• Ehlers Danlos Syndrome

    by  • 01/09/2013 • Cardiology

    Definition

    Heterogenous group of defects of collage causing fragility and hyperelasticity of connective tissues and blood vessels

    Presentation

    1. Easy bruising
    2. Paper-thin scars
    3. Hypermobility of joints
    4. Weak aortic walls
    5. Weak gut walls

     

    Pathophysiology

    Types I, II and III – biochemical basis is unknown.

    Type IV – involves arteries, the bowel and uterus and skin. Mutations in COL3A1 produce abnormalities in structure, synthesis or secretion of type III collagen.

    Type VI – Results from mutation in gene that encodes lysyl hydroxylase

    Type VII – Defect in the conversion of procollagen to collagen; COL1A1 and COL1A2 mutations delete the N-proteinase cleavage sites.

    Spread – genetics

    Autosomal dominant except type VI which is recessive 

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