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KMID : 0918520210210010001
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Journal of the Korean Society of Inherited Metabolic Disease
2021 Volume.21 No. 1 p.1 ~ p.6
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Cardiac Manifestations of Inborn Error of Metabolism in Pediatric Patients
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Oh Ji-Young
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Abstract
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Among the various etiologies of cardiomyopathy, inborn errors of metabolism (IEM) is one of the underlying causes, especially in the pediatric population. The accurate identification of the IEM of cardiomyopathy may lead to better prognosis through disease-specific management. Therefore, clinicians should always keep in mind the possibility that IEM may be one of the underlying etiologies of cardiomyopathy, and carry out multi-systematic clinical approach to diagnosis of IEM. This review covers the pathophysiology, clinical presentations, typical laboratory findings, diagnosis, and proper treatment of each type of IEM-induced cardiomyopathy in pediatric patients to gain a deeper understanding of this subject.
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KEYWORD
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Inborn Errors of Metabolism, Cardiomyopathies, Pathophysiology, Diagnosis
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