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
Shawn LyoMark Guelfguat

Abstract

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. 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 ha...Continue Reading

References

Jan 1, 1994·Acta Neuropathologica·T T TangM S Lubinsky
Jun 7, 2007·World Journal of Gastroenterology : WJG·Hasan Ozen
Jun 21, 2008·Journal of the American College of Cardiology·Katherine C WuJoão A C Lima
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Oct 5, 2012·Annals of Neurology·Fanny MochelAlexander Lossos
Oct 12, 2012·Case Reports in Medicine·Tolga AksuOmac Tufekcioglu
Dec 3, 2014·Journal of the American College of Cardiology·Eloisa ArbustiniJennifer L Hall
Oct 27, 2015·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Pauli PöyhönenMiia Holmström

Related Concepts

Arthritis, Gouty
Cardiomyopathy, Dilated
Cessation of Life
Dermatology Field
Echocardiography
Exons
Gadolinium
Glycogen
Glycogen Storage Disease
Glycogen Storage Disease Type IV

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Adult Polyglucosan Body Disease

Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.

Related Papers

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Daniel C ButlerAngelina Phillips
© 2021 Meta ULC. All rights reserved