Congenital heart disease with 22q11.2 deletion syndrome / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 717-720, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-882890
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Screening study
Language:
Chinese
Journal:
Chinese Journal of Applied Clinical Pediatrics
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS