Pediatric cardiomyopathies related to fatty acid metabolism

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• 作者：Kevin D. Hill ; Rizwan Hamid ; Vernat J. Exil
• 关键词：Fatty acid oxidation ; Metabolism ; Arrythmia ; Cardimyopathy
• 刊名：Progress in Pediatric Cardiology
• 出版年：2008
• 出版时间：April 2008
• 年：2008
• 卷：25
• 期：1
• 页码：69-78
• 全文大小：297 K

文摘

Inborn errors of metabolism affecting the fatty acid ß-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.