Transcript Case of the week – 06-02

Case of the week 08-15: Danon disease - A rare cause of LV hypertrophy
History: 20 years old male, history of RF ablation for WPW syndrome, without prior
history of heart failure.
Echo: severe hypertrophy of LV with preserved global and regional function. Patient
referred for CMR
Cine CMR: severe, symmetric LV hypertrophy without LVOT obstruction, increased LV
mass (400 g), long axis impairment and reduced thickening..
Rest perfusion: (“first pass method”; Gd-DTPA 0.1mmol/kg b.w.; 4 ml/s): Significant
perfusion defects noted, not all sub-endocardial – atypical for coronary artery disease.
Delayed enhancement (DE): Extensive delayed enhancement, not all subendocardial,
some matching the perfusion defects. Total volume of delayed enhancement: >25 %
of LV muscle volume.
CMR interpretation: CMR results suggested a cardiomyopathy with hypertrophy,
possibly non-sarcomeric. Cardiac and skeletal muscle biopsies demonstrated Danon’s
disease.* Danon's Disease is an X linked glycogen storage disease leading to severe
LV hypertrophy and death in young males. The only available form of treatment is
cardiac transplantation.
*Stained using monoclonal antisera against N-terminal of dystrophin and antisera against LAMP-2. In
immunohistochemical analysis the vacuolar membrane seen in skeletal muscle was decorated with antibody against
dystrophin and such vacuoles were negative for LAMP-2.
Refernece: Yang et al. Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children. Circulation.
2005;112:1612-1617 (full text)
Dorota Piotrowska-Kownacka, Lukasz Kownacki, Leszek Krolicki.
Medical University of Warsaw