日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

The late Dr. Takao (1925–2006), professor emeritus of Tokyo Women’s Medical University, discovered the conotruncal anomaly face syndrome in 1976. This syndrome is a combination of dysmorphic facial appearance, nasal speech, and congenital conotruncal heart anomalies. Dr. Takao later discovered the association of thymic hypoplasia and immune deficiency with this syndrome. In 1992, he and Dr. Burn identified a chromosome 22q11 deletion (del22q11) in five Japanese patients with this syndrome. Since 1993, data from 200 patients with del22q11 have been collected, and detailed cardiovascular studies have been performed at his hospital, which have helped to identify the associated cardiovascular anomalies that typically present with this syndrome. Eighty percent of patients with del22q11 syndrome have congenital heart diseases, including tetralogy of Fallot (30％), interrupted aortic arch (15％), truncus arteriosus (15％), and ventricular septal defect (15％). In 50％ of patients with tetralogy of Fallot, pulmonary atresia occurs, and the major aortopulmonary collateral artery (MAPCA) is typically present. Tetralogy of Fallot cases with del22q11 is more commonly associated with arterial anomalies than tetralogy cases without the deletion. These associated aortic anomalies include a right aortic arch and an elongated high aortic arch. The associated arterial anomalies include absence of the ductus arteriosus, MAPCA, anomalous origin of the subclavian artery, isolation of the subclavian artery, isolation of a pulmonary artery (absence of a pulmonary artery), and aortic (Kommerell’s) diverticulum. Interruption of the aortic arch is type B in del22q11. Truncus arteriosus with del22q11 is associated with pulmonary artery hypoplasia, MAPCA, and crossing of the pulmonary arteries.