Connective tissue disorder (collagen synthesis), with a marfan habitus
1 in 5000
- Skeletal abnormalities:
- Tall stature
- Arm span greater than height
- Arachnodactyly – long fingers
- Sternal depression
- Lax joints
- High arched palate
- Ascending aortic aneurysm formation
- Aortic dissection (p/c: tearing pain between shoulder blades and clinical hypovolaemic shock)
- Aortic valve incompetence (AR, due to dilation of aortic root)
- Mitral valve regurgitation and prolapse
- Spontaneous pneumothorax
- Sleep apnoea
- Idiopathic obstructive lung disease
- Chest xray
- Often normal but may show signs of aortic aneurysm or of widened mediastinum.
- May be misleadingly normal with an acute dissection.
- Usually in conjunction with mitral valve prolapse
- 40% have arrhythmia.
- Shows Mitral valve prolapse and mitral regurgitation.
Spread – genetics
- Autosomal dominant
- Mutation in MFS1 for fibrillin (FBN-1) on chromosome 15q21
- Beta-blocker therapy slows the rate of dilation of the aortic root.
- Lifestyle alterations may be indicated.
- Patient should be monitored with yearly echocardiograms.