Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Cardiac Manifestations of Inborn Error of Metabolism in Pediatric Patients

유전성 대사이상 질환에서의 심장 증상에 대한 고찰

  • Oh, Jiyoung (Division of Clinical Genetics, Department of Pediatrics, Yonsei University, College of Medicine, Severance Children's Hospital Seoul)
  • 오지영 (연세대학교 의과대학 세브란스 어린이병원 임상유전과)
  • Published : 2021.12.31
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Abstract

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.

Keywords

References

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