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The Marfan syndrome and the cardiovascular surgeon
V L Gott1, J C Laschinger, D E Cameron
1Department of Surgery, Johns Hopkins School of Medicine, Baltimore, MD 21287-4618, USA.
Insights
Aortic root replacement surgery for Marfan syndrome offers good long-term survival. Urgent surgery, male gