A Case of Hypoparathyroidism With Hypocalcemic Heart Failure Caused by DiGeorge Syndrome
10.3969/j.issn.1000-3614.2025.02.012
- VernacularTitle:DiGeorge综合征致甲状旁腺功能减退症合并低钙性心力衰竭一例
- Author:
Xiru LIAN
1
;
Liang ZHANG
;
Chunfei ZHENG
;
Wenping ZHAO
;
Xinwei JIA
;
Zhanqi WANG
;
Xiangxin LI
Author Information
1. 河北大学附属医院 心血管内科,保定 071000;河北大学临床医学院,保定 071000
- Publication Type:Journal Article
- Keywords:
TBX1 gene;
hypoparathyroidism;
hypocalcemia;
heart failure;
genetic testing
- From:
Chinese Circulation Journal
2025;40(2):186-189
- CountryChina
- Language:Chinese
-
Abstract:
DiGeorge(DGS)syndrome is an autosomal dominant disorder caused by 22q11.2 microdeletions,most patients developed the disease in childhood.22q11.2 deletion syndrome,and the mutation types are dominated by haploid deletion of this gene.We report a young patient with hypoparathyroidism(parathyroidism)induced by DGS syndrome combined with hypocalcemic heart failure.Genetic testing revealed pathogenic copy number variants associated with the clinical phenotype of the subject.About 2 674 kb of deletion variation was detected at q11.21 position on chromosome 22,which contained the TBX1 gene and was a pathogenic mutation.This paper discusses the clinical features,pathogenesis and current treatment of DGS,and emphasizes the importance of early screening,early diagnosis and treatment,and regular follow-up of heart failure,aiming to enhance the awareness of clinicians and geneticists on DGS syndrome.
