Background: Health-related quality of life in adults with congenital cardiac disease appears to be impaired, but the determinants of this alteration remain largely unknown. The aim of our study was to examine the impact of arrhythmias on quality of life in patients late after the atrial redirection operation for transposition, or after complete correction of tetralogy of Fallot. Patients and methods: We enrolled 32 patients with transposition, and 35 patients with tetralogy of Fallot, in a prospective study. Quality of life was assessed using RAND-36 questionnaires. Quality of life data were compared with those of an age-matched control population. Patients underwent 24-hour and 7-day electrocardiographic recordings, echocardiography, and exercise testing. Results: Patients without arrhythmias had quality of life comparable to that of the general population. All 8 domains in the questionnaire showed scores 22 to 51 percent lower in 12 patients with atrial tachyarrhythmias, and/or sinus nodal dysfunction, requiring insertion of a pacemaker in comparison with 55 patients without arrhythmias. In patients with transposition, low scores were not only associated with arrhythmias, but also correlated with impaired exercise capacity. Conclusions: Atrial tachyarrhythmias, and sinus nodal dysfunction, requiring insertion of a pacemaker, were associated with impaired quality of life in adults late after atrial surgical correction of transposition or correction of tetralogy of Fallot.

The recent developments in imaging techniques have created new opportunities to give an accurate description of the three-dimensional morphology of vessels. Such three-dimensional reconstruction of anatomical structures from medical images has achieved importance in several applications, such as the reconstruction of human bones, spine portions, and vascular districts.

We describe a 9-year-old girl who was noted to have eosinophilic myocarditis in her native heart after it was explanted during cardiac transplantation. On the basis of absence of evidence for primary or secondary eosinophilia, we suggest that the prolonged use of dobutamine prior to transplantation might have induced the eosinophilic myocarditis.

Objectives: To describe the echocardiographic features, underlying causes, and outcome of fetuses with dilated cardiomyopathy. Design: A retrospective observational study between 1983 and 2003 at a tertiary centre for fetal cardiology. Patients: Affected fetuses were identified using a computerised database. We included fetuses with dilation and reduced systolic function of either the right ventricle, left ventricle, or both. We excluded fetuses with abnormal cardiac connections, arrhythmias, or stenosis of the aortic or pulmonary valves. In all, we identified 50 fetuses, born to 46 mothers. Of the fetuses, 24 had biventricular cardiomyopathy, 17 had isolated right ventricular cardiomyopathy, and 9 had isolated left ventricular cardiomyopathy. Two-thirds of the fetuses (32) were hydropic at some point during gestation. Main outcomes: A cause of cardiomyopathy was identified in 37 cases (74 per cent). This was genetic or metabolic in 11 fetuses; infective in 11; fetal anaemia, without proven parvovirus infection, in 5; of cardiac origin in 5; and an association with renal disease in 5. In 10 cases (20 per cent), the pregnancy was terminated. Based on an intention to treat, the survival to delivery was 25 of 40 (62.5 per cent, 95 per cent confidence intervals from 46 to 77 per cent), at 28 days was 17 of 40 (42.5 per cent, 95 per cent confidence intervals from 27 to 59 per cent), and at 1 year was 15 of 40 (37.5 per cent, 95 per cent confidence intervals from 23 to 54 per cent). The overall survival of non-hydropic fetuses was 9 of 18 (50 per cent), compared to 6 of 32 (18 per cent) hydropic fetuses. Conclusions: Genetic, metabolic, infective, and cardiac diseases may present with dilated cardiomyopathy during fetal life. There is a high rate of spontaneous intra-uterine and early neonatal death. The prognosis is particularly poor for hydropic fetuses.

