The Marfan syndrome and the cardiovascular surgeon

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Abstract
The authors present the current status of surgery for the cardiovascularmanifestations of the Marfan syndrome. In addition, a brief review ofcurrent Marfan genetic research is presented. Data on all Marfan patientsundergoing aortic root replacement at the Johns Hopkins Hospital (September1976-June 1995) were analyzed. Survival and event-free curves werecalculated and risk factors for early and late death were determined byunivariate and multivariate analysis. Two hundred twelve Marfan patientsunderwent aortic root replacement using composite graft (202), homograft(8) or valve-sparing procedures (2). One hundred eighty-five patientsunderwent elective repair with no 30- day mortality. Twenty-seven patientsunderwent urgent surgery, primarily for acute dissection; two patients withaortic rupture died in the operating room. Actuarial survival of the 212patients was 88% at 5 years, 78% at 10 years and 71% at 14 years. Bymultivariate analysis, only poor NYHA class, male gender and urgent surgeryemerged as significant independent predictors of early or late mortality.Histologic examination of excised Marfan aortic leaflets byimmunofluorescent staining for fibrillin showed fragmentation ofelastin-associated microfibrils. These studies suggest cautious use ofvalve-sparing procedures in Marfan patients. Over the last 5 yearssignificant progress has been made in identifying mutant genes that codefor defective fibrillin microfibrils in Marfan patients. Attempts areunderway to develop animal models of Marfan disease for study of possiblegene therapy. Aortic root replacement can be performed in Marfan patientswith operative risk under 5%. Long-term results are gratifying. At present,valve-sparing procedures should be used cautiously in Marfan patientsbecause of fibrillin abnormalities in the preserved aortic valveleaflets.

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