Ventricular septal defects are the commonest congenital cardiac malformations. They can exist in isolation, but are also found as integral components of other cardiac anomalies, such as tetralogy of Fallot, double outlet right ventricle, or common arterial trunk. As yet, there is no agreement on how best to classify such defects, nor even on the curved surface that is taken to represent the defect. Based on our previous pathological and clinical experiences, we have reviewed the history of classification of holes between the ventricles. We proposed that the defects are best defined as representing the area of deficient ventricular septation. This then permits the recognition of clinically significant variants according to the anatomic borders, and the way the curved surface representing the area of deficient septation opens into the morphologically right ventricle. Clinical manifestation depends on the size of the defect, and on the relationship between systemic and pulmonary vascular resistances. Symptoms include failure to thrive, along with the manifestations of the increase in flow of blood to the lungs. Diagnosis can be made by physical examination, but is confirmed by echocardiographic interrogation, which delineates the precise anatomy, and also provides the physiologic information required for optimal clinical decision-making. Cardiac catheterization offers additional information regarding hemodynamics, particularly if there is a concern regarding an increase in pulmonary vascular resistance. Hemodynamic assessment is rarely necessary to make decisions regarding management, although it can be helpful if assessing symptomatic adults with hemodynamically restrictive defects. In infants with defects producing large shunts, surgical closure is now recommended in most instances as soon as symptoms manifest. Only in rare cases is palliative banding of the pulmonary trunk now recommended. Closure with devices inserted on catheters is now the preferred approach for many patients with muscular defects, often using a hybrid procedure. Therapeutic closure should now be anticipated with virtually zero mortality, and with excellent anticipated long-term survival. Ventricular septal defects are best defined as representing the borders of the area of deficient ventricular septation. An approach on this basis permits recognition of the clinically significant phenotypic variants.

Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

Aims: To take full advantage of the knowledge of cardiac anatomy, structures should be considered in their correct attitudinal orientation. Our aim was to discuss the triangle of Koch in an attitudinally appropriate fashion. Methods and results: We reviewed our material prepared by histological sectioning, along with computed tomographic datasets of human hearts. The triangle of Koch is the right atrial surface of the inferior pyramidal space, being bordered by the tendon of Todaro and the hinge of the septal leaflet of the tricuspid valve, with its base at the inferior cavotricuspid isthmus. The fibro-adipose tissues of the inferior pyramidal space separate the atrial wall from the crest of the muscular interventricular septum, thus producing an atrioventricular muscular sandwich. The overall area is better approached as a pyramid rather than a triangle. The apex of the inferior pyramidal space overlaps the infero-septal recess of the subaortic outflow tract, permitting the atrioventricular conduction axis to transition directly to the crest of the muscular ventricular septum. The compact atrioventricular node is formed at the apex of the pyramid by union of its inferior extensions, which represent the slow pathway, with the septal components formed in the buttress of the atrial septum, thus providing the fast pathway. Conclusions: To understand its various implications in current cardiological catheter interventions, the triangle of Koch must be considered in conjunction with the inferior pyramidal space and the infero-septal recess. It is better to consider the overall region in terms of a pyramidal area of interest.

There is considerable confusion as to how best describe the components of the arterial valves. It is hardly surprising, therefore, that similar uncertainties apply to concepts for their development. In this review, we describe the anatomy of the arterial valves as seen in the postnatal heart. We suggest that their working components are best described as leaflets, housed in supporting arterial sinuses. The roots surrounding the leaflets, which are hinged in semilunar fashion, can then be defined as extending from a virtual ring at their base to the sinutubular junction. We also discuss the problems related to definition of the valvar “annulus”. Understanding the development of the arterial roots, which are formed in the central part of the embryonic outflow tract, is facilitated by considering the outflow tract itself as possessing three components, as opposed to the traditional “conus” and “truncus”. These three parts can be described as being distal, intermediate, and proximal. The distal part is separated to form the intrapericardial arterial trunks, while the proximal part becomes the ventricular outflow tracts. It is the intermediate component that houses the developing arterial valves, and their supporting valvar sinuses. The distal parts of the cushions that separate the outflow tract into aortic and pulmonary components, along with the intercalated cushions, excavate to form the leaflets. The walls of the sinuses are formed by growth of non-myocardial tissues from the heart-forming area. We then show how these features can be used to interpret the anatomy and development of congenitally malformed arterial valves.

Pediatric cardiologists treating patients with severe congenital cardiac defects define “visceral heterotaxy” on the basis of isomerism of the atrial appendages. The isomeric features represent an obvious manifestation of disruption of left-right asymmetry during embryonic development. Thus, there are two subsets of individuals within the overall syndrome, with features of either right or left isomerism. Within the heart, it is only the atrial appendages that are truly isomeric. The remainder of the cardiac components shows variable morphology, as does the arrangement of the remaining body organs. Order is provided in this potentially chaotic arrangement simply by describing the specific features of each of the systems. These features as defined by clinicians, however, seem less well recognized by those investigating the developmental origins of the disruption of symmetry. Developmental biologists place much greater emphasis on ventricular looping. Although the direction of the loop can certainly be interpreted as representing an example of asymmetry, it is not comparable to the isomeric features that underscore the clinical syndromes. This is because, thus far, there is no evidence of ventricular isomerism, with the ventricles distinguished one from the other on the basis of their disparate anatomical features. In similar fashion, some consider transposition to represent abnormal lateralization, but again, clinical diagnosis depends on recognition of the lateralized features. In this review, therefore, we discuss the key questions that currently underscore the mismatch in the approaches to “lateralization” as taken by clinicians and developmental biologists.

This clinical consensus document proposes standardized atrial segments for 3D imaging, electroanatomical mapping and computational modelling, based on anatomical, electrophysiological and clinical considerations, with precise definitions of regional borders allowing for reproducible and automated regionalization. 3D imaging and high-resolution electroanatomical mapping have become an integral part of cardiac electrophysiology and the management of patients with arrhythmias. However, to perform regional quantitative analyses and intra- and inter-individual, as well as cross-modality comparisons, a universal definition of atrial regions and their boundaries is required. While for the left ventricle there is already an established standardized regionalization (AHA 17-segment model), there is no such consensus for the atria. In a multi-disciplinary writing group consisting of cardiologists, cardiac electrophysiologists, cardiovascular imaging specialists, and anatomists as well as specialists in computational cardiac modelling from European Heart Rhythm Association and European Association of Cardiovascular Imaging, a standardized regionalization based on a 15-segment bi-atrial model was elaborated. This clinical consensus document will enable consistent regional analyses and homogeneous data acquisition across different centres and modalities, and may thus have a significant impact on atrial arrhythmia research and personalized treatment approaches based on individual arrhythmia patterns and phenotypes.