Advances in cardiac involvement in children with Duchenne muscular dystrophy
10.3760/cma.j.issn.1673-4408.2023.07.002
- VernacularTitle:Duchenne型肌营养不良儿童心脏损害的研究进展
- Author:
Yiran CHEN
1
;
Mingguo XU
Author Information
1. 汕头大学医学院 515041
- Keywords:
Children;
Duchenne muscular dystrophy;
Cardiac involvement;
Dilated cardiomyopathy;
DMD gene
- From:
International Journal of Pediatrics
2023;50(7):435-438
- CountryChina
- Language:Chinese
-
Abstract:
Duchenne muscular dystrophy(DMD)is an X-linked recessive muscular disorder that affects mainly males.With its low incidence, insidious onset, and rapid progression, DMD is characterized by proximal muscle weakness, gastrocnemius hypertrophy, and markedly elevated serum creatine kinase.In addition to severe motor dysfunction, it also causes cardiac involvement in children, mainly manifested as dilated cardiomyopathy and arrhythmias.The mutations of DMD gene lead to the absence of dystrophin, which results in cytoskeletal defects and the impairment of the integrity of myocardial cell membrane.Meanwhile, calcium overload makes the myocytes more susceptible to damage.Exon deletion is the most common type of gene mutations in children with DMD, followed by point mutations, duplications and small insertion or deletion.The relationship among the clinical manifestations, pathogenesis, evaluation of cardiac damage in DMD and its genotype has not been clarified, which still needs further research and exploration, although some advances have been made recently.
