• Marfans Syndrome

    by  • 03/09/2013 • Cardiology


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


    1 in 5000


    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



    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



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



    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



    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. 
    VN:F [1.9.22_1171]
    Rating: 0 (from 0 votes)