Ebstein's malformation is a congenital anomaly of the tricuspid valve and right ventricle that is characterized by several features, each of which can exhibit a spectrum of malformation. The first is adherence of the leaflets of the tricuspid valve to the underlying myocardium, this representing failure of delamination during development. This feature involves the septal and inferior leaflets, but rarely the anterior leaflet (Fig. 1). The second feature is anterior and apical rotational displacement of the functional annulus (Fig. 2). The third abnormality is dilation of the “atrialized” portion of the right ventricle, with variable degrees of hypertrophy and thinning of the wall. The fourth finding is redundancy, fenestrations, and tethering of the anterior leaflet. A fifth abnormality is dilation of the right atrioventricular junction, this being the true tricuspid valvar annulus. The final feature is variable ventricular myocardial dysfunction. Each heart with Ebstein's malformation is different, and there is an infinite variability that can occur with the above mentioned characteristics. These anatomical and functional abnormalities cause important tricuspid regurgitation, which results in right atrial and right ventricular dilation, and atrial and ventricular arrhythmias.

Objective: To determine if in-hospital mortality after cardiac surgery can be predicted, in children, using a new clinical and surgical index. Study design: Observational, retrospective, cross-sectional. Methods: We reviewed 818 charts from children undergoing surgery between January, 2000, and December, 2004. The index was calculated by summing the scores from five variables, specifically age, nutritional state, the presence of associated clinical risk factors, surgical complexity, and use and time of cardiopulmonary bypass. Each variable was subdivided into categories of low, medium or high risk, with scores attributed as zero, one or two, respectively. Risks for death were calculated using the odds ratio. Results: Our overall mortality was 14.7%, with our proposed index correlating strongly with mortality (p less than 0.0001). No patients died with scores of zero, but mortality increased from around 10% with a score of three, to close to 30% with scores of five and six, and to over 50% with a score of eight. No patients reached scores of 10, and more than three-fifths of all patients had scores between zero and three. We observed higher mortalities independently for each variable in association with the highest risk scores. Conclusions: We found that surgery undertaken in the neonatal period, weight below the 5th percentile, the presence of associated clinical risk factors, operations of higher complexity, and more than 90 minutes of cardiopulmonary bypass were all significantly associated with mortality. Our suggested new index showed a linear correlation with mortality, and in our current experience, has proved a valuable tool for predicting adverse outcomes.

The nomenclature and classification of patients with a functionally univentricular heart has been debated for decades. We review here the approach taken for dealing with this group of patients by the International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Cardiac Disease. We discuss the approach of this Nomenclature Working Group in the context of other historical and contemporary ideas about this topic.

Aims: We studied a population of patients with surgically corrected congenital cardiac disease to determine whether limitations in activity, impaired cardiac performance, and perception of body image have effects on psychological symptoms. Methods: We undertook medical examinations, and carried out standardized interviews, in 361 patients aged between 14 and 45 years with surgically corrected congenital cardiac disease. From this data, findings from 343 patients were suitable for analysis. Subjectively reported limitations in activity were classified according to the system proposed by the New York Heart Association, while cardiopulmonary capacity was used as the indicator of cardiac performance. The Brief Symptom Inventory was used for assessing psychological symptoms, such as somatization, obsession-compulsion, interpersonal sensitivity, depression, anxiety, hostility, phobic anxiety, paranoid ideation, and psychoticism. The Body Image Questionnaire was used to depict attitudes towards body image, which is assessed on the two subscales of rejection of the body and vitality. Multivariate regression analyses were conducted separately for females and males, taking into account age and socio-economic position. Results: Impairments of everyday activities had only a few substantial associations with psychological symptoms. No significant effects of cardiac functional capacity as a standardized physiological measure emerged. Psychological symptoms were strongly influenced by perceptions of body image, particularly if they rejected it, this holding particularly for males. There were no gender differences in terms of psychological symptoms. Conclusions: Limitations of activity, and impaired cardiac performance, have only minor effects on psychological symptoms in patients with surgically corrected congenital cardiac disease. The perception of body image was the strongest predictor, especially if patients rejected their body as a result of disfigurement or perceived deficiency.

Objective: To establish the feasibility and efficacy of closing large patent arterial duct in infants, using the modified and angled variants of the Amplatzer duct occluder. Background: Closure of large patent arterial ducts by inserting devices in sick and underweight infants, particularly those weighing around 5 kilograms, remains a challenge. Bigger devices require larger delivery sheaths and may cause obstruction either to the aorta or left pulmonary artery. Negotiating a large device is difficult or impossible, as the sheath gets kinked. Because of these problems, such underweight infants with large ducts who are failing to thrive, and in left ventricular failure with associated lesions, are typically referred for surgery, often leading to higher morbidity and mortality. Methods: We attempted to close such large patent arterial ducts using the new Amplatzer occluder, modified with single layer of polyester, and the angled occluder, with no polyester material, inserted through a specially braided kink-resistant sheath. Results: Closure was achieved in 10 infants, with mean age of 8.2 months, mean weight of 5.5 kilograms, the lowest weighing 3.9 kilograms. The mean size of the patent ducts was 6.3 millimetres, with the largest measuring 8.6 millimetres. We implanted 6 modified and 4 angled occluders. In one patient, suffering from hydronephrosis, a 14/12 angled device embolized and was retrieved, but the patient died. In the remaining patients, all ducts were closed completely, with no obstruction to either the aorta or left pulmonary artery. On follow up, all showed excellent clinical improvement. Conclusion: Complete closure of very large patent arterial ducts is now possible, even in very sick and underweight infants, using the large but low profile custom-made angled or modified versions of the Amplatzer occluder.

Basic scientists, as well as cardiologists, are caught by the idea of curing ischaemic heart disease with cardiac progenitor or stem cells. This short review provides an overview of our current knowledge on the potential use of stem cells for cardiac disease. Since, in infants and children, aetiologies and pathomechanisms of critical cardiac disease are fundamentally different from those in adults, we will also address the question as to whether such young patients could be a therapeutic target at all, and in which respect it may be necessary to view treatment with stem cells from a different stance in the developing organism.

The outlook for patients with hypoplastic left heart syndrome has dramatically improved over the past two decades. Universally fatal only 25 years ago, since that time outcomes for staged palliation have shown consistent improvement. Recent reports show that eight to nine patients from every ten can now leave the hospital after the Norwood procedure.1 Attrition following the Norwood procedure, nonetheless, remains significant, with from five to fifteen percent of patients dying between the first and second stages of the Norwood sequence.1–4 Only three-quarters of the patients undergoing surgery for hypoplastic left heart syndrome survive after five years, even at the centres reporting the best outcomes for the Norwood procedure.1,5 In addition to the deaths, some patients are unable to progress through the three stages of reconstruction, and may require cardiac transplantation, or have no options for further therapy. There are many causes for these mortalities and morbidities following the Norwood procedure, including elevated pulmonary vascular resistance, cardiac arrhythmias, coronary arterial insufficiency, right ventricular failure, right ventricular volume overload due to shunt-dependent physiology, and tricuspid valvar regurgitation. Many of these factors are interrelated, and may form feedback loops, which serve to propagate their adverse effects on patients with hypoplastic left heart syndrome.

Background: Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection seems to occur with increased frequency. Aim: To describe in more detail aortic dissection as encountered in Turner's syndrome, giving attention to clinical, histological and epidemiological aspects. Materials and methods: Based on a retrospective study, we describe the clinical, karyotypic, and epidemiological aspects of aortic dissection as encountered in cases of Turner's syndrome seen in Denmark and Sweden. Results: The median age at onset of aortic dissection in 18 women was 35 years, ranging from 18 to 61 years. Fourteen of 18 women had a 45,X karyotype, while 2 patients had 45,X/45,XY, and 2 had the 45,X/46,X+r(X) complement, respectively. Echocardiography was performed in 10 of 18 patients before their acute illness, and showed signs of congenital cardiac disease, with either bifoliate aortic valves, dilation of the aortic root, or previous aortic coarctation evident in most patients. In 5 patients evidence of a bifoliate aortic valve was conclusive. Hypertension was present in 5 of 18 patients, while 10 of the patients died from aortic dissection, of so-called type A in 6, type B in 3, while in the final case the origin of dissection could not be determined. Biochemical analysis showed altered ratio between type I and type III collagen. Histology showed cystic medial necrosis in 3 of 7 cases. We estimated an incidence of dissection of 36 per 100,000 Turner's syndrome years, compared with an incidence of 6 per 100,000 in the general population, and a cumulated rate of incidence of 14, 73, 78, and 50 per 100,000 among 0–19, 20–29, 30–39, and 40+ year olds, respectively. Conclusion: Aortic dissection is extremely common in the setting of Turner's syndrome, and occurs early in life. Patients with Turner's syndrome should be offered a protocol for clinical follow-up similar to that provided for patients with Marfan syndrome, and each clinic should embrace a programme for follow-up.

