Abstract
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.
Abbreviations
LAMP2, lysosome-associated membrane protein 2; HCM, hypertrophic cardiomyopathy; DCM, dilated cardiomyopathy; AF, atrial fibrillation; MRI, magnetic resonance imaging; LVEF, left ventricle ejection fraction; cTnI, cardiac troponin I; ICD, implantable cardioverter-defibrillator.
Data Sharing Statement
The datasets used and/or analysed during the current study available from the corresponding author on reasonable request.
Ethics Approval and Consent to Participate
This study was conducted with approval from the Ethics Committee of Beijing Anzhen Hospital. This study was conducted in accordance with the declaration of Helsinki. Written informed consent was obtained from all participants.
Consent for Publication
All participants signed a document of informed consent.
Disclosure
The authors declare that they have no competing interests in this work.