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Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.
Eur Heart J Case Rep. 2020 Jun; 4(3):1-6.EH

Abstract

Background

Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable involvement of hepatic, muscular, neurologic, dermatologic, and cardiac systems. Cardiomyopathy seen in GSD IV is also heterogeneous and its appearance on cardiac magnetic resonance imaging (CMR) is rarely described.

Case summary

A 29-year-old man without previous medical history was admitted to our facility multiple times over 2 years for focal sensorimotor deficits, gout arthropathy, chronic hyperlactataemia and hyperuricaemia, and severe decompensated non-ischaemic cardiomyopathy complicated by episodes of thromboembolic organ infarction. Echocardiography and CMR showed severe biventricular failure with the presence of intraventricular thrombi with increased right ventricular trabeculation and absent late gadolinium enhancement. He underwent muscle biopsy which showed prominent glycogen in skeletal muscle followed by genetic testing showing a single heterozygous splicing mutation c.993-1G>T found at the junction of intron 7 and exon 8 of the GBE1 gene which had not previously been reported and was predicted to be pathologic. He was referred to a tertiary care centre with glycogen storage disease specialists but expired prior to establishing care at that facility.

Discussion

Discovery of GSD IV in our patient was unexpected due to a highly variant clinical presentation. Our case stresses the clinical heterogeneity of GSD IV and the importance of genetic sequencing studies in the evaluation of potential glycogen storage disease.

Authors+Show Affiliations

Department of Internal Medicine, Jacobi Medical Center, 1400 Pelham Pkwy S, Bronx, NY 10461, USA.Department of Internal Medicine, Jacobi Medical Center, 1400 Pelham Pkwy S, Bronx, NY 10461, USA.Department of Cardiology, Jacobi Medical Center, 1400 Pelham Pkwy S, Bronx, NY 10461, USA.Department of Radiology, Jacobi Medical Center, 1400 Pelham Pkwy S, Bronx, NY 10461, USA.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32617483

Citation

Lyo, Shawn, et al. "Case Report: Adult-onset Manifesting Heterozygous Glycogen Storage Disease Type IV With Dilated Cardiomyopathy and Absent Late Gadolinium Enhancement On Cardiac Magnetic Resonance Imaging." European Heart Journal. Case Reports, vol. 4, no. 3, 2020, pp. 1-6.
Lyo S, Miles J, Meisner J, et al. Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging. Eur Heart J Case Rep. 2020;4(3):1-6.
Lyo, S., Miles, J., Meisner, J., & Guelfguat, M. (2020). Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging. European Heart Journal. Case Reports, 4(3), 1-6. https://doi.org/10.1093/ehjcr/ytaa078
Lyo S, et al. Case Report: Adult-onset Manifesting Heterozygous Glycogen Storage Disease Type IV With Dilated Cardiomyopathy and Absent Late Gadolinium Enhancement On Cardiac Magnetic Resonance Imaging. Eur Heart J Case Rep. 2020;4(3):1-6. PubMed PMID: 32617483.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging. AU - Lyo,Shawn, AU - Miles,Jeremy, AU - Meisner,Jay, AU - Guelfguat,Mark, Y1 - 2020/05/03/ PY - 2019/08/26/received PY - 2019/10/26/revised PY - 2020/03/17/accepted PY - 2020/7/4/entrez PY - 2020/7/4/pubmed PY - 2020/7/4/medline KW - Cardiac MRI KW - Case report KW - Dilated cardiomyopathy KW - Glycogen storage disease type IV KW - Hypertrabeculation KW - Manifesting heterozygote SP - 1 EP - 6 JF - European heart journal. Case reports JO - Eur Heart J Case Rep VL - 4 IS - 3 N2 - Background: Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable involvement of hepatic, muscular, neurologic, dermatologic, and cardiac systems. Cardiomyopathy seen in GSD IV is also heterogeneous and its appearance on cardiac magnetic resonance imaging (CMR) is rarely described. Case summary: A 29-year-old man without previous medical history was admitted to our facility multiple times over 2 years for focal sensorimotor deficits, gout arthropathy, chronic hyperlactataemia and hyperuricaemia, and severe decompensated non-ischaemic cardiomyopathy complicated by episodes of thromboembolic organ infarction. Echocardiography and CMR showed severe biventricular failure with the presence of intraventricular thrombi with increased right ventricular trabeculation and absent late gadolinium enhancement. He underwent muscle biopsy which showed prominent glycogen in skeletal muscle followed by genetic testing showing a single heterozygous splicing mutation c.993-1G>T found at the junction of intron 7 and exon 8 of the GBE1 gene which had not previously been reported and was predicted to be pathologic. He was referred to a tertiary care centre with glycogen storage disease specialists but expired prior to establishing care at that facility. Discussion: Discovery of GSD IV in our patient was unexpected due to a highly variant clinical presentation. Our case stresses the clinical heterogeneity of GSD IV and the importance of genetic sequencing studies in the evaluation of potential glycogen storage disease. SN - 2514-2119 UR - https://www.unboundmedicine.com/medline/citation/32617483/Case_report:_adult-onset_manifesting_heterozygous_glycogen_storage_disease_type_IV_with_dilated_cardiomyopathy_and_absent_late_gadolinium_enhancement_on_cardiac_magnetic_resonance_imaging DB - PRIME DP - Unbound Medicine ER -
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