A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms

Abstract

Yu-Qing Sun,1 Qiang Lv,1 Dong Chen,2 Yuwei Da,3 Xiao-Yan Zhao,4 Jian-Zeng Dong1 1Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung & Blood Vessel Diseases, Beijing, People’s Republic of China; 2Department of Pathology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung & Blood Vessel Diseases, Beijing, People’s Republic of China; 3Department of Neurology, Beijing Xuanwu Hospital, Capital Medical University, Beijing, People’s Republic of China; 4Department of Cardiology, The First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan, People’s Republic of ChinaCorrespondence: Jian-Zeng Dong, Email [email protected]: 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.Keywords: Danon disease, cardiomyopathy, serum cardiac troponin I, management

Keywords

• danon disease
• cardiomyopathy
• serum cardiac troponin i
• management