DANON DISEASE: A RARE SYSTEMIC DISORDER WITH THE LAMP2-CARDIOMYOPATHY

Abstract

Danon disease (DD) is a rare and complex pathology, difficult for diagnostics, with multisystemic presentation, which demands for multidisciplinary clinical approach, incl. cardiologists,  genetics, neurologists,  ophthalmologists  and rehabilitologists. The disorder is characterized by a classical triad of signs: phenotype  of hypertrophic  cardiomyopathy  (HCMP), skeletal myopathy and intellect deficit of various grade.

The prevalence of DD until recently is not known precisely. It is due to unrecognized origin of  myocardial  hypertrophy  caused  by  lysosomal  glycogen  retention  in cardiomyocytes. DD is a phenocopy of HCMP, but differs by a malignant course and adverse  outcome.  Rapid progression of the disease (with the development  of heart failure) is known even in moderate myocardial hypertrophy,  that requires  frequent dynamic follow-up and on-time  evaluation of heart  transplantation. Is myocardial fibrosis is found in DD, it is prognostically  adverse  factor for arrhythmia risk and sudden cardiac death. Such patients should be regarded as potential candidates for cardioverter-defibrillator implantation for primary SCD prevention.

The article  presents with clinical CASe  of delayed  diagnostics  of DD related  to mutation  in the  gene  for lisosome-associated membrane protein  2 (LAMP2), in details clinical signs are provided, as differential diagnostics  methods.