Cardiovascular management of marfan syndrome in the young.
Marfan syndrome is an autosomal-dominant disorder of connective tissue resulting from a mutation in the fibrillin gene. Manifestations of the disorder primarily affect the skeletal, cardiovascular, and ocular systems. The phenotypic manifestations of this disorder can be quite variable. The major cause of morbidity and mortality in this patient population is the cardiovascular manifestations of the disorder: aortic root dilation and dissection. Individuals with this disorder are at risk for catastrophic cardiovascular events, most often as a result of aortic dissection. Although the incidence of dissection in childhood is exceedingly low, the background of a progressively dilating aortic root appears to be the major factor contributing to this risk in adulthood. Therefore, it is beneficial to identify affected individuals as early as possible to institute lifestyle changes and medical therapy in an effort to enhance their long-term outcome. Familial screening, once a case has been identified, and consideration of genetic screening of an affected family may also be helpful. Medical therapy with beta blockers, calcium channel blockers, and/or angiotensin inhibitors has been shown to be somewhat effective in slowing the rate of growth of the aorta. Exciting new data suggest that angiotensin II receptor antagonists may provide an even greater degree of protection from aortic dilatation in this population. Despite medical therapy, patients with Marfan syndrome do have progressive dilatation of their aortic root. The risk of aortic dissection increases with increasing size of the aorta. Prophylactic surgical techniques have been successful in reducing the morbidity and mortality associated with aortic dissection, resulting in a longer average life span in this patient population.
Sharkey
Angela M
AM
Division of Pediatric Cardiology, Washington University School of Medicine, One Children's Place, St. Louis, MO 63110, USA. Sharkey@wustl.edu