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We report a case of a 19-year-old man who presented with severe non-ischaemic dilated cardiomyopathy (NIDCM) necessitating heart transplantation, with biopsy showing aggregations of polyglucosan bodies in cardiac myocytes. He had no signs or symptoms of muscle weakness, liver dysfunction or neurologic involvement. A homozygous <jats:italic>GBE1<\/jats:italic> c.607C&gt;A (p.His203Asn) variant was identified. Our case is unusual in that our patient presented with an isolated NIDCM in the absence of other clinical manifestations of GSD IV. This case highlights the importance of considering storage disorders in young adults presenting with isolated NIDCM of unknown aetiology. It also emphasises the potential synergy between histopathological evaluation and genomic testing in enhancing diagnostic certainty.<\/jats:p>","DOI":"10.1136\/bcr-2019-230068","type":"journal-article","created":{"date-parts":[[2019,9,16]],"date-time":"2019-09-16T21:07:20Z","timestamp":1568668040000},"page":"e230068","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8310-5697","authenticated-orcid":false,"given":"Mesaki Kenneth","family":"Ndugga-Kabuye","sequence":"first","affiliation":[{"name":"Medical Genetics, University of Washington, Seattle, Washington, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Maleszewski","sequence":"additional","affiliation":[{"name":"Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirisak","family":"Chanprasert","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Washington, Seattle, Washington, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly D","family":"Smith","sequence":"additional","affiliation":[{"name":"Pathology, University of Washington, Seattle, Washington, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,9,16]]},"reference":[{"key":"2025082700333170000_12.9.e230068.1","unstructured":"Magoulas PL , El-Hattab AW . 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