Author + information
- Received April 6, 2011
- Revision received April 20, 2011
- Accepted April 25, 2011
- Published online January 24, 2012.
A 14-year-old boy complained of intermittent palpitations and syncope. He also had mild mental retardation. His electrocardiogram showed type B Wolff-Parkinson-White (WPW) syndrome and left ventricular hypertrophy (LVH) (A). He underwent successful ablation, and his echocardiography (B, Online Videos 1, 3, and 4) and cardiovascular magnetic resonance imaging (C, Online Video 2) confirmed the concentric LVH; the thickness of the left ventricular posterior wall and septum were 15 mm and 14 mm, respectively. Serum creatine kinase was 2,301 U/l (normal range <198 U/l), and 100% was creatine kinase-MM by isozyme electrophoresis. Endomyocardial biopsy showed some autophagic vacuoles containing glycogen particles on electron microscopy (D). Genetic analysis revealed a 2-base pair deletion at position 257-258 (c.257_258delCC) (E) in exon 3 of the lysosome-associated membrane protein-2 gene. Danon disease was diagnosed.
Danon disease should be suspected in the teenager with WPW syndrome and concentric LVH (1); endomyocardial biopsy and genetic analysis can help make the diagnosis. Images are reproduced with permission from Cheng et al. (1).
- Received April 6, 2011.
- Revision received April 20, 2011.
- Accepted April 25, 2011.
- American College of Cardiology Foundation