Congenital heart disease with 22q11.2 deletion syndrome

VernacularTitle:先天性心脏病并22q11.2缺失综合征
Author: Bin LI ; Taibing FAN ; Xuelan LIU
From: Chinese Journal of Applied Clinical Pediatrics 2021;36(9):717-720
CountryChina
Language:Chinese
Abstract: 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.