Danon disease

Case contributed by Dr Vlad Barskiy

Presentation

Creatine kinase, troponin and LDH increased. ECG: ventricular pre-excitation phenomenon. No myopathy. Moderate mental disorders.

Patient Data

Age: 11 years
Gender: Male
MRI

LV EDV/BSA 84ml/m2

LV EF 77%

Myocardial symmetrical hypertrophy (IVS 20mm) with structural changes (arrows).  

Photo

Chromatogram of LAPM-2 gene sequencing using sanger method.

This is the X chromosome of the patient. The DNA strand is read twice. Compared with normal DNA is determined by the deletion of three nucleotides.

The case is presented together with my colleagues: Anikin A., Yarmola I. and Basargina E.

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 mutation leads to dysfunction of the muscle cells. The disease manifests itself in the form of cardiomyopathy, myopathy and mental disorders.

The patient has a mutation of the LAMP2 gene in exon 7 c.889_891del, resulting in a deletion of the amino acid p.Lys297del.

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