Abnormalities of the coronary arterial circulation represent a broad spectrum of anomalies. Some of these coronary arterial anomalies are of little clinical significance and are generally discovered either as incidental findings at autopsy or at the time of diagnostic coronary angiography in patients with atherosclerotic ischaemic cardiac disease. Some of these coronary arterial anomalies, however, are associated with a markedly abnormal natural history that may include significant cardiac morbidity very early in infancy, or increased risk of cardiac sudden death in childhood or adolescence. It is therefore important that we have a system for the naming and classification of these anomalies, to stratify them according to the associated risk and to develop rational approaches to evaluation and management. To apply any system of nomenclature reliably and responsibly, it is essential that each term be associated with a definition that is known and accepted by users of terminology. Such definitions are included in the specifications of both the Society of Thoracic Surgeons Congenital Heart Surgery Database and the European Association for Cardio-Thoracic Surgery Congenital Heart Surgery Database. These databases use the Diagnostic Short List of the version of the International Paediatric and Congenital Cardiac Code derived from the nomenclature of the International Congenital Heart Surgery Nomenclature and Database Project of the European Association for Cardio-Thoracic Surgery and the Society of Thoracic Surgeons. This article will provide the nomenclature and definitions used by these databases for anomalies of the coronary arteries.

In the normal heart, the right and left coronary arteries arise from the aortic valvar sinuses adjacent to the pulmonary trunk. The right coronary artery then directly enters the right atrioventricular groove, whereas the main stem of the left coronary artery runs a short course before dividing to become the anterior interventricular and circumflex arteries. These arteries can have an anomalous origin from either the aorta or pulmonary trunk; their branches can have various anomalous origins relative to arterial pedicles. Other abnormal situations include myocardial bridging, abnormal communications, solitary coronary arteries, and duplicated arteries. Understanding of these variations is key to determining those anomalous patterns associated with sudden cardiac death. In the most common variant of an anomalous origin from the pulmonary trunk, the main stem of the left coronary artery arises from the sinus of the pulmonary trunk adjacent to the anticipated left coronary arterial aortic sinus. The artery can, however, arise from a pulmonary artery, or the right coronary artery can have an anomalous pulmonary origin. The key feature in the anomalous aortic origin is the potential for squeezing of the artery, produced by either the so-called intramural origin from the aorta, or the passage of the abnormal artery between the aortic root and the subpulmonary infundibulum.

In the past, coronary arterial anomalies have been difficult to diagnose by non-invasive methods. Identification of coronary arterial origins is now a routine part of the standard paediatric echocardiogram. Anomalous origin of a coronary artery from the pulmonary trunk is an extremely important diagnosis to make. Many echocardiographic features are not directly related to the visualisation of the coronary arterial origin. Left ventricular dilation and abnormal ventricular performance are common, along with mitral regurgitation and evidence of collateralisation of the flow from the coronary artery that has an aortic origin. In some cases, the anomalous coronary artery can be seen to arise directly from the pulmonary trunk. Congenital atresia of the main stem of the left coronary artery has a similar echocardiographic presentation, except that its aortic origin is not determined. Anomalous aortic origin of the coronary artery has important implications, as the first presenting symptom can be sudden death. With meticulous attention to the origins of the coronary arteries, echocardiographic diagnosis can also be achieved. In contrast to the anomalous origin of a coronary artery from the pulmonary trunk, ventricular performance is usually normal. Whenever there is doubt as to the definition of the origin of the coronary arteries and, indeed, when there is serious clinical concern that a coronary artery has an anomalous origin, other testing, such as cine-computed tomography, magnetic resonance imaging, or cardiac catheterisation may be indicated for confirmation or to provide greater anatomic detail.

