Retrospective analysis of pediatric primary immunodeficiencies with congenital heart defects

Around 20,000 children with heart defects are born annually in the Russian Federation, among which around 5,000 children are manifested by its critical course that requires surgical correction within the first days after birth. Although timely pre- and postnatal diagnostics of congenital heart pathology allows to provide proper therapeutic and surgical assistance for such patients, it is hard to minimize severe complications at any stage of the child’s treatment. Quite often, post-surgery patients are unable to cope with serious complications caused by infectious diseases of the respiratory tract, endocardium and meninges. A special place is taken by cases of severe postoperative period: long-term non-healing postoperative wounds and septic disorders leading to patient death. Here we put forward an idea that congenital heart disease may serve as a marker of primary immunodeficiency characterized by lowered parameters of cellular and humoral immunity. Current retrospective study included 29 children died within the first year of life, whose medical records demonstrated confirmed congenital heart disease and manifested signs of immune-dependent pathology. There were analyzed data regarding pregnancy course in order to identify factors contributing to early diagnostics of immune-related pathology associated with CHD. The analysis of existing problems affecting proper diagnostics and treatment of children with congenital heart disease coupled to “covert” PID form was performed. It was noted that among twenty described syndromes manifested with congenital heart disease, seven are currently referred to the group of primary immunodeficiencies. Types of congenital heart defects in the study group ranged from disorders of the valve apparatus to the non-functional opening between heart chambers. Signs of immune-related pathology included decreased thymus size revealed by ultrasound examination as well as lowered value of genetic markers TREC and KREC, retrospectively obtained from neonatal dry blood spots. Finally, we name a key element for successful differential diagnostics of PID with congenital heart disease – awareness of various medical workers about such pathology for developing algorithms for their interaction with regard to management of such comorbid patients.