Marfan syndrome: literature review of mortality studies

Abstract

Marfan syndrome is an autosomal dominant heritable disorder of fibrous connective tissue due to mutation in the fibrillin-1 gene, located on chromosome 15. Early mortality from Marfan syndrome results from aortic dilatation. The medical literature contains long-term follow-up series of patients with Marfan syndrome accrued at major medical centers that address overall survival following surgical intervention, and prognosis in relation to certain risk factors such as family history and aortic root diameter. Mortality analyses based on these data are presented in this paper. Advances in surgical and medical therapy have improved mortality of affected individuals over the past 2-3 decades. However, significant mortality occurs, peaking in the third and fourth decades of life. Although surgery is successful treatment of aortic dissection, one cannot conclude that surgical repair confers a mortality advantage. Emergency surgery and history of aortic complications in first-degree relatives are associated with a higher mortality. Chronic beta-blocker therapy may slow the rate of aortic dilatation and may be associated with more favorable prognosis. Clinical research evaluating beta-blockade, echo assessment of the aortic root diameter progression, and gene mutation analysis may provide tools useful for future morality assessments.