{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T04:39:41Z","timestamp":1774327181755,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T00:00:00Z","timestamp":1495497600000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Inborn errors of metabolism (<jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>) are responsible for around 5% of all cases of cardiomyopathy (<jats:styled-content style=\"fixed-case\">CM<\/jats:styled-content>) and for 15% of non\u2010idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>) typically cause hypertrophic <jats:styled-content style=\"fixed-case\">CM<\/jats:styled-content>, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (<jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>). Mixed pathology is also possible, particularly in late presentations. <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content> such as Barth syndrome, a disorder of cardiolipin stability usually associated with <jats:styled-content style=\"fixed-case\">DCM<\/jats:styled-content>, have been associated with rarer types of <jats:styled-content style=\"fixed-case\">CM<\/jats:styled-content> such as endocardial fibroelastosis and left ventricular non\u2010compaction. Conduction disturbances can also occur, particularly in disorders of glycogen metabolism associated with <jats:italic><jats:styled-content style=\"fixed-case\">PRKAG<\/jats:styled-content>2<\/jats:italic> mutations. Cardiac screening of patients with metabolic diseases is important to guide treatment and stratify risk. Supportive cardiac treatment may be required, and although associated myocardial disease may improve or even resolve with correction of the underlying metabolic disturbance, progression to cardiac transplantation has been described. In this article we document all <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content> known to be associated with cardiac disease in children, focusing on common and clinically important diagnoses. We also discuss the pathophysiology of the various types of <jats:styled-content style=\"fixed-case\">CM<\/jats:styled-content>, and present a recommended approach to screening in the pediatric population.<\/jats:p>","DOI":"10.1111\/ped.13272","type":"journal-article","created":{"date-parts":[[2017,3,4]],"date-time":"2017-03-04T11:15:26Z","timestamp":1488626126000},"page":"525-529","source":"Crossref","is-referenced-by-count":21,"title":["Cardiac manifestations of inherited metabolic disease in children"],"prefix":"10.1111","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1759-6106","authenticated-orcid":false,"given":"David FA","family":"Lloyd","sequence":"first","affiliation":[{"name":"Department of Congenital Heart Disease Evelina Children's Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roshni","family":"Vara","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disease Evelina Children's Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujeev","family":"Mathur","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease Evelina Children's Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2005.091637"},{"key":"e_1_2_10_3_1","unstructured":"MetBioNet.MetBioNet Best Practice Guidelines: Investigation of an Inherited Metabolic Cause of Cardiomyopathy. 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