodynamic changes were maintained throughout the period of study. In both groups, histomorphometry revealed markedly increased muscularity of the intra-acinar pulmonary arteries. Circulating levels of endothelin were normal in the shunted animals, and elevated in those with ligation of the left pulmonary artery. Conclusion: In neonatal porcine models of pulmonary vascular disease, created by construction of 3 mm central aorto-pulmonary shunts and ligation of one pulmonary artery, we observed histopathological changes of the pulmonary vasculature similar to early hypertensive pulmonary vascular disease in humans. Elevated circulating levels of endothelin were associated with abnormal haemodynamics rather than abnormal pathology. These findings could be valuable for future studies on the pathogenesis of hypertensive pulmonary vascular disease associated with congenital cardiac malformations.

The purpose of our study was to determine the ways in which adolescents with congenital cardiac disease believed that the condition had affected their life, and how these views were related to their perceived health. Interviews were conducted with a series of 37 adolescents, 17 girls and 20 boys, aged from 11 to 18, as they attended the clinics of 4 paediatric cardiologists in a teaching hospital in the United Kingdom. Transcripts of the interviews were analysed for recurring themes. A questionnaire was formed consisting of a set of questions for each theme, and additional items eliciting “perceived health”, and administered to a second series of 74 adolescents, 40 boys and 34 girls, who were again aged from 11 to 18 years. Slightly less than half (46%) perceived their health as either “good” or “very good”, and one-third (33%) rated it as “average”. The majority (66%) felt themselves to be “the same” as, or only very slightly “different” from, their peers. The assessment of the seriousness of their condition by the adolescents, the degree to which they saw themselves as different from others, and their perceived health, were not related to the “complexity of the underlying medical condition” as rated by their physician. It was the psychosocial themes, such as exclusion from activities or the effect of the condition on relationships, that were most strongly related to the perception of their health by the adolescents. Improved education of parents, teachers and peers, and attendance at classes for cardiac rehabilitation, might help to ameliorate some of these problems.

Isolated noncompaction of the myocardium, also known as “spongy myocardium”, is a rare disease in children and adults. It is suggested that, during early development of the heart, the primary spongy structure persists due to an arrest of compaction. No other cardiac malformations are found, but there are familial occurences, relations to genetic disorders or syndromes such as Melnick-needles-syndrome or Xq28-linked cardiomyopathy, and reports of conduction disorders.

We have now diagnosed isolated noncompaction in seven children aged between five weeks and 5.5 years. Three are doing well with anticongestive therapy, while transplantation of the heart was performed in one. Three of the children have died, but in only one case due to cardiac failure.

Our experience emphasises the need rapidly to establish the diagnosis, to search for associated extracardiac abnormalities, and to consider transplantation at an early stage.

Congenital absence of aortic valvar leaflets is a rare and fatal variant of the hypoplastic left heart syndrome. We describe a recent patient seen at our institution with this lesion, illustrating a combined echocardiographic and angiographic approach that delineates both anatomy and physiology. The early mortality experienced in previous reports, as well as unsuccessful surgical palliation in our case, should promote further discussion regarding the optimal treatment.

Isolated noncompaction of ventricular myocardium is a rare cardiomyopathy, presumed to originate from a developmental abnormality in the evolution of the heart, and resulting in sponge-like myocardium. Isolated ventricular noncompaction can present with a variety of symptoms, but usually includes heart failure. The diagnosis is often made by echocardiography, which reveals a very distinct image of the myocardium, with many deep, confluent recesses and dense trabeculations. We encountered such findings in a moribund neonate presenting with cardiogenic shock with extremely low shortening fractions. After treatment with intravenous and oral cardiotonics, coupled with afterload reduction, we were able to optimize the balance between ventricular filling and myocardial contractility, resulting in markedly improved cardiac function as judged clinically, and as measured by echocardiography. As far as we know, this is one of the youngest patients yet reported to have a good recovery.

We describe a 31-year-old man with Down's syndrome who presented with severe chronic hypothyroidism and a massive pericardial effusion. Following partial aspiration of this effusion, he rapidly deteriorated and died. Findings at autopsy revealed him to have an atrioventricular septal defect with shunting at the atrial level. We postulate that, by releasing extrinsic pressure on his right heart by the aspiration, there was sudden shunting of blood from left-to-right, resulting in hypotension, shock, and subsequent death. We highlight the difficulties in management of such a case, and suggest alternative strategies.

In a neonate born prior to term with a weight of 1825 grams, and diagnosed prenatally as having atrioventricular septal defect and Down's syndrome, we found the aortic arch to be interrupted between the left carotid artery and the left subclavian artery, with the arterial duct being the only route of distal perfusion. Three days later, however, echocardiographic interrogation revealed marked collateral connections between the aortic arch and the descending aorta, the picture then mimicking coarctation rather than interruption of the aortic arch. The rapid development of the collateral arteries was confirmed by magnetic resonance imaging and during cardiac surgery.

We describe a 970-gram infant born prematurely at 28 weeks gestation. On the third day of life, she presented in heart failure with Shone's syndrome and severe coarctation of the aorta. Despite initiation of intravenous prostaglandins, she developed progressive severe biventricular dysfunction and acidosis. Balloon angioplasty of the coarctation was successfully performed on the fifth day of life, with a dramatic improvement in ventricular function. At seven weeks of age, after improvement of ventricular function, she underwent surgical resection of the coarctation and arch advancement. At six months of age she is thriving and developing normally.

Isolated noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy resulting from an arrest in normal endomyocardial embryogenesis. The diagnosis can be made echocardiographically, and the entity may be associated with problems of cardiac rhythm. We describe two illustrative cases, with Wolf-Parkinson-White syndrome in one, and left bundle branch block in the other. We emphasize that children with problems of rhythm and findings suggestive for left ventricular cardiomyopathy, either hypertrophic or dilated; should be investigated to exclude isolated noncompaction of the ventricular myocardium.