Danon Disease Diagnosed by Multimodal Imaging: A Case Report

Danon disease is an X-chromosome dominant disorder caused by variants in lysosomal-associated membrane protein-2 (LAMP-2). Patients often present with cardiac lesions as their initial symptom, including hypertrophic cardiomyopathy, arrhythmia, and heart failure. We found a case of a 13-year-old male patient with multimodal imaging suggestive of left ventricular hypertrophy, decreased left ventricular myocardial perfusion, electrocardiographic abnormalities, and abnormal serologic parameters. Genetic testing revealed a variant located in the LAMP2 gene, leading to the diagnosis of Danon disease. Danon disease is a multisystem disorder with a predominance of cardiac lesions, and it should be considered when imaging suggests myocardial hypertrophy or dilatation.