Recent research on childhood hypertrophic cardiomyopathy caused by MYH7 gene mutations / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 425-430, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-981974
ABSTRACT
Hypertrophic cardiomyopathy (HCM) is the most common monogenic inherited myocardial disease in children, and mutations in sarcomere genes (such as MYH7 and MYBPC3) are the most common genetic etiology of HCM, among which mutations in the MYH7 gene are the most common and account for 30%-50%. MYH7 gene mutations have the characteristics of being affected by environmental factors, coexisting with multiple genetic variations, and age-dependent penetrance, which leads to different or overlapping clinical phenotypes in children, including various cardiomyopathies and skeletal myopathies. At present, the pathogenesis, course, and prognosis of HCM caused by MYH7 gene mutations in children remain unclear. This article summarizes the possible pathogenesis, clinical phenotype, and treatment of HCM caused by MYH7 gene mutations, in order to facilitate the accurate prognostic evaluation and individualized management and treatment of the children with this disorder.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Cardiomiopatia Hipertrófica
/
Proteínas de Transporte
/
Cadeias Pesadas de Miosina
/
Troponina T
/
Miosinas Cardíacas
/
Mutação
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2023
Tipo de documento:
Artigo
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