Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/19344
Title
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Author(s)
Date issued
2023-10-17
Citation
J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647.
Language
Inglés
Document type
review article
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.
MESH
Glycogen Storage Disease Type IIb | Cardiomyopathies | Heart Failure | Humans | Male | Female | Diagnosis, Differential | Consensus | Lysosomal-Associated Membrane Protein 2
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DOI
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