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. 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.
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review / Hong, K.N., Eshraghian, E.A., Arad, M., Argirò, A., Brambatti, M., Bui, Q., Caspi, O., de Frutos, F., Greenberg, B., Ho, C.Y., Kaski, J.P., Olivotto, I., Taylor, M.R.G., Yesso, A., Garcia-Pavia, P., Adler, E.D.. - In: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. - ISSN 1558-3597. - ELETTRONICO. - 82:(2023), pp. 1628-1647. [10.1016/j.jacc.2023.08.014]
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review
Olivotto, Iacopo;
2023
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. 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.
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