International Consensus on Differential Diagnosis and Management of Patients With Danon Disease
Year: 2023
Type: article
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.
Institutions: University of California San Diego, Tel Aviv University, Sheba Medical Center, University of Florence, Technion – Israel Institute of Technology, Centro de Investigación en Red en Enfermedades Cardiovasculares, Hospital Universitario Puerta de Hierro Majadahonda, Brigham and Women's Hospital, Great Ormond Street Hospital, University College London, Meyer Children's Hospital, University of Colorado Anschutz, Baylor College of Medicine, Texas Children's Hospital, Universidad Francisco de Vitoria, Spanish National Centre for Cardiovascular Research, Centro de Investigación Biomédica en Red
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $6,500
Funder: Medical Research Council
Award: G721957181
OpenAlex ID: W4387450104