Key result
Danon disease presenting with isolated severe cardiac symptoms features elevated troponin I and multi-system involvement.
Case Report (n=2)
Danon disease can present with isolated severe cardiac symptoms and elevated troponin I, requiring clinicians to recognize its multi-system nature and need for multidisciplinary management.
Alerts clinicians to possible Danon disease in isolated cardiac presentations with troponin elevation; leaves open broader phenotypic characterization pending prospective data.
The clinical manifestations of Danon disease, which result from the primary deficiency of the lysosome-associated membrane protein 2 gene, include cardiomyopathy, skeletal myopathy, and different degrees of intellectual disability that vary greatly among patients. The present study reports on two cases of Danon disease in two patients who only presented cardiac symptoms. Cardiac symptoms usually occur in adolescence and during a patient's twenties, and most patients die from heart failure. However, the lab results from these cases suggested that other systems were involved, despite no other clinical symptoms. Significantly, the two patients had elevated serum cardiac troponin I, which often manifests in the acute cardiac phase, especially in severely affected patients with rapidly fatal outcomes. Danon disease is a multi-system involvement disease. Therefore, clinicians must be aware of its complexity when evaluating newly diagnosed patients due to its vastly different clinical course and prognosis and the importance of multidisciplinary management.
No takes yet. Share an insight, caveat, or question.
Sun et al. (2023) conducted a case report in Danon disease (n=2). Two patients with Danon disease presenting solely with severe cardiac symptoms demonstrated elevated serum cardiac troponin I and laboratory evidence of multi-system involvement.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: