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22q11.2缺失综合征(22q11.2DS)是继唐氏综合征之后引起先天性心脏病(CHD)的第2大常见原因。过去数十年在描述CHD合并22q11.2DS的解剖类型、遗传病理机制及提高此类疾病的诊断、治疗水平等方面取得了很大进步，但心脏畸形仍是22q11.2DS患者死亡的主要原因，需进一步研究来阐明不同心脏表型的遗传机制及探索改进预后的多学科联合治疗方案。对CHD患者进行22q11.2基因检测有利于早期诊断及综合治疗。“,”22q11.2 deletion syndrome (22q11.2DS) is the second leading chromosomal cause of congenital heart disease (CHD) after Down syndrome.In the past few decades, great progress has been made in describing the anatomical types, potential heredity, and pathogenesis of CHD complicated with 22q11.2DS in terms of improving the diagnosis and treatment of these diseases.However, cardiac malformation is still the leading cause of death in 22q11.2 DS.Further studies are needed to elucidate the genetic mechanism behind high phenotypic variability of CHD and to explore the multidisciplinary treatment for the improvement of the prognosis.22q11.2 gene detection in patients suffering from CHD may provide useful insights into early diagnosis and multidisciplinary treatment.