Dilated cardiomyopathy

Case contributed by Vlad Barskiy
Diagnosis almost certain

Presentation

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
mri

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.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.