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Infant with cardiomyopathy: When to suspect inborn errors of metabolism?

Stephanie L Byers1, Can Ficicioglu1

  • 1Stephanie L Byers, Can Ficicioglu, The Children's Hospital of Philadelphia, Section of Metabolic Disease, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States.

World Journal of Cardiology
|November 28, 2014
PubMed

Insights

Inborn errors of metabolism are found in 5%-26% of pediatric cardiomyopathy cases. This review highlights key indicators for suspecting metabolic disorders and referring patients for specialized evaluation.

Area of Science:

  • Metabolic disorders
  • Cardiology
  • Pediatrics

Background:

  • Inborn errors of metabolism (IEM) are identified in 5%-26% of infants and children diagnosed with cardiomyopathy.
  • While fatty acid oxidation disorders, lysosomal and glycogen storage disorders, and organic acidurias are established causes, emerging evidence points to mitochondrial dysfunction and congenital disorders of glycosylation.

Purpose of the Study:

  • To guide primary care physicians and cardiologists in identifying patients with cardiomyopathy who may have an underlying inborn error of metabolism.
  • To outline specific "red flags" prompting referral to a metabolic specialist for further diagnostic workup.

Main Methods:

  • This is a review article.
  • It synthesizes current knowledge on IEM associated with cardiomyopathy.
  • It focuses on clinical indicators and diagnostic referral criteria.

Main Results:

  • A significant proportion of pediatric cardiomyopathies are linked to IEM.
  • Recognizing specific clinical signs and symptoms is crucial for early diagnosis.
  • Timely referral to metabolic specialists improves patient management.

Conclusions:

  • Primary care physicians and cardiologists should maintain a high index of suspicion for IEM in children with cardiomyopathy.
  • Prompt metabolic workup is essential for patients presenting with suggestive "red flags".
  • Early identification and management of IEM can improve outcomes in pediatric cardiomyopathy.

Keywords:
CardiomyopathyInborn errors of metabolismInherited metabolic disorders

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