Management of Marfan syndrome

Marfan syndrome is a variable, autosomal dominant connective tissue disorder, affecting mainly the cardiovascular system, eyes, and skeleton. The incidence is approximately 1 in 9800, and around 26% of cases have no family history, the condition resulting from a new mutation.1 Characteristic features include progressive aortic dilatation associated with aortic valve incompetence, mitral valve prolapse and incompetence, lens dislocation and myopia, and a tall and thin body (fig 1) with long limbs, arachnodactyly, pectus deformities, and sometimes scoliosis. Further less specific features are often detectable in the clinic, such as a high palate with dental crowding, and skin striae distensae, and other characteristic findings may be sought by radiological imaging, such as protrusio acetabulae and dural ectasia. A history of recurrent pneumothorax may be found in some cases. The clinical features have been codified into the so-called Ghent diagnostic nosology,2 as the clinical variability of the condition can otherwise make diagnosis difficult. Figure 1 Patient with Marfan syndrome. Note aesthenic or marfanoid body habitus, pronounced myopia (thick glasses), previous thoracic surgery (composite aortic root/aortic valve replacement). Residual evidence of pectus carinatum can be seen. Photograph reproduced with patient's permission. Life expectancy is primarily determined by the severity of cardiovascular involvement, and has improved substantially in the past 30 years as a result of improved medical and surgical management. In particular, β blockade reduces the rate of aortic dilatation in some patients, and, perhaps not surprisingly, the outcome of prophylactic aortic root surgery has been shown in several recent series to be superior to that of emergency surgery for dissecting aneurysm. The timing of prophylactic surgical intervention depends on a number of factors including the aortic diameter and its rate of dilatation, implying a need for regular aortic root surveillance. The optimal management of Marfan patients may therefore require lifelong medical …