A Case of DiGeorge Syndrome Associated with Complex Cardiovascular Anomalies / 대한내과학회지

ABSTRACT

DiGeorge syndrome is the developmental anomalies of the third and fourth pharngeal pouches. Recently, damages or abnormal development of the neural crest is suggested as a possible pathogenetic factor, because neural crest cells play a crucial role in development of pharyngeal pouch derivatives, e.g. thymus and parathyroid glands, as well as the aortic arches and conotruncal part of the heat. Most cases have abnormal findings of chromosome 22 and are sporadic, but familial cases have been described. Typical features of DiGeorge syndrome are congenital heart disease, aplasia or hypoplasia of the thymus and parathyroid glands and facial dysmorphism. The main problems and cause of death are severe congestive heart failure due to cardiac anomlies, hypocalcemic complications or immunocompromised conditions. As these results, most cases were expired at infantal period or early childhood. Recently, we have a case of Digeorge syndrome which was associated with complex cardiovascular anomalies(tetralogy of Fallot, atrial septal defect, right aortic arch, left hemitruncus), severe hypocalcemia, aplasia of thymus and facial dysmorphism.