Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
Pediatric Cardiology and Cardiac Surgery 33(1): 3-9 (2017)


染色体22q11欠失症:発見と合併心疾患Chromosome 22q11 Deletion Syndrome: Discovery and Associated Cardiovascular Anomalies

東京女子医科大学循環器小児科Department of Pediatric Cardiology, Tokyo Women’s Medical University ◇ Tokyo, Japan

発行日:2017年1月1日Published: January 1, 2017

高尾教授は1976年にFallot四徴症と特異顔貌と鼻声の合併として円錐動脈幹異常顔貌症候群を発見し,1984年にはこの症候群に胸腺低形成と免疫不全があることを発見した.1992年にはBurn教授との共同研究でこの症候群の染色体22q11の微細欠失を証明した.1993年には末梢血リンパ球FISH法で22q11欠失検査を開始し,22q11欠失症の先天性心疾患の全体像が明らかになった.本症候群の80%に先天性心疾患が合併し,その内訳は多い順に各種のFallot四徴症(約30%),大動脈弓離断(約15%),総動脈幹残遺(約15%),心室中隔欠損症(約15%)である.本症候群の先天性心疾患には特徴的に大血管異常が合併する.即ち,Fallot四徴症の半数は肺動脈閉鎖を合併し,その大部分で動脈管を欠如して体肺側副動脈(MAPCA)を合併する.本症のFallot四徴症には大動脈とその分枝動脈の異常(右側大動脈弓,鎖骨の高さに達する大動脈弓,動脈管欠損,肺動脈弁欠損,MAPCA, 鎖骨下動脈起始異常)が合併する.本症の大動脈弓離断はA型でなく,全てB型である.本症の総動脈幹残異では肺動脈低形成,肺動脈の交差性起始,MAPCAをしばしば合併する.本症の心室中隔欠損に大動脈異常,血管輪が時に合併する.

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.

Key words: chromosome 22q11 deletion; conotruncal anomaly face syndrome; tetralogy of Fallot; truncus arteriosus

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