International Consensus on Differential Diagnosis and Management of Patients With Danon Disease
Kimberly N. Hong, Emily Eshraghian, Michael Arad, Alessia Argirò, Michela Brambatti, Quan M. Bui, Oren Caspi, Fernando de Frutos, Barry Greenberg, Carolyn Y. Ho, Juan Pablo Kaski, Iacopo Olivotto, Matthew R.G. Taylor, Abigail Yesso, Pablo García‐Pavía, Eric Adler
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.