Danon disease

Excerpt

Danon disease is an X-linked dominant lysosomal disease, and is caused by primary deficiency of LAMP-2, a major lysosomal membrane protein [1, 2]. The pathological hallmark of the disease is intracytoplasmic vacuoles containing autophagic material and glycogen in cardiac and skeletal muscle cells. Danon disease is clinically characterized by the triad of cardiomyopathy, myopathy, and mental retardation [1]. However, cardiomyopathy is the dominant clinical feature and the most important prognostic factor, and Danon disease is usually misdiagnosed and treated as hypertrophic cardiomyopathy (HCM). Herein, we describe a Chinese case of Danon disease with HCM and ophthalmic abnormality that showed a new mutation in the LAMP-2 gene. The patient initially was misdiagnosed as having HCM and treated with myectomy; he is now on the list for heart transplantation. …