Congenital anomalies of the tricuspid valve, and/or its supporting apparatus, leading to severe tricuspid regurgitation are rare. Although well tolerated in early childhood, long-standing and progressive volume loading of the right heart leads to symptoms of decreased exercise tolerance, and may predispose to arrhythmias in the long term. We report three cases of severe tricuspid regurgitation related to anomalies of the cords supporting the antero-superior leaflet of the tricuspid valve. Shortened cords leading to tethering of the leaflet were seen in two cases, and hypoplasia of the leaflet in the other. In all cases, the regurgitant jet was directed posteriorly towards the coronary sinus and atrial septum. Surgical repair was possible in one case, while it proved necessary to replace the valve in a second. The third child is asymptomatic and under regular review.

Transposition, defined as concordant atrioventricular and discordant ventriculo-arterial connections, is a common neonatal congenital cardiac malformation.1 Repair of this lesion by means of the arterial switch in the neonatal period has progressed such that preoperative factors are playing a larger role in the postoperative outcomes.

Background: Hypertrophic cardiomyopathy is a common cause of sudden death in children. In this study, we aimed to identify clinical measures for stratification of this risk in childhood. Patients and methods: By means of a retrospective cohort study from six regional centres of paediatric cardiology, we identified 128 patients with hypertrophic cardiomyopathy presenting below 19 years of age, with a mean follow-up of 10.8 years. Of the patients, 31 had died, 16 suddenly, with a median age at sudden death of 13.3 years. Results: Cox regression shows that electrocardiographic voltages, analysed as the sum of the R and S waves in all six limb leads (p equal to 0.001), and septal thickness expressed as proportion of the 95th centile for age (p equal to 0.036), were independent predictors of sudden death. When the sum of the R and S waves is over 10 millivolts, the odds ratio for sudden death was 8.4, with 95% confidence intervals from 2.2 to 33.7 (p equal to 0.0012), and finding a septal thickness over 190% of 95th centile for age gives an odds ratio of 6.2, with confidence intervals from 1.5 to 25.1 (p equal to 0.011). Noonan's syndrome, with a p value equal to 0.043, and the ratio of the left ventricular wall to its cavity in diastole, with a p value equal to 0.005, were independent predictors of death in cardiac failure, with a ratio of the mural thickness to the dimension of the cavity over 0.30 giving an odds ratio of 36.0, with confidence limits from 4.2 to 311, and a p value equal to 0.00009. At follow-up, patients deemed to be at a high risk of dying suddenly were identified by the combination of the sum of the R and S waves greater than 10 millivolts and septal thickness over 190%, with a sensitivity of 91%, specificity of 78%, positive predictive value of 50%, and a negative predictive value of 97%. Conclusions: Children at high risk of dying suddenly with hypertrophic cardiomyopathy, with a subsequent annual mortality of 6.6%, can be distinguished at the time of diagnosis from those patients having a low risk of sudden death, the latter with an annual mortality of 0.27%.

To date, almost all patients reported with hypoplasia of the left heart have had usual atrial arrangement, with a small proportion known to have left or right isomerism. As far as I am aware, however, only one patient has previously been described with mirror-imaged arrangement of the heart and organs. In this report, I describe the second case.

Although persisting endothelial dysfunction has been established in the vasculature of patients following surgical repair of coarctation, it is unknown whether there are alterations in the cytoskeleton of the aorta in such patients. We compared staining of N-terminus dystrophin in the smooth muscle of the aortic wall of a patient with coarctation to that in a patient without coarctation, the latter undergoing surgical treatment of a double aortic arch. There was a marked difference in the pattern of expression of dystrophin between the two, with the coarcted specimen demonstrating marked fragmentation but normal intensity of staining. As far as we are aware, ours is the first report to demonstrate the presence of dystrophin in the smooth muscle of the aorta. Alterations in the cytoskeletal structure may account for underlying aberrations in endothelial function in such patients, and is a topic that warrants further investigation.

Since the pioneering work of Fontan and Baudet, who suggested that a dysfunctional right ventricle could be bypassed by connecting the pulmonary arteries directly to the right atrium in the so-called atriopulmonary anastomosis, much experience has been gained in the field of the functionally univentricular circulation. In view of the continuing need to optimize the fluid dynamics of the connection, research on this topic remains very active. In particular, it is relevant to consider the power dissipated during flow across a connection of this type, due to the low level of the pressure head available for perfusion. The flow to the lungs in this setting is driven only by the low pressure in the caval veins, thus making it essential to minimize the losses of energy in the connection between the terminal part of the venous system and the pulmonary arteries.

