Ashley Waldoch

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The dilated cardiomyopathy still remains a big problem in infant's cardiology. Almost a third of patients with this diagnosis die in infancy, 30% will suffer from the chronic heart failure that forces constant treatment or/and heart transplantations, and in remaining 30% we notice improvement during infancy. We presented the clinical course and progress of(More)
The Marfan syndrome (MFS) is one of the most common (1:3000-1:4000) heritable connective tissue disorders. It's still a rarely diagnosed syndrome, especially in childhood. Near all cases MFS results from mutations in the fibrillin-1 (FBN1) gene on chromosome 15q21.1, which encodes for the glycoprotein fibrillin. The FBN1 gene is a large protein that can(More)
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