Dilated cardiomyopathy
Diagnosis almost certain
Updates to Case Attributes
Presentation
was changed:
Family formhistory of dilated cardiomyopathyheart disease. OlderThe older brother died at the age of 8 years. Sister 9 years oldNine-year-old sister is healthy.
Age
changed from 5 to 5 years.
Body
was changed:
This is a familial form of dilated cardiomyopathy.
FatherThe 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.
-<p>This is a familial form of dilated cardiomyopathy. </p><p>Father has mutations in the gene DSP (desmoplakin gene), mother has mutations in the gene DSP (desmoplakin gene) and PRKAG2 gene (protein kinase AMP-activated non-catalytic subunit gamma 2).<sup> </sup></p><p>Because of progressive heart failure, the child is preparing for a heart transplant.</p>- +<p>This is a familial form of dilated cardiomyopathy. </p><p>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).<sup> </sup></p><p>Because of progressive heart failure, the child is preparing for a heart transplant.</p>
Updates to Study Attributes
Findings
was changed:
LV EDV/BSA 182ml/m2, LV EF 25%.
Severe left ventricular dilatation and reduction of contractile activity. On delayed contrast images, multiple multiple myocardial transformation sites are observed.
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