Learning objectives
- What is Marfan Syndrome
- Appropriate investigations
- Managing the patient
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Introduction
- Marfan syndrome is an autosomal dominant inherited disorder of the connective tissue
- Incidence of around 1 in 9800 and 27% of cases arise from new mutation.
Aetiology
- Weakness of the blood vessels, especially the aorta
- Progressive dilatation of the aortic root leading to aortic regurgitation, dissection, or rupture
- Possible association between Marfan syndrome and intracranial aneurysms
Clinical
- Classic triad of ocular, skeletal, and cardiovascular systems
- Thin tall stature, pectus carinatum or excavatum, scoliosis
- Joint hypermobility, arachnodactyly, pes planus
- A high arched palate, and ectopia lentis
- Aortic root dilation, usually maximal at the sinus of Valsalva
- Associated with aortic valve incompetence
- Mitral valve prolapse with incompetence may be significant
Investigations
- Assessment of family history, affected relatives Fibrillin 1 mutation testing if indicated
- Transthoracic echo
- Diagnosis by Ghent diagnostic nosology
Management
- Stroke is uncommon
- Prophylactic aortic surgery should be considered when the aortic root at the Sinus of Valsalva exceeds 5cm
References
- Marfan syndrome: clinical diagnosis and management.
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