Anomalous origin of the left coronary artery from the pulmonary artery is a rare congenital cardiac malformation that accounts for 0.25–0.50% of children with congenital cardiac disease and can cause myocardial dysfunction in young infants. In any infant presenting with ventricular dysfunction, the diagnosis of anomalous origin of the left coronary artery from the pulmonary artery must be suspected and the origin of the coronary arteries must be confirmed. The diagnosis of anomalous origin of the left coronary artery from the pulmonary artery is an indication for surgical repair. A two-coronary arterial system is the goal and is almost always achievable. The goal of surgical therapy is the creation of a two-coronary arterial system, which appears to provide better long-term survival and protection from left ventricular dysfunction and mitral valvar regurgitation than does simple ligation of the anomalous coronary artery. Direct reimplantation of the anomalous coronary artery is the procedure of choice. It is straightforward and borrows from well-practised techniques commonly used in other procedures such as the arterial switch operation. For the rare patient in whom direct reimplantation is not possible, strategies to lengthen the anomalous coronary artery, or baffle it within the pulmonary root, are available. Mitral valvar regurgitation is common at presentation, but following the establishment of a two-coronary arterial system and satisfactory myocardial perfusion, regurgitation of the mitral valve resolves in the vast majority. Therefore, mitral valvuloplasty at the time of initial surgery for anomalous origin of the left coronary artery from the pulmonary artery is not indicated. Post-operative care requires careful manipulation of inotropic support and reduction of afterload. Mechanical support, with either extracorporeal membrane oxygenation or left ventricular assist device, should be available for use if necessary.

The most commonly reported coronary arterial malformation, in accounts of sudden deaths, is anomalous aortic origin of a coronary artery. Anomalous coronary arteries may arise from the left, right, or non-coronary sinuses of Valsalva. Importantly, although the left coronary artery from the right sinus has the worst prognosis, sudden death has been reported in all variants of origin from the various sinuses of Valsalva. This paper describes a technique that addresses all of the problems relating to anomalous aortic origin of a coronary artery from the wrong sinus of Valsalva. This technique includes the transection of the ascending aorta and pulmonary trunk, coronary arterial enlargement with a pericardial patch, and lateral translocation of the pulmonary trunk to the left pulmonary artery. Anomalous aortic origin of a coronary artery from the wrong sinus of Valsalva is a potentially lethal cardiac anomaly that can be corrected in all cases using this simplified surgical technique that addresses the major anatomic and physiological problems.

The anomalous aortic origin of a coronary artery from the wrong sinus of Valsalva with interarterial, intramural, and/or intraconal course is a rare congenital anomaly that is associated with a high risk of sudden death in children. The Congenital Heart Surgeons’ Society established the Registry of Anomalous Aortic Origin of the Coronary Artery to help determine the outcome of children and young adults managed with surgical intervention versus observation and to test the hypothesis that subsets of patients with anomalous aortic origin of a coronary artery can be identified in whom the risk of intervention is less than the risk of observation. All institutional members of the Congenital Heart Surgeons’ Society were recruited for participation. The registry consists of a retrospective cohort of patients diagnosed between 1 January, 1998 and 20 January, 2009 and a prospective, population-based cohort of patients newly diagnosed from 21 January, 2009 onwards. Baseline demographics, diagnoses, and results of tests will be obtained through a review of the medical records. Annual follow-up data will be collected. Data will be analysed for different factors of risk at diagnosis, different strategies of treatment, and the impact of both on the outcomes of the patients. As of June 2010, 28 institutions had applied for approval from their institutional review board and 16 institutions had received approval from their institutional review board. Seventy-four patients have enrolled to date. We hope to use the established Pediatric Cardiomyopathy Registry as a guide to successful implementation, with a cooperative effort between institutions. The overall purpose of the Registry of Anomalous Aortic Origin of the Coronary Artery is to determine the outcome of surgical intervention versus observation in children and young adults with anomalous aortic origin of a coronary artery, and to describe the natural and “unnatural” history of these patients over the course of their lifetime. In this report, we describe the creation and design of the Registry of Anomalous Aortic Origin of the Coronary Artery. Data from the registry will be published at a later date.

