Dilated cardiomyopathy

Case contributed by Dr Vlad Barskiy


Family history of heart disease. The older brother died at the age of 8 years. Nine-year-old sister is healthy.

Patient Data

Age: 5 years
Gender: Male

LV EDV/BSA 182ml/m2, LV EF 25%.

Severe left ventricular dilatation and reduction of contractile activity. On delayed contrast images, multiple myocardial transformation sites are observed.

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

Case Discussion

This is a familial form of dilated cardiomyopathy. 

The father has mutations in the gene DSP (desmoplakin gene) while the mother has mutations in the gene DSP (desmoplakin gene) and PRKAG2 gene (protein kinase AMP-activated non-catalytic subunit gamma 2). 

Because of progressive heart failure, the child is preparing for a heart transplant.

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Case information

rID: 69512
Published: 14th Jul 2019
Last edited: 14th Aug 2019
System: Cardiac
Inclusion in quiz mode: Included
Institution: National Medical Research Center for Children's Health Russian Federation Ministry of Health

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