Phenocopies of sarcomere gene mediated hypertrophic cardiomyopathy in children

PROGRESS IN PEDIATRIC CARDIOLOGY(2021)

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摘要
Background: This article summarizes the non-sarcomere genes that result in hypertrophic cardiomyopathy that may present in childhood. Aim of review: While some of these forms of hypertrophic cardiomyopathy are quite rare, they are important to recognize and consider when providing genetic testing for early onset hypertrophic cardiomyopathy disease. Notably, some of these conditions have specific treatments. Key scientific concepts of review: This review will allow pediatric cardiomyopathy specialists to consider a broad range of genetic mutations that lead to pediatric onset hypertrophic cardiomyopathy.
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关键词
Pediatric cardiomyopathy, AMP-activated protein kinase, Danon disease, Fabry disease, Pompe disease, Noonan syndrome
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