THE MARFAN-SYNDROME AND THE CARDIOVASCULAR SURGEON

The authors present the current status of surgery for the cardiovascul ar manifestations of the Marfan syndrome. In addition, a brief review of current Marfan genetic research is presented. Data on all Marfan pa tients undergoing aortic root replacement at the Johns Hopkins Hospita l (September 1976-June 1995) were analyzed. Survival and event-free cu rves were calculated and risk factors for early and late death were de termined by univariate and multivariate analysis. Two hundred twelve M arfan patients underwent aortic root replacement using composite graft (202), homograft (8) or valve-sparing procedures (2). One hundred eig hty-five patients underwent elective repair with no 30-day mortality. Twenty-seven patients underwent urgent surgery, primarily for acute di ssection; two patients with aortic rupture died in the operating room. Actuarial survival of the 212 patients was 88% at 5 years, 78% at 10 years and 71% at 14 years. By multivariate analysis, only poor NYHA cl ass, male gender and urgent surgery emerged as significant independent predictors of early or late mortality. Histologic examination of exci sed Marfan aortic leaflets by immunofluorescent staining for fibrillin showed fragmentation of elastin-associated microfibrils. These studie s suggest cautious use of valve-sparing procedures in Marfan patients. Over the last 5 years significant progress has been made in identifyi ng mutant genes that code for defective fibrillin microfibrils in Marf an patients. Attempts are underway to develop animal models of Marfan disease for study of possible gene therapy. Aortic root replacement ca n be performed in Marfan patients with operative risk under 5%. Long-t erm results are gratifying. At present, valve-sparing procedures shoul d be used cautiously in Marfan patients because of fibrillin abnormali ties in the preserved aortic valve leaflets.