International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review

Authors

Kimberly N Hong
Emily A Eshraghian
Michael Arad
Alessia Argirò
Michela Brambatti
Quan Bui
Oren Caspi
Fernando de Frutos
Barry Greenberg
Carolyn Y Ho
Juan Pablo Kaski
Iacopo Olivotto
Matthew R G Taylor
Abigail Yesso
Pablo Garcia-Pavia
Eric D Adler

Language

English

Publication Date

10-17-2023

Journal

Journal of the American College of Cardiology

DOI

10.1016/j.jacc.2023.08.014

PMID

37821174

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.

Keywords

Male, Muscular Diseases, Diagnosis, Differential, Female, Humans, Lysosomal-Associated Membrane Protein 2, Consensus, Cardiomyopathies, Lysosomal Storage Diseases, Glycogen Storage Disease Type IIb, Heart Failure, Danon disease. LAMP-2. cardiomyopathy. lysosomal storage disease. rare genetic

Published Open-Access

yes

Recommended Citation

Hong, Kimberly N; Eshraghian, Emily A; Arad, Michael; et al., "International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review" (2023). Faculty and Staff Publications. 5225.
https://digitalcommons.library.tmc.edu/baylor_docs/5225