Recent studies on dilated cardiomyopathy caused by TTN mutations in children.
10.7499/j.issn.1008-8830.2208163
- Author:
Kui ZHENG
1
;
Mei-Na LOU
1
Author Information
1. Department of Cardiology, Hebei Children's Hospital/Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease, Shijiazhuang 050031, China.
- Publication Type:Journal Article
- Keywords:
Child;
Dilated cardiomyopathy;
TTN gene;
Titin;
Treatment
- MeSH:
Humans;
Cardiomyopathy, Dilated/therapy*;
Connectin/genetics*;
Genetic Therapy;
Mutation;
Phenotype
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(2):217-222
- CountryChina
- Language:Chinese
-
Abstract:
The mutations of TTN gene that encodes titin are the most common mutation type among the genetic causes of dilated cardiomyopathy (DCM). This article reviews the worldwide studies on potential molecular pathogenesis (transcription, post-translational modification, etc.), clinical phenotypes, and gene therapies of pediatric DCM caused by TTN mutations, with the hope of providing a reference for the precision treatment of pediatric DCM caused by TTN mutations.
