Case Report: Danon Disease: Six Family Members and Literature Review.

ABSTRACT: Danon disease is a rare X-linked dominant genetic disorder that manifests with a clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by mutations in the lysosome-associated membrane 2 (LAMP2) gene. We report one case of Danon disease and his family members, characterized by ventricular pre-excitation, ventricular hypertrophy, abnormal muscle enzymes, and aberrant liver function. All the patients were confirmed to have Danon disease through genetic screening. Relevant literature was reviewed as a reference for the diagnosis and treatment of the disease.

SUBMITTER: Wang Y 

PROVIDER: S-EPMC9163303 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature