Presentation
Skeletal myopathy. Moderate intellectual disability. Creatine kinase, troponin and LDH increased. ECG: WPW-syndrome.
Patient Data
LV EDV/BSA 208 ml/m.
LV EF 22%.
IVS 24 mm.
Severe dilatation of LV, heterogeneous myocardial hypertrophy, hypo- and asynchrony of ventricular myocardial contractions.
Large areas of change in the structure of the myocardium of LV and RV on LGE.
Case Discussion
Danon disease is a genetic X-linked dominant disorder. The disease is linked to genetic defects in the lysosome-associated membrane protein 2 (LAMP2) gene, encoding the LAMP2 protein.
The diagnosis in this patient was confirmed confirmed genetically and with biopsy (fibrosis with PAS positive inclusions – glycogen).
This patient died as a result of fatal arrhythmias in half a year after the diagnosis.
The case is presented together with my colleagues: Anikin A., Yarmola I. and Basargina E.
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