Key result
Multimodal imaging successfully diagnoses rare X-linked Danon disease caused by LAMP-2 loss-of-function mutations.
Why the study?
Danon disease is a rare X-linked dominant disorder with primarily cardiac manifestations that require accurate diagnosis through multimodal imaging and genetic testing.
Case Report (n=1)
Multimodal imaging combined with genetic testing is key to accurately diagnosing Danon disease in young men with myocardial hypertrophy and pre-excitation.
Supports multimodal imaging in suspected Danon disease; hypothesis-generating for other storage cardiomyopathies.
BACKGROUND: Danon disease is a rare X-linked dominant disorder caused by loss-of-function mutations in lysosome-associated membrane protein-2 (LAMP2). CASE SUMMARY: We report an 18-year-old male patient in which multimodal imaging revealed left ventricular hypertrophy, reduced myocardial perfusion, electrocardiographic evidence of pre-excitation, abnormal serologic parameters, and histopathologic abnormalities. Genetic testing identified a variant in LAMP2, confirming the diagnosis of Danon disease. Testing of his mother and 3 children also revealed the LAMP2 variant. DISCUSSION: Patients with Danon disease primarily present with cardiac manifestations, including hypertrophic cardiomyopathy, arrhythmia, and heart failure. TAKE-HOME MESSAGES: Young men exhibiting myocardial hypertrophy, elevated plasma creatine kinase, pre-excitation on electrocardiography, and/or characteristic late gadolinium enhancement on cardiac magnetic resonance should be evaluated for Danon disease. Multimodal imaging (echocardiography, cardiac magnetic resonance) combined with genetic testing is key to accurate diagnosis. Family screening and genetic counseling are crucial given the X-linked dominant-inheritance pattern.
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Li et al. (2026) conducted a case report in Danon disease (n=1). Multimodal imaging and genetic testing was evaluated on Diagnosis of Danon disease. Multimodal imaging combined with genetic testing successfully diagnosed Danon disease in an 18-year-old male presenting with left ventricular hypertrophy and pre-excitation.
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