복잡 심혈관 기형을 동반한 DiGeorge 증후군 1 예

• Published in: The Korean journal of medicine Vol. 53; no. 5; pp. 714 - 719
• Main Authors: 정상무, Sang Moo Jung, 배장환, Jang Hwan Bae, 김도형, Do Hyung Kim, 나병규, Byoung Gue Na, 오태근, Tae Geun Oh, 김동운, Dong Woon Kim, 조명찬, Myeong Chan Cho
• Format: Journal Article
• Language: Korean
• Published: 대한내과학회 01.11.1997
• Subjects: Cardiovascular anomalies; DiGeorge syndrome; Hypocalcemia
• ISSN: 1738-9364

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.