We describe a patient in whom we found dual orifices in a straddling and overriding tricuspid valve, with two normally sized ventricles and a cleft in the mitral valve. The patient underwent successful surgical repair. We discuss the concept of “double-orifice right atrium”, as well as the need to differentiate the isolated cleft of the morphologically mitral valve from the zone of apposition between the left ventricular components of the bridging leaflets seen in the setting of atrioventricular septal defect with common atrioventricular junction. We emphasise the unusual association of these abnormalities of the right and left atrioventricular valves in patients with separate atrioventricular junctions.

A female neonate, born at term, presented with complex cardiac anatomy dominated by right isomerism and infra-diaphragmatic totally anomalous pulmonary venous connection. Surgical repair was performed using circulatory arrest under deep hypothermia. In the postoperative period, the patient could not be weaned off mechanical ventilation, and underwent cardiac catheterization. This revealed major aortopulmonary collateral arteries, which were occluded with coils. We review the literature with specific focus on the occurrence of this unusual combination and its implication in the management during the postoperative period.

Aortic coarctation is occasionally detected only in adulthood, usually in the context of systemic hypertension. It is frequently associated with other malformations, but the presence of severe disease of the aortic or mitral valves is rare. Such associated lesions, nonetheless, have important implications regarding the type and timing of therapeutic interventions. We describe an adult patient with severe aortic coarctation, aortic valvar regurgitation, and impaired left ventricular systolic function. We treated the aortic coarctation first by means of percutaneous dilation and implantation of a stent. Four days later, we proceeded to treat the aortic regurgitation surgically, using the Bentall procedure. Our experience documents a safe and efficient therapeutic approach to this association of lesions.

The arterial switch operation1 has now become the surgical treatment of choice for those patients born with transposition, specifically the combination of concordant atrioventricular and discordant ventriculo-arterial connections. For those working in experienced centres, the operation is now a stable and well-controlled procedure. The gathering of the necessary experience to achieve such control proceeds through two different stages. The first is the familiarity gained during the surgical transfer of the coronary arteries in those patients with the usual anatomic pattern. The second step is gain the expertise so as to cope with the more complex arrangements, in which the major coronary arteries have not only an unusual origin from the aortic sinuses, but also an unexpected epicardial course relative to the arterial pedicle. There can still be a steep learning curve as the surgeon corrects those patients with the more complex arrangements. In this review, we discuss a simplified but uniform technique for surgical transfer that permits relocation of the coronary arteries irrespective of their sinusal origin or their epicardial course. The technique has been used for more than 15 years in Hopital Marie Lannelongue in Paris,2–5 and proved its worth during the initial experience of the Senior Author (FLG) in two new centres, namely the Universitat Krankenhaus Eppendorf, Hamburg, and the Children's Hospital, Denver.

Right ventricular dysfunction is known to occur after the first stage of the Norwood sequence for treatment of patients with hypoplasia of the left heart. In a subset of patients, such ventricular dysfunction occurs without a specific anatomical cause. We describe two such cases with severe right ventricular dysfunction. In both cases, magnetic resonance imaging was used accurately to measure ventricular function and assess the arterial trunks. In both cases, cardiac transplantation was considered, but right ventricular function improved without invasive management. Transient right ventricular dysfunction in these cases may be due to the reduced ability of the right ventricle to adapt to the systemic vasculature. The improvement in ventricular function in these two cases may be due to delayed adaptation.

We describe an unusual right atrial aneurysm, occurring with progressive obstruction of the right ventricular outflow tract and increasing cyanosis, in a nine-month-old boy with chromosome 8(p23.1) deletion. Surgical resection of the diverticulum, and relief of the right ventricular obstruction, was successful, although impairment of right ventricular compliance persists after 19 months follow-up.