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Number 08-15 Danon Disease – a rare cause of LV hypertrophy

Case from: Dorota Piotrowska-Kownacka, Lukasz Kownacki, Leszek Krolicki. Medical University of Warsaw

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

CMR cine: Severe, symmetric LV hypertrophy without LVOT obstruction, increased LV mass (400 g), long axis impairment and reduced thickening.

CMR 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.

CMR 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.

References:
Yang et al. Danon Disease as an Underrecognized Cause of Hypertrophic Cardiomyopathy in Children. Circulation. 2005;112:1612-1617. (full text)

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