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Pediatric cardiomyopathies related to fatty acid metabolism

机译:与脂肪酸代谢有关的小儿心肌病

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摘要

Inborn errors of metabolism affecting the fatty acid fi-oxidation pathway lead to cardiomyopathy, arrhythmia, and sudden death. In this article, an overview of the clinical presentations, diagnosis, treatment, and long-term outcome is provided with an emphasis on cardiovascular manifestations. With the expanded newborn screening program, these patients are coming to clinical attention earlier and the opportunity for pre-symptomatic intervention exists. It is important that clinicians are familiar with the clinical presentation, diagnostic evaluation, and management of this clinically heterogeneous group of disorders.
机译:先天性代谢错误影响脂肪酸的fi-氧化途径,导致心肌病,心律不齐和猝死。在本文中,对临床表现,诊断,治疗和长期结果进行了概述,重点是心血管表现。随着新生儿筛查计划的扩大,这些患者将得到更早的临床关注,并且存在进行症状前干预的机会。重要的是,临床医生必须熟悉这种临床上异类疾病的临床表现,诊断评估和管理。

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