Congenital coronary arterial abnormalities as isolated lesions are exceedingly rare. The electrocardiogram, while a reasonable adjunct in the diagnosis of coronary arterial abnormalities, should not supplant a good history and physical examination. Careful attention must be devoted to any signs or symptoms of ischaemic pain in the chest or syncope, which must not be overlooked. Exertional pain in the chest and exertional syncope should prompt an extensive evaluation by both the echocardiographer and the electrophysiologist. Clearance for participation in sports should be curtailed until a complete evaluation has ruled out the presence of any of the following disorders: a channelopathic mutation, a cardiomyopathy, or a congenital coronary arterial anomaly. Major abnormalities in the coronary arteries may present in the first few months of life or remain dormant until the exertional demands of adolescence unmask symptoms of myocardial ischaemia. Congenital coronary arterial anomalies may be analysed in the following major diagnostic groups: anomalous origin of the left coronary artery from the pulmonary artery, anomalous aortic origin of a coronary artery from the wrong aortic sinus of Valsalva, atresia of the left main coronary artery, myocardial bridges, and coronary arterial fistulas. The advent of state-of-the-art modalities of imaging seems, at times, to have supplanted the electrocardiogram in making the diagnosis of potentially serious coronary artery abnormalities, especially in asymptomatic patients. However, as is also the case for a detailed history and physical examination, the electrocardiogram provides a potentially insightful look at the coronary arteries. Furthermore, the past decade has witnessed an increase in the use of the electrocardiogram as a screening tool in the assessment of the risk of sudden cardiac death in athletes in high school.

Congenital anomalies of the coronary arteries are an uncommon, but important, cause of pain in the chest, myocardial ischaemia and even sudden cardiac death, especially in young individuals. This paper focuses on the surgical treatment of congenital anomalies of the coronary arteries in adults; indications for surgery and the different surgical options will be reviewed.

Neonates born with hypoplastic left heart syndrome now have a remarkably improved prognosis compared with the situation existing before the development of the Norwood sequence of operative procedures. Some of those born with hypoplastic right ventricles in the setting of pulmonary atresia with an intact ventricular septum, however, still have a relatively poor prognosis. In part this reflects the presence of fistulous communication between the cavity of the right hypoplastic right ventricle and the coronary arterial tree. Such fistulous communications are now increasingly recognised as being important in the setting of hypoplastic left heart syndrome. In this brief review, we describe the anatomy of the communications. Those found with hypoplastic right ventricles are seen most frequently when the cavity of the ventricle effectively represents only the inlet, this in turn reflecting mural overgrowth of the apical trabecular and outlet components during foetal development. This almost certainly reflects an earlier appearance of the pulmonary valvar lesion that promotes the cavitary hypoplasia. In those with hypoplastic left ventricles, the key feature differentiating those with fistulous communications is the presence of a patent mitral valve, since the left ventricle is typically no more than a virtual slit in postero-inferior ventricular wall in the setting of mitral valvar atresia or absence of the left atrioventricular connection.

Although malformations involving the ventricular outflow tracts are often described as conotruncal malformations, there is no consensus as to the lesions included in, or excluded from, this category, reflecting, in part, the current lack of precise definitions of the embryonic truncus and conus. Analysis of development of the outflow tract in terms of proximal, intermediate, and distal components greatly facilitates understanding of the morphology of the aortopulmonary window and aortoventricular tunnels. The aortopulmonary windows reflect failure to close the embryonic aortopulmonary foramen, the space between the distal end of the cushions that divide the lumen of the outflow tract itself and the dorsal wall of the aortic sac. The aortopulmonary tunnels are produced subsequent to abnormal development of the cushions themselves. The distal ends of these cushions excavate to produce the sinuses and leaflets of the arterial valves. The proximal parts of the cushions muscularise to form the subpulmonary infundibulum. The middle part of the cushion mass disappears to provide a tissue plane between the infundibulum and the aortic root. Abnormal formation of this area accounts for the various types of aortoventricular tunnel. In our brief review, we show how the anatomy of these lesions correlates with development of the outflow tract.

There is a collection of rare congenital cardiac defects that can produce significant haemodynamic embarrassment. Owing to their rarity, these lesions may be overlooked or mistaken for other more common congenital cardiac defects. Using careful segmental echocardiographic techniques, such as multiple planes of imaging and inferential Doppler findings, it is possible to identify these lesions and thus plan surgical management. Some of the lesions of importance reviewed include the aortopulmonary window, the aorto-ventricular tunnels, the aorto-atrial tunnels, and aneurysm of the sinuses of Valsalva. Some conditions such as the aortopulmonary window and aneurysm of the sinuses of Valsalva often occur in the setting of other congenital cardiac lesions. At times, the presence of coexisting lesions may mask some of the characteristic features of these defects. With prompt identification, all of these rare conditions are amenable to complete surgical repair. Newer modalities such as three-dimensional echocardiography can further enhance surgical planning.

The long-term outcome of patients with congenitally malformed hearts involving abnormal right ventricular morphology and haemodynamics is variable. In most instances, the patients are at risk for right ventricular failure, in part due to morphological differences between the right and left ventricles and their response to chronic volume and pressure overload. In patients after repair of tetralogy of Fallot, and after balloon valvotomy for valvar pulmonary stenosis, pulmonary regurgitation is the most significant risk factor for right ventricular dysfunction. In patients with a dominant right ventricle after Fontan palliation, and in those with systemic right ventricles in association with surgically or congenitally corrected transposition, the right ventricle is not morphologically capable of dealing with chronic exposure to the high afterload of the systemic circulation. In patients with Ebstein’s malformation of the tricuspid valve, the degree of atrialisation of the right ventricle determines how well the right ventricle will function as the pump for the pulmonary vascular bed.

The Fontan operation, originally described for the surgical management of tricuspid atresia, is now the final surgery in the strategy of staged palliation for a number of different forms of congenital cardiac disease with a functionally univentricular heart. Despite the improved technical outcomes of the Fontan operation, staged palliation does not recreate a normal physiology. Without a pumping chamber delivering blood to the lungs, the cardiovascular system is less efficient; cardiac output is generally diminished, and the systemic venous pressure is increased. As a result, patients with “Fontan physiology” may face a number of rare but potentially life-threatening complications including hepatic dysfunction, abnormalities of coagulation, protein-losing enteropathy, and plastic bronchitis. Despite the staged palliation resulting in remarkable survival, the possible complications for this group of patients are complex, involve multiple organ systems, and can be life threatening. Identifying the mechanisms associated with each of the rare complications, and developing strategies to treat them, requires the work of many people at many institutions. Continued collaboration between sub-specialists and between institutions will be required to optimise the care for this group of survivors with functionally univentricular hearts.

Atrioventricular septal defect with common atrioventricular junction is a relatively common congenital cardiac malformation. It sometimes presents challenging surgical problems, especially when seen in combination with tetralogy of Fallot. We describe herein our current concepts regarding surgical repair of atrioventricular septal defect with and without tetralogy, discussing indications for surgery, timing, technical aspects, and outcomes.

Dysfunction of the autonomic nervous system, or dysautonomia, is an uncommon disease. Postural orthostatic tachycardia syndrome is one of the several types of dysautonomia. Postural orthostatic tachycardia syndrome, also known as chronic orthostatic intolerance, is the most common but least severe of the dysautonomic disorders; it will serve as the model for evaluation and management of the other dysautonomias. Overall, these patients can have variable dysfunction of the autonomic nervous system that is more severe than that observed in typical neurocardiogenic syncope. Frequently, providers are not familiar with either the evaluation or the management of this syndrome, or are just not interested in doing so. This article attempts to describe strategies for evaluation and management of postural orthostatic tachycardia syndrome. The diagnosis of postural orthostatic tachycardia syndrome is made by the finding of orthostatic intolerance associated with a pulse greater than 120 beats per minute in the first 10 minutes of upright position or an elevation in pulse greater than 30 beats per minute in the first 10 minutes of upright position. Overall, these patients can have variable dysfunction of the autonomic nervous system that is more severe than that seen in typical neurocardiogenic syncope. A wide variety of associated symptoms may exist and these symptoms can have tremendous impact on the lives of the patients and their families. Management of these patients can be difficult as well as rewarding. It is helpful to perform an extensive education up front with these patients and their families. Interventions for patients with postural orthostatic tachycardia syndrome typically fall into two broad categories: non-pharmacological and pharmacological. Non-pharmacological therapies are varied, but are based primarily on ensuring adequate status of intravascular fluid. Polypharmacy may be required to control symptoms associated with postural orthostatic tachycardia syndrome. On account of the severity of their symptoms, these patients frequently have difficulty in completing their school assignments. The physician may need to help support the attempts of the family to work with the school to help the patient stay in school. As postural orthostatic tachycardia syndrome is underdiagnosed and poorly understood, it is a disease that provides an excellent opportunity to perform research. The most important studies would be those that aim to elucidate an aetiology and a pathophysiology of postural orthostatic tachycardia syndrome. In the final analysis, the role of the cardiologist in the evaluation and management of a patient with dysautonomia is to help a patient with severe disability to feel as if they are normal, or much closer to it.

The promise of the electronic health record is to provide multiple functions including the ability to easily share information among providers, the ability to order studies, the ability to improve the safety of patients, and the ability to coordinate plans of care. Efforts to achieve these goals face multiple challenges including large expenditures of money, large expenditures of time and effort, and a persistent communication gap between the designers and the users of these electronic medical records.

Patient-reported outcomes are “any outcome based on data provided by patients or patient proxy as opposed to data provided from other sources”. Examples of patient-reported outcomes are quality of life, well-being, functional status, symptoms, adherence to treatment, satisfaction with treatment, and utility or preference-based measures. The main question of this manuscript is whether patient-reported outcomes in patients with congenital cardiac disease are as good as we think they are. In general, we could say yes, because numerous studies show that patients with congenital cardiac disease have an excellent quality of life. By contrast, we could say no, because patients generally overestimate their functioning, and up to two out of three patients are not compliant with the prescribed therapy or recommendations for follow-up. However, most importantly, we have to say that we do not know whether the patient-reported outcomes are good, because research with patient-reported outcomes in congenital cardiac disease is limited. Hence, patient-reported outcomes should be a priority on the agenda for research in the domain of congenital cardiac disease.

In the United States of America, approximately 40,000 infants are born annually with congenitally malformed hearts. Children with defects that require complex surgical palliation, or definitive repair, face many challenges in achieving optimal short-term and long-term growth. The presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. In this review, we address three themes related to feeding, growth, and nutrition of infants after neonatal cardiac surgery: nutritional challenges after chylothorax; breastfeeding after surgery; and the challenges of feeding after discharge. Chylothorax is a rare complication following cardiothoracic surgery in children. Children with chylothorax have nutritional depletion secondary to protein losses in chylous fluid, hypovolaemia, and electrolyte losses. In spite of the evidence supporting the use of human milk and breastfeeding in preterm infants, barriers to its use appear to persist in infants with critical cardiac disease. Yet, human milk is the preferred form of nutrition for well, preterm, or ill infants. It is well documented that after complex neonatal cardiac surgery medical teams and families struggle with infant feeding problems. Parents have described feeding their children as difficult, time consuming, and anxiety producing. Medical complications such as chylothorax, limited access to human milk, and parental concerns and stress about feeding are but three of the myriad of factors that may contribute to poor outcomes regarding nutrition and growth. Compelling evidence exists that this multi-factorial problem must be addressed with both physiological and behavioural strategies.