• Marfans Syndrome

    by  • 03/09/2013 • Cardiology

    Definition

    Connective tissue disorder (collagen synthesis), with a marfan habitus

    Incidence

    1 in 5000

    Presentation

    1. Skeletal abnormalities:
    2. Tall stature
    3. Arm span greater than height
    4. Arachnodactyly – long fingers
    5. Sternal depression
    6. Lax joints
    7. High arched palate

     

    Cardiovascular:

    1. Ascending aortic aneurysm formation
    2. Aortic dissection (p/c: tearing pain between shoulder blades and clinical hypovolaemic shock)
    3. Aortic valve incompetence (AR, due to dilation of aortic root)
    4. Mitral valve regurgitation and prolapse

     

    Lungs

    1. Spontaneous pneumothorax
    2. Sleep apnoea
    3. Idiopathic obstructive lung disease

     

    Diagnostic/Investigation

    1. Chest xray
    2. Often normal but may show signs of aortic aneurysm or of widened mediastinum.

     

    1. ECG
    2. May be misleadingly normal with an acute dissection.
    3. Usually in conjunction with mitral valve prolapse
    4. 40% have arrhythmia.

     

    1. Echocardiography
    2. Shows Mitral valve prolapse and mitral regurgitation.

     

    Spread – genetics

    1. Autosomal dominant
    2. Mutation in MFS1 for fibrillin (FBN-1) on chromosome 15q21

     

    Treatment/management

    1. Beta-blocker therapy slows the rate of dilation of the aortic root.
    2. Lifestyle alterations may be indicated.
    3. Patient should be monitored with yearly echocardiograms. 
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