English Version
L. Bagirzadeh

Marfan syndrome

Marfan syndrome

Schlüsselwörter Marfan syndrome; ICD 10: Q87.4; Marfan's syndrome
Keywords Marfan syndrome; ICD 10: Q87.4; Marfan's syndrome
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Marfan syndrome is an autosomal dominant, multisystem disease with a reported incidence of 1 in 3,000 to 5,000 individuals. There is a broad range of clinical severity associated with Marfan syndrome, ranging from isolated features to neonatal presentation of severe and rapidly progressive disease. Classic manifestations involve ocular (lens dislocation, myopia), cardiovascular (aortic root dilatation with aortic regurgitation, mitral valve prolapse with mitral regurgitation), and musculoskeletal abnormalities (long bone overgrowth, scoliosis, kyphosis, joint hypermobility), however involvement of the lung (pneumothorax), skin (striae), and central nervous system (dural ectasia) is also common in Marfan syndrome. Mutations in the gene (FBN1) that encodes the extracellular matrix protein, fibrillin-1, cause classic Marfan syndrome. However, up to 30% of cases have neither parent affected and represent de novo mutations. Prophylactic treatment with beta blockers is considered the standard of care in adults (unless contraindicated) and has been shown to reduce the rate of aortic dilatation. There is no definitive recommendation for either general or regional anaesthesia. Regardless of anaesthetic technique, care should be taken to prevent sudden increase in myocardial contractility, producing an increase in aortic wall tension, which could lead to aortic dissection.


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