We investigated the explanted heart and skeletal muscle biopsies in two girls, aged ten and thirteen years, who underwent cardiac transplantation because of hypertrophic cardiomyopathy secondary to LAMP2 mutations and a 41-year old female with late-onset familial LAMP2cardiomyopathy with more typical clinical phenotype.
Danon disease is a rare X-linked lysosomal disease causing severe hypertrophic cardiomyopathy (LAMP2cardiomyopathy) and an extremely poor prognosis in males, with several reported cases of sudden cardiac death despite the use of transvenous implantable cardioverter defibrillators (TV-ICD).
To determine the clinical consequences, outcome, and phenotypic expression of LAMP2cardiomyopathy associated with diagnostic and management strategies.
Primary lysosome-associated membrane protein-2 (LAMP-2) deficiency is an X-linked disease, characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation, previously known as Danon disease.