Danon disease

Case contributed by Dr Vlad Barskiy

Presentation

Skeletal myopathy. Moderate intellectual disability. Creatine kinase, troponin and LDH increased. ECG: WPW-syndrome.

Patient Data

Age: 16 years
Gender: Male
MRI

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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Case information

rID: 69602
Published: 21st Jul 2019
Last edited: 6th Sep 2019
Inclusion in quiz mode: Included
Institution: National Medical Research Center for Children's Health Russian Federation Ministry of Health

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