Cardiac Transplantation in Danon Disease

Area of Science:

• Cardiology
• Genetics
• Transplantation Medicine

Background:

• Danon disease (DD) is a severe X-linked dominant cardioskeletal myopathy.
• Caused by mutations in the lysosome-associated membrane protein-2 (LAMP-2) gene.
• Often fatal without timely cardiac transplantation.

Purpose of the Study:

• To evaluate post-transplant outcomes in patients with Danon disease.
• To assess graft survival and rejection rates after cardiac transplantation in DD patients.

Main Methods:

• Retrospective analysis of 38 Danon disease patients (19 males, 19 females) from 8 centers.
• Data collected on clinical phenotype, graft survival, rejection episodes, and cardiac allograft vasculopathy.
• Outcomes analyzed at 1 year post-transplant.

Main Results:

• Median follow-up was 4.4 years; median age at transplant was 20.2 years.
• Overall 5-year graft survival was 87.1%, with no significant difference between sexes.
• Low rates of antibody-mediated rejection (2.7%) and moderate acute cellular rejection (19%) observed.

Conclusions:

• Cardiac transplantation demonstrates acceptable outcomes for Danon disease patients.
• High 5-year graft survival rates support cardiac transplantation as an effective treatment option.
• This intervention offers a favorable prognosis for individuals with DD.