Chapter 50 - Marfan Syndrome

Summary

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by FBN1 gene mutations on chromosome 15, resulting in defective fibrillin-1 matrix glycoproteins manifesting as tissue abnormalities. Aberrant protein expressions increase and worsen with age and are most notoriously manifested in the musculoskeletal, cardiovascular, and ophthalmic systems. Cardinal clinical features include aortic root dilatation and ectopia lentis. Other clinical manifestations may include pectus excavatum or carinatum, scoliosis, dural ectasia, pulmonary involvement (emphysema, lung cysts, spontaneous pneumothorax), retrognathia, malar hypoplasia, and joint abnormalities. Aortic root dilatation is seen in approximately 50% of young children with MFS, with the risk of aortic rupture increasing during the teenage years. The Nuss procedure, a minimally invasive approach involving the placement of a retrosternal bar to correct the depressed anterior chest wall, has become the technique of choice for correction of pectus excavatum deformity. This chapter describes the anesthetic and perioperative management of a patient with MFS undergoing a Nuss procedure for correction of a pectus deformity.