Lafora Disease Is an Inherited Metabolic Cardiomyopathy
dc.contributor.author
dc.date.accessioned
2024-02-01T09:43:47Z
dc.date.available
2024-02-01T09:43:47Z
dc.date.issued
2017-06-20
dc.identifier.issn
0735-1097
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dc.description.abstract
Inherited metabolic storage cardiomyopathies, often clinically misdiagnosed, compose a small, but important, fraction of patients genotyped with clinical suspicion of hypertrophic cardiomyopathy (HCM, ≤1%). Overall, glycogen metabolism disorders affect energy homeostasis, primarily in skeletal muscle, heart, liver, and, less frequently, the central nervous system. These rare diseases are quite variable regarding age of onset, symptoms, morbidity, and mortality. Typical pathologic vacuoles containing glycogen or intermediary metabolites altering cardiac structure and function are usually described in Pompe, Danon, and Fabry diseases as well as in patients with mutations in PRKAG2, the regulatory γ subunit of AMP-activated protein kinase. In affected patients, these multisystem disorders may cause left ventricular hypertrophy that could accompany neuromuscular deficits, liver and/or kidney dysfunction, and abnormalities of the peripheral central nervous system
dc.format.extent
8 p.
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application/pdf
dc.language.iso
eng
dc.publisher
Elsevier
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Versió postprint del document publicat a: https://doi.org/10.1016/j.jacc.2017.04.029
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© Journal of the American College of Cardiology, 2017, vol. 69, núm. 24, p. 3006-3013
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Articles publicats (D-CM)
dc.rights
Reconeixement-NoComercial-SenseObraDerivada 4.0 Internacional
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dc.source
Villalba-Orero, María Sánchez-Elexpuru, Gentzane López-Olañeta, Marina Campuzano Larrea, Oscar Bello-Arroyo, Elisabet Garcia-Pavia, Pablo Serratosa, José M. Brugada, Ramon Sánchez, Marina P. Lara-Pezzi, Enrique 2017 Lafora Disease Is an Inherited Metabolic Cardiomyopathy Journal of the American College of Cardiology 69 24 3006 3013
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dc.title
Lafora Disease Is an Inherited Metabolic Cardiomyopathy
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.type.version
info:eu-repo/semantics/acceptedVersion
dc.identifier.doi
dc.identifier.idgrec
026886
dc.type.peerreviewed
peer-reviewed
dc.identifier.eissn
1558-3597