Hong, KN;
Eshraghian, EA;
Arad, M;
Argirò, A;
Brambatti, M;
Bui, Q;
Caspi, O;
... Adler, ED; + view all
(2023)
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Journal of the American College of Cardiology
, 82
(16)
pp. 1628-1647.
10.1016/j.jacc.2023.08.014.
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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.
| Type: | Article |
|---|---|
| Title: | International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.jacc.2023.08.014 |
| Publisher version: | https://doi.org/10.1016/j.jacc.2023.08.014 |
| Language: | English |
| Additional information: | ª 2023 THE AUTHORS. PUBLISHED BY ELSEVIER ON BEHALF OF THE AMERICAN COLLEGE OF CARDIOLOGY FOUNDATION. THIS IS AN OPEN ACCESS ARTICLE UNDER THE CC BY-NC-ND LICENSE ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ) . |
| Keywords: | Danon disease, LAMP-2, cardiomyopathy, lysosomal storage disease, rare genetic disorder |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10179609 |
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