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World J Cardiol. Nov 26, 2014; 6(11): 1149-1155
Published online Nov 26, 2014. doi: 10.4330/wjc.v6.i11.1149
Infant with cardiomyopathy: When to suspect inborn errors of metabolism?
Stephanie L Byers, Can Ficicioglu
Stephanie 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
Author contributions: Byers SL contributed to the literature review, writing paper; Ficicioglu C contributed to the literature review, designing the major elements of the paper, writing and editing the paper
Correspondence to: Can Ficicioglu, MD, PhD, The Children’s Hospital of Philadelphia, Section of Metabolic Disease, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center blvd #9054, Philadelphia, PA 19104, United States. ficicioglu@email.chop.edu
Telephone: +1-215-5903376 Fax: +1-215-5904297
Received: May 29, 2014
Revised: July 21, 2014
Accepted: September 4, 2014
Published online: November 26, 2014
Processing time: 186 Days and 4.9 Hours
Abstract

Inborn errors of metabolism are identified in 5%-26% of infants and children with cardiomyopathy. Although fatty acid oxidation disorders, lysosomal and glycogen storage disorders and organic acidurias are well-known to be associated with cardiomyopathies, emerging reports suggest that mitochondrial dysfunction and congenital disorders of glycosylation may also account for a proportion of cardiomyopathies. This review article clarifies when primary care physicians and cardiologists should suspect inborn errors of metabolism in a patient with cardiomyopathy, and refer the patient to a metabolic specialist for a further metabolic work up, with specific discussions of “red flags” which should prompt additional evaluation.

Keywords: Cardiomyopathy; Inherited metabolic disorders; Inborn errors of metabolism

Core tip: We highlight some very helpful red flags that, when present, should point physicians in the direction of doing a metabolic workup in patients with cardiomyopathy. Short case presentations will help readers to efficiently transfer metabolic diagnostic tools in their own practice. This article will be an essential reference for physicians as they evaluate patients with cardiomyopathy.