Lafora Disease Is an Inherited Metabolic Cardiomyopathy

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 muscl...

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Detalles Bibliográficos
Autores: 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
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2017
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10256/24242
Acceso en línea:http://hdl.handle.net/10256/24242
Access Level:acceso abierto
Palabra clave:Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
Miocardi -- Malalties
Myocardium -- Diseases
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spelling Lafora Disease Is an Inherited Metabolic CardiomyopathyVillalba-Orero, MaríaSánchez-Elexpuru, GentzaneLópez-Olañeta, MarinaCampuzano Larrea, OscarBello-Arroyo, ElisabetGarcia-Pavia, PabloSerratosa, José M.Brugada, RamonSánchez, Marina P.Lara-Pezzi, EnriqueCor -- Malalties -- Aspectes genèticsHeart -- Diseases -- Genetic aspectsMiocardi -- MalaltiesMyocardium -- DiseasesInherited 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 systemElsevier2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionpeer-reviewed8 p.application/pdfhttp://hdl.handle.net/10256/24242http://hdl.handle.net/10256/24242© Journal of the American College of Cardiology, 2017, vol. 69, núm. 24, p. 3006-3013Articles publicats (D-CM)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 3013reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)Inglésinfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.jacc.2017.04.029info:eu-repo/semantics/altIdentifier/issn/0735-1097info:eu-repo/semantics/altIdentifier/eissn/1558-3597Reconeixement-NoComercial-SenseObraDerivada 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0info:eu-repo/semantics/openAccessoai:recercat.cat:10256/242422026-05-29T05:05:01Z
dc.title.none.fl_str_mv Lafora Disease Is an Inherited Metabolic Cardiomyopathy
title Lafora Disease Is an Inherited Metabolic Cardiomyopathy
spellingShingle Lafora Disease Is an Inherited Metabolic Cardiomyopathy
Villalba-Orero, María
Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
Miocardi -- Malalties
Myocardium -- Diseases
title_short Lafora Disease Is an Inherited Metabolic Cardiomyopathy
title_full Lafora Disease Is an Inherited Metabolic Cardiomyopathy
title_fullStr Lafora Disease Is an Inherited Metabolic Cardiomyopathy
title_full_unstemmed Lafora Disease Is an Inherited Metabolic Cardiomyopathy
title_sort Lafora Disease Is an Inherited Metabolic Cardiomyopathy
dc.creator.none.fl_str_mv 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
author Villalba-Orero, María
author_facet 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
author_role author
author2 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
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
Miocardi -- Malalties
Myocardium -- Diseases
topic Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
Miocardi -- Malalties
Myocardium -- Diseases
description 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
publishDate 2017
dc.date.none.fl_str_mv 2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
peer-reviewed
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10256/24242
http://hdl.handle.net/10256/24242
url http://hdl.handle.net/10256/24242
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jacc.2017.04.029
info:eu-repo/semantics/altIdentifier/issn/0735-1097
info:eu-repo/semantics/altIdentifier/eissn/1558-3597
dc.rights.none.fl_str_mv Reconeixement-NoComercial-SenseObraDerivada 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Reconeixement-NoComercial-SenseObraDerivada 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 8 p.
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv © Journal of the American College of Cardiology, 2017, vol. 69, núm. 24, p. 3006-3013
Articles publicats (D-CM)
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
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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