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

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.
Competing Interests: Funding Support and Author Disclosures This paper represents the consensus opinions of the authors, borne from an International Advisory Board meeting funded by Rocket Pharmaceuticals, who also provided support for development of the Central Illustration. Dr Garcia-Pavia has received consulting fees from Lexeo Therapeutics and Rocket Pharmaceuticals. Dr Adler has served as Chief Science Officer for Lexeo Therapeutics; and has served as an advisor for Rocket Pharmaceuticals.
(Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)