2026-04-25T10:17:51Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/193442024-09-27T08:39:41Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc Hong, Kimberly N author Eshraghian, Emily A author Arad, Michael author Argirò, Alessia author Brambatti, Michela author Bui, Quan author Caspi, Oren author de Frutos, Fernando author Greenberg, Barry author Ho, Carolyn Y author Kaski, Juan Pablo author Olivotto, Iacopo author Taylor, Matthew R G author Yesso, Abigail author Garcia-Pavia, Pablo author Adler, Eric D author 2023-10-17 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. J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. http://hdl.handle.net/20.500.12105/19344 37821174 10.1016/j.jacc.2023.08.014 1558-3597 Journal of the American College of Cardiology International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.