Glycogen storage disease type IV: Dilated cardiomyopathy as the isolated initial presentation in an adult patient

Mesaki Kenneth Ndugga-Kabuye, Joseph Maleszewski, Sirisak Chanprasert, Kelly D. Smith

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article numbere230068
JournalBMJ case reports
Volume12
Issue number9
DOIs
StatePublished - Sep 1 2019

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Glycogen Storage Disease Type IV
Dilated Cardiomyopathy
Muscle Weakness
Muscular Diseases
Heart Transplantation
Cardiomyopathies
Cardiac Myocytes
Nervous System
Signs and Symptoms
Liver Diseases
Young Adult
Biopsy

ASJC Scopus subject areas

  • Medicine(all)

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Glycogen storage disease type IV : Dilated cardiomyopathy as the isolated initial presentation in an adult patient. / Ndugga-Kabuye, Mesaki Kenneth; Maleszewski, Joseph; Chanprasert, Sirisak; Smith, Kelly D.

In: BMJ case reports, Vol. 12, No. 9, e230068, 01.09.2019.

Research output: Contribution to journalArticle

Ndugga-Kabuye, Mesaki Kenneth ; Maleszewski, Joseph ; Chanprasert, Sirisak ; Smith, Kelly D. / Glycogen storage disease type IV : Dilated cardiomyopathy as the isolated initial presentation in an adult patient. In: BMJ case reports. 2019 ; Vol. 12, No. 9.
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