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