The vast majority of patients with complete transposition present during either the neonatal period or early infancy. Almost always the diagnosis and the categorization of associated lesions can be established by cross-sectional echocardiography. Doppler techniques usually provide enough information about flows to allow palliative or radical surgery to be undertaken without formal cardiac catheterization, because balloon atrial septostomy is carried out with echocardiographic imaging, often on the intensive care unit. Angiography is occasionally performed to visualize the pulmonary arteries or the aorta, and, if there is suspicion of a significant elevation of the pulmonary vascular resistance, it must be measured at cardiac catheterization. Neither cross-sectional echocardiography nor aortography is entirely reliable in identifying those patterns of the coronary arteries which are a contraindication to the arterial switch operation. There is, as yet, no evidence that either magnetic resonance imaging or transesophageal echocardiography are superior to more conventional methods of preoperative diagnosis in complete transposition and it seems unlikely that they will be required.

Our experiments using in vivo labeling techniques in the chick embryo heart have demonstrated that the straight tube heart is constituted exclusively by the primordium of the trabeculated portion of the right and left ventricles. There are, therefore, no primitive cardiac cavities. Furthermore, in the stage of looping, two new ventricular components appear, namely, the inlet and the outlet. This new information on the normal development of the heart is important in order to understand both the anatomy of the normal heart and the development of congenital malformations. Due to the fact that the straight tube heart is constituted exclusively by the primordiums of the ventricular trabeculated portions the anatomic identification of the ventricles should be made on the basis of their apical trabeculated regions. The appearance of the components of the inlet and the outlet during the process of looping is the reason for the similarity in the congenital pathology of both regions, namely, a common arterial trunk and atrioventricular septal defect with common orifice. Because the trabeculated portions of the ventricles are the oldest developmental components, they form the basis on which malformations of the inlet or the outlet, or both, are superimposed.

In this review, I have outlined the clinical picture, epidemiology, pathology, etiology, and current treatment and management of Kawasaki disease. The disease in question has unique features which cannot be classified into any of the categories of conventional pediatric diseases, and thus the elucidation of the etiology and mode of onset may well raise many new medical problems. It is hoped that young practitioners of clinical and fundamental medicine will be able to resolve the problems relating to the disease which remain as quickly as possible.

Exercise is of both physical and psychological benefit in children with congenital heart disease, leading to improved cardiovascular fitness and better quality of life. In such children, however, capacity for exercise is often impaired, and there is a risk of exercise-induced mortality or morbidity. We have reviewed the abnormal cardiovascular response to exercise in children with congenital heart defects and postoperative residua, and the role of exercise testing and training in their diagnosis and treatment. Some patients should be excluded absolutely from all but mild regular exercise because of known high risk; for example, those with severe aortic or subaortic stenosis. Other patients should be encouraged to participate in sports without any limitation; for example, those with small left-to-right shunts or mild valvar regurgitation. In many patients strict recommendations cannot be made, and one must consider the individual, the lesion and its hemodynamic implications, and the type and level of exercise contemplated. Children with congenital heart disease should be encouraged to participate in exercise and recreational sport within the limits provided by their cardiovascular defect. Understanding the pathophysiology of these defects, and knowledge of the risk of exercise in certain conditions, will allow the physician to make sensible recommendations for participation in exercise by individual patients.

Complete transposition is a morphologic entity which exists by virtue of a concordant atrioventricular connection co-existing with a discordant connection at the ventriculoarterial level. If diagnosed in this manner, all variants can be described simply and unambiguously in terms of associated malformations along with variations in relationships and infundibular morphology.

Cross-sectional echocardiography has made a major contribution to the preoperative evaluation of the patient with an atrioventricular septal defect,1−5 such that in many instances this modality has been the sole imaging technique used to formulate a medical or surgical plan6. With the advent of Doppler echocardiography additional hemodynamic information is now available, which enables the cardiologist and surgeon to evaluate the site and magnitude of associated atrioventricular valvar regurgitation, and obtain an accurate measurement of pulmonary arterial pressure along with an assessment of outflow tract obstruction, if present.

Between January 1985 and March 1990, 66 children with the tetralogy of Fallot underwent 85 cardiac catheterization procedures. The mean age at first procedure was 2.5 years (range 0.1–;14.4 years) and the mean weight was 10.4 kg ( range 2.4–36.0 kg). Diagnostic cardiac catheterization was performed in 60 procedures and balloon dilatation in 25. Hypercyanotic spells had occurred prior to 24 (28%) of the procedures (all the patients being on propranolol) and a systemic-to-pulmonary arterial shunt had been constructed before 28 (33%) procedures. Of the procedures, 54 (64%) were performed under local and 31(36%) under general anesthesia. The pulmonary trunk was entered antegradely in 52 procedures, retrogradely through a shunt in 6 and not entered in 27. Balloon dilatation was performed under general anesthesia on 25 occasions. No procedure was abandoned because of a cyanotic spell. Nine (11%) spells occurred during 86 procedures, one of the procedures being postponed because ofa spell occurring after premedication, the procedure and not, therefore, continuing to catheterization. Five spells occurred before the catheter was positioned in the heart, 2 spells occurred during catheterization. Of the spells, eight occurred during procedures in children who had not had previous shunts. Antegrade entry into the pulmonary trunk in the group with shunts was associated with no spells compared with 6/38 (18%) in the group not having undergone surgery (p<0.l). In the group not undergoing surgery, when the pulmonary trunk was not entered, 1 (5%) spell occurred during 19 procedures compared with 6/38 (18%) when the pulmonary trunk was entered (p<0.4). The only clinically important factor which significantly influenced the incidence of spells was the use of general anesthesia, which was associated with 6/31 (19%) spells compared with local anesthesia which was associated with 2/54 (4%) spells (p<0.026).

In a series of over 7,000 pregnancies referred for fetal echocardiography, atrioventricular septal defects were detected in 103 fetuses, (17% of 594 anomalies). A large proportion (42%) also had isomerism of the atrial appendages, abnormalities in arrangement and morphology of the thoracoabdominal organs, and a high incidence of associated cardiac malformations. When this was associated with abnormalities of rhythm, the fetus often showed signs of intrauterine congestive heart failure; hydrops, pleural effusion and ascites. Those with trisomic karyotypes (predominantly trisomy 21) were associated with usual atrial arrangement and concordant connections of the cardiac segments. Of the 103 fetuses, 53 were examined at autopsy. Extracardiac abnormalities were documented, and detailed morphologic examination and measurements of the heart were made. The ratios of inlet to outlet septal disproportion were not significantly different from those found in postnatal hearts. Again, as in postnatal life, those hearts with common atrioventricular orifice had a greater degree of ‘scooping’ of the ventricular septum compared to those with separate right and left atrioventricular valves. There were no significant differences in these findings in relation to the karyotype of the fetus. There was an increased incidence of ventricular dominance, and also of coarctation or hypoplasia of the aortic arch, in fetal hearts when compared to autopsied hearts obtained in postnatal life. In summary, the distinguishing morphological characteristics of atrioventricular septal defect are present from 16 weeks of gestation.

Since the success of the arterial switch procedure is dependent on the successful translocation of the coronary arteries, a thorough understanding of the anatomic variations of the coronary arteries is essential. We reviewed the anatomy of the coronary arteries encountered in 140 consecutive cases undergoing the arterial switch procedure for complete transposition at the Heart Institute of Japan. The anatomic variations, described using the Shaher and Puddu classification, varied significantly, requiring alteration in the surgical technique.

One of the most important contributions of echocardiography to the diagnosis of congenital cardiac malformations is represented by its use in prenatal evaluation. In the present work we discuss the analysis of echocardiographic findings in a preliminary study of the hearts of fetuses in 273 pregnant women. The cases have been divided into three groups. The first group of 169 women was made up of those without a known factor conferring high risk on the pregnancy. The second group of 18 women was comprised of those of suspicions of either arrhythmias or congenitally malformed hearts. The final group of 86 women, consisted of those having had previous children with congenital heart disease. The incidence of pathology in those without risk was 0.5%. In those referred because of suspicion of disease, the incidence was 16.6%, while in those with previous history of children with heart disease, the incidence was 5.8%. Our findings proved the utility of the echocardiogram for the diagnosis of heart malformations prior to birth and confirmed the increased incidence of malformations in fetuses in mothers who had previously produced children with congenital heart disease. The high incidence of cardiac abnormalities in the group referred on the basis of an earlier scan is due to the filter represented by routine echocardiography performed by the obstetricians.

Malfunctioning of the left atrioventricular valve has always been, and remains, the major incremental risk factor in the repair of atrioventricular septal defect. Now that the cardiac surgeon has ample time to assess the anatomy and function of the left valve, results have improved, but are still less than ideal. On the presumption that the anterior leaflet of the mitral valve is “cleft” in this anomaly, it used to be common practice to close the “cleft”. Currently, a substantial number of surgeons employ this technique, often irrespective of the individual anatomy, and in the majority of cases with success.

From November 1982 to July 1989, fifty patients were treated by the REV procedure for complete transposition associated with ventricular septal defect and obstruction of the pulmonary outflow tract. The age at operation ranged from 4 months to 15 years (mean 3.8 years). The technique, based on the resection of the outlet (infundibular) septum, is described in detail. Operative mortality was 18%, essentially related to technical errors or faulty indications at the beginning of our experience. There was no late death. Six patients needed reoperation for pulmonary stenosis (2 cases) or a residual defect, in some cases associated with tricuspid regurgitation. All survivors were in excellent clinical condition. The REV procedure has fewer limitations and better results than the classical approach using Rastelli's procedure.

There are a number of abnormalities of the immune system seen in children with Kawasaki disease that are widely integrated and lead eventually to the inflammatory response seen clinically as fever, rash, arthritis, coronary arteritis, etc. The initiating event remains a mystery, however the cascade of immune responses involves both T and B lymphocytes, lymphokine production, and cell adhesion. Until the etiologic agent(s)/ of Kawasaki disease is identified, therapeutic intervention must be directed at controlling the effects of the abnormal immunoregulation.

Despite improvement in the early outcome for patients undergoing complete repair of atrioventricular septal defects with a common atrioventricular orifice, the incidence of reoperation for failure of the repair of the left atrioventricular valve remains high. The surgical techniques employed in our most recent experience, including routine suture of the septal commissure and liberal use of valvar annuloplasty, were successful in achieving a very satisfactory competence of left atrioventricular valve with a iow incidence of reoperation for failure of the repair.

A persistent subcardinal anastomosis was identified as a source of right-to-left shunting in a patient with excessive cyanosis following a modified Fontan procedure. Anomalies of inferior systemic venous return must be defined when a Fontan procedure is performed by direct caval venous anastomosis to the pulmonary arteries, and hepatic venous drainage is left to mix with pulmonary venous return.

In this review, I describe our modification of the Mustard operation for hemodynamic correction of complete transposition which, in principle, consists of intraatrial construction of a caval venous confluence. A new design of the intraatrial baffle has been developed using Gore-Tex. Fewer complications have been encountered with this method when compared to other techniques of atrial redirection. The Mustard procedure, therefore, will retain a future role when anatomic abnormalities, or other circumstances, preclude anatomic correction at the arterial level.

In about 1967, a new clinical entity in infants and children was described in Japan. It was an acute febrile illness associated with engorgement of the conjunctivas, labial erythema, and swelling of the deep cervical lymph nodes without suppuration. This disease is usually called the acute febrile mucocutaneous lymph node syndrome or, more simply, Kawasaki disease.