In the past, hearts with double inlet ventricle have been amongst the most contentious of congenital cardiac malformations. This is because, although most examples found with this particular atrioventricular connection have one big and one small chamber within the ventricular mass, for many years the variant most frequently encountered, with a dominant left ventricle, was usually described as exhibiting a single ventricle.1 With the recognition that, in this particular variant, the small chamber is an incomplete right ventricle, and is never capable of supporting independently the pulmonary circulation, the anatomic situation has now been clarified, as explained in the previous review,2 by recognising that the arrangement produces a functionally single ventricle, and that almost always patients with this lesion, if treated surgically, will be converted to the Fontan circulation. Even though, nonetheless, most patients with all variants of double inlet ventricle will likely end up with the Fontan circulation, it remains necessary to identify the functionally significant variants, namely those to be found in ventricular morphology, atrioventricular valvar morphology, ventriculo-arterial connections, and associated malformations.3

Background: Our study focusses on echocardiographic assessment of the right ventricular diastolic function and adaptive right ventricular response to volume overload resulting from pulmonary and tricuspid regurgitation in surgically treated patients with tetralogy of Fallot. Method and results: We included 60 patients subsequent to surgical correction of tetralogy of Fallot, dividing them into two groups – a group of 18 patients with restrictive physiology, having antegrade flow to the pulmonary arteries greater than 30 centimetres per second in late diastole in five consecutive beats, and a group of 42 patients with non-restrictive physiology. Based on the cardiothoracic ratio, being more or equal to, or less than 0.55, we further divided those with restrictive physiology into a group of 14 patients deemed to have primary restriction, and the other 4 patients considered to have secondary or acquired restriction. Those with non-restrictive physiology were divided into groups of 16 patients with a small heart, and 26 patients with a large heart. A fraction of the venous retrograde diastolic flow in the hepatic vein greater or equal to 30 centimetres is important for distinguishing between the subgroup with primary restriction and the other subgroups. In the four patients with secondary restriction, anterograde diastolic flow in the pulmonary artery greater than 30 centimetres per second was recorded after the average period of follow-up of 2.4 years. The mean value of the pulmonary regurgitant jet pressure half-time was higher in the subgroup with the secondary restriction in comparison to the nonrestrictive subgroup with large hearts at 152 milliseconds with standard deviation of 36 milliseconds versus 85 milliseconds with standard deviation of 11 milliseconds, p less than 0.05. This was significantly lower in comparison to those with primary restriction, where the value was 238 milliseconds, with standard deviation of 42 milliseconds, p less than 0.02. Conclusion: Echocardiographic analysis offers great possibilities for assessment of right ventricular diastolic function, identifying in particular those with restrictive physiology, its interrelation with pulmonary and tricuspid regurgitation, as well as timing and selection of patients for re-intervention.

Congenital cardiac malformations which include isomerism of the atrial appendages are amongst the most challenging of problems for diagnosis and also for medical and surgical management. The nomenclature for pathological description is controversial, but difficulties can be overcome by the use of a segmental approach. Such an approach sets out the morphology and the topology of the chambers of the heart, together with the types and modes of the atrioventricular, ventriculo-arterial, and venous connections. We have applied this method to a study of 35 hearts known to have isomerism of the atrial appendages. We have already published accounts of 27 of these cases, but these were reviewed for this study in the light of our increased awareness of the implications of isomerism, and 8 new cases were added. After examining, or re-examining, the morphology of every heart in detail, we grouped them together according to their ventricular topology and modes of atrioventricular connection. Then we studied the course of the specialised conduction system, by the use of the light microscope, first in each individual case, and then together in their groups. We conclude that the pathways for atrioventricular conduction in hearts with isomerism of the atrial appendages are conditioned both by ventricular topology, and by the atrioventricular connections. Based on our experience, we have been able to establish guidelines that direct the clinician to the likely location of the conduction tissues.

Background: Surgical intervention for children with congenital cardiac disease in the developing world often occurs late. Our objective was to identify factors that placed Guatemalan children at risk for delayed care. Methods: We investigated the medical and socioeconomic background of 178 children under the age of 18 years who received their first corrective surgery for congenital cardiac disease at the Unidad de Cirugía Cardiovascular de Guatemala in 2002. A retrospective review of medical records was performed. Each case was stratified into one of three surgical classes based upon customary practice in the United States of America. The outcome we measured was age at surgery, adjusting for the surgical class. Logistic regression was performed and odds ratios calculated. Results: In univariate analyses, patients presented later for surgery if they were from rural areas (p equals 0.001), did not have social security membership (p equals 0.004), or paid any amount towards the cost of their surgery (p less than 0.001). Age at surgery was also positively correlated with the distance of the home of the patient from the surgical centre (p equals 0.002). For the subset of patients who applied for financial assistance, we found that children presented later for surgery if they required institutional support (p equals 0.001), or came from households of larger size (p less than 0.001). Conclusions: Guatemalan children with congenital cardiac disease may be at risk for delayed surgical care if they come from rural areas, areas distant from the surgical centre, or from families without membership of social security.

As we described in the previous review,1 double inlet ventricle is usually found with the atrial chambers connected to a dominant left ventricle, less frequently to a dominant right ventricle, and rarely to a solitary and indeterminate ventricle. As we have also discussed in this supplement,2 double inlet to the left ventricle was, for many years, considered the exemplar of so-called “single ventricle”, despite the fact that such patients unequivocally possess one big and one small ventricle. Echocardiographic interrogation has served to resolve this controversy, showing that such patients make up a significant proportion of those having functionally univentricular hearts. Such echocardiographic investigation has also served to resolve similar controversies regarding patients having tricuspid atresia. For some time, it was argued that patients with tricuspid atresia also had “univentricular hearts”,3 but the logic used to underscore this approach was just as flawed as that used to justify the use of “single ventricle” in patients with double inlet atrioventricular connection.4,5 The increasing use of the Fontan procedure has served to demonstrate that these patients, along with many having mitral atresia in the setting of hypoplastic left heart syndrome, also have functionally univentricular arrangements. As we will show in this review, however, the anatomical substrates found in patients with atrioventricular valvar atresia are much more complex than those seen in the setting of double inlet ventricle. This is because atrioventricular valvar atresia can be produced either by absence of one atrioventricular connection, or by presence of an imperforate valvar membranes closing completely one or other of the two normal atrioventricular junctions. This important difference, combined with multiple segmental combinations, produces a bewildering array of potential anatomical substrates, with the complications magnified by the fact that, when one atrioventricular connection is absent, the other atrioventricular junction can be shared between the two ventricles, the so-called uniatrial and biventricular arrangement.6 In our review, we will first describe the anatomical options, before concentrating our attention on the more frequent patterns seen in clinical practice.

Unlike the tricuspid valve, the mitral valve has frequently received the attention of anatomists. Indeed, the drawings made by Leonardo da Vinci still retain their currency,1 whilst it was no less a personage than Andreas Vesalius who, as far as we know, first likened the bifoliate appearance of the valve to the Episcopal mitre. It was also Vesalius who recommended that the two leaflets be described as aortic and mural, reflecting their respective relationships to the aortic valve and the parietal atrioventricular junction. It was Roberts and Perloff,2 however, who emphasized the necessity, for clinical purposes, of analyzing not only the valvar leaflets, but also the overall valvar complex. As we will demonstrate in our review, this approach to analysis also proves its worth for the echocardiographic recognition of the congenitally malformed valve.