Syndrome of congenital cardiac disease with asplenia: Distinction from other forms of congenital cyanotic cardiac disease

Abstract The pathologic and clinical features in 17 patients with congenital cardiac disease in association with agenesis of the spleen have been presented. Pathologically, the cases fell into two groups as follows: those with two ventricles and a large ventricular septal defect (10 cases), and those with a common ventricle (7 cases). Conotruncal abnormalities were present in each case. These consisted of pulmonary stenosis or atresia (17 cases) and transposition of the great vessels (16 cases). Ventricular and infundibular inversion was common, occurring in 8 cases with two ventricles and 5 cases with common ventricle, respectively. “Endocardial cushion defects” were found in each of the 17 cases. Persistent common atrio-ventricular canal was present in 16, and an “ostium primum” atrial septal defect, in association with mitral atresia, was seen in the seventeenth case. Atrial septal defects were present in each case. In 13 instances, the only remnant of the atrial septum was a narrow strand of tissue between two large coexisting defects (the condition referred to herein as common atrium). The common occurrence of anomalies of the systemic and pulmonary veins was noted. Among the 17 cases, bilateral superior venae cavae with absent coronary sinus were found in 15 and anomalous pulmonary venous connections occurred in 12. Malposition of the viscera was represented by the finding of mirror-image dextrocardia in 1, dextroversion of the ventricles in 9 and abdominal heterotaxia in 13 cases. The finding of the cardiac apex and stomach on opposite sides was noted primarily in cases with common ventricle and may be helpful in the clinical diagnosis of this condition. There was a tendency toward bilateral symmetry of the organs characterized by the universal presence of bilateral three-lobed lungs, a large, transverse liver, absence of the spleen (the only unilateral organ in the body) and by the very frequent presence of common atrium, persistent common atrioventricular canal and bilateral superior venae cavae, and malrotation of the intestine. The patients presented, usually as young infants, with obvious cyanosis from birth. Electrocardiographically, the occurrence of left axis deviation and a counterclockwise QRS loop in the frontal plane suggesting the presence of an A-V commune defect, may help separate these patients with complicated cardiac malformations and asplenia from other patients with cyanotic congenital cardiac disease but with less complex malformations and without asplenia. In 5 cases of common ventricle and asplenia, the “A-V commune electrocardiogram” was absent, even though a complete form of persistent common atrioventricular canal was present in each. Routine thoracic and abdominal roentgenograms, as well as angiocardiographic studies, have proved to be the most effective means of establishing the clinical diagnosis of the asplenic syndrome. The angiocardiogram may identify many of the intracardiac and associated vascular anomalies found in this condition. The clinical features which are most useful in identifying cases of cyanotic congenital cardiac disease associated with asplenia include: (1) hematologic signs of asplenia; (2) electrocardiographic features of persistent common atrioventricular canal; and (3) radiologic evidence of hepatic symmetry, evidence of diminished pulmonary blood flow, and transposed great vessels.