A Mild Version of Danon Disease Caused by a Newly Recognized Mutation in the Lysosome-associated Membrane Protein-2...

Area of Science:

• Genetics
• Cardiology
• Rare Diseases

Background:

• Danon disease is a rare genetic disorder caused by mutations in the lysosome-associated membrane protein-2 (LAMP-2) gene.
• It typically presents with severe hypertrophic cardiomyopathy, skeletal myopathy, and cognitive decline.

Observation:

• This report details a patient with a novel LAMP-2 mutation presenting with dilated cardiomyopathy, not the typical hypertrophic form.
• The patient exhibited a significantly milder clinical course, lacking neurological and musculoskeletal symptoms.

Findings:

• The patient represents a potentially unique case of prolonged survival without heart transplantation in Danon disease.
• A novel mutation in the LAMP-2 gene is identified as the cause of this atypical presentation.

Implications:

• This case underscores the importance of recognizing the variable clinical spectrum of Danon disease.
• Increased physician awareness is crucial for timely diagnosis and management of patients with LAMP-2-related disorders.
• Understanding this atypical presentation may inform future research into genotype-phenotype correlations and therapeutic strategies.