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Metabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review

1 Dec 2024

Abstract excerpt

Background: Metabolic cardiomyopathy is characterized by structural and functional changes to the heart and interstitial fibrosis without coronary artery disease or hypertension. Inborn metabolic defects are a common cause of cardiomyopathy in children. There are more than 40 kinds of inborn metabolic defects that cause cardiomyopathy. The heart is one of the most metabolically active organs in the human body....

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PMID: 39822994
DOI: 10.21037/tp-24-476

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