<italic>MYH7</italic>基因突变致儿童肥厚型心肌病的研究进展

doi:10.7499/j.issn.1008-8830.2211044

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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. Citation:Chinese Journal of Contemporary Pediatrics, 2023, 25(4): 425-430

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Key words： Hypertrophic cardiomyopathy MYH7 gene Gene mutation Child

Received: 08 November 2022

Cite this article:

. Recent research on childhood hypertrophic cardiomyopathy caused by MYH7 gene mutations[J]. CJCP, 2023, 25(4): 425-430.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2211044 OR http://www.zgddek.com/EN/Y2023/V25/I4/425

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