dc.contributor.author | Hong, Kimberly N | |
dc.contributor.author | Eshraghian, Emily A | |
dc.contributor.author | Arad, Michael | |
dc.contributor.author | Argirò, Alessia | |
dc.contributor.author | Brambatti, Michela | |
dc.contributor.author | Bui, Quan | |
dc.contributor.author | Caspi, Oren | |
dc.contributor.author | de Frutos, Fernando | |
dc.contributor.author | Greenberg, Barry | |
dc.contributor.author | Ho, Carolyn Y | |
dc.contributor.author | Kaski, Juan Pablo | |
dc.contributor.author | Olivotto, Iacopo | |
dc.contributor.author | Taylor, Matthew R G | |
dc.contributor.author | Yesso, Abigail | |
dc.contributor.author | Garcia-Pavia, Pablo | |
dc.contributor.author | Adler, Eric D | |
dc.date.accessioned | 2024-05-10T08:34:27Z | |
dc.date.available | 2024-05-10T08:34:27Z | |
dc.date.issued | 2023-10-17 | |
dc.identifier.citation | J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/19344 | |
dc.description.abstract | Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be accompanied with extracardiac neurologic, skeletal, and ophthalmologic manifestations. It is caused by loss of function variants in the LAMP2 gene and is among the most severe and penetrant of the genetic cardiomyopathies. Most patients with Danon disease will experience symptomatic heart failure. Male individuals generally present earlier than women and die of either heart failure or arrhythmia or receive a heart transplant by the third decade of life. Herein, the authors review the differential diagnosis of Danon disease, diagnostic criteria, natural history, management recommendations, and recent advances in treatment of this increasingly recognized and extremely morbid cardiomyopathy. | es_ES |
dc.description.sponsorship | This paper represents the consensus opinions of the authors, borne
from an International Advisory Board meeting funded by Rocket
Pharmaceuticals, who also provided support for development of the
Central Illustration. Dr Garcia-Pavia has received consulting fees from
Lexeo Therapeutics and Rocket Pharmaceuticals. Dr Adler has served
as Chief Science Officer for Lexeo Therapeutics; and has served as an
advisor for Rocket Pharmaceuticals. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject.mesh | Glycogen Storage Disease Type IIb | es_ES |
dc.subject.mesh | Cardiomyopathies | es_ES |
dc.subject.mesh | Heart Failure | es_ES |
dc.subject.mesh | Humans | es_ES |
dc.subject.mesh | Male | es_ES |
dc.subject.mesh | Female | es_ES |
dc.subject.mesh | Diagnosis, Differential | es_ES |
dc.subject.mesh | Consensus | es_ES |
dc.subject.mesh | Lysosomal-Associated Membrane Protein 2 | es_ES |
dc.title | International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review. | es_ES |
dc.type | review article | es_ES |
dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.identifier.pubmedID | 37821174 | es_ES |
dc.format.volume | 82 | es_ES |
dc.format.number | 16 | es_ES |
dc.format.page | 1628 | es_ES |
dc.identifier.doi | 10.1016/j.jacc.2023.08.014 | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1558-3597 | es_ES |
dc.relation.publisherversion | 10.1016/j.jacc.2023.08.014 | es_ES |
dc.identifier.journal | Journal of the American College of Cardiology | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Miocardiopatías Hereditarias | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |