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Rare disease
CASE REPORT
Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient
  1. Mesaki Kenneth Ndugga-Kabuye1,
  2. Joseph Maleszewski2,
  3. Sirisak Chanprasert1 and
  4. Kelly D Smith3
  1. 1 Medical Genetics, University of Washington, Seattle, Washington, USA
  2. 2 Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
  3. 3 Pathology, University of Washington, Seattle, Washington, USA
  1. Correspondence to Dr Mesaki Kenneth Ndugga-Kabuye, mnk9{at}uw.edu

Abstract

Glycogen storage disease type IV (GSD IV, Andersen disease) is a rare autosomal recessive condition. The childhood neuromuscular subtype of GSD IV is characterised by a progressive skeletal myopathy with cardiomyopathy also reported in some individuals. 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 GBE1 c.607C>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.

  • genetic screening / counselling
  • heart failure
  • pathology
  • genetics

https://doi.org/10.1136/bcr-2019-230068

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    Footnotes

    • Contributors MKN-K performed chart review and literature searches, collected and analysed the data, and reported the work described in the article. SC evaluated the patient, performed chart review, literature searches, reviewed and edited the article. JM and KDS were the pathologists involved in this case, they performed chart review, literature searches, reviewed and edited the article.

    • Funding This study was funded by National Institutes of Health (http://dx.doi.org/10.13039/100000002) and grant no: 5T32GM007454.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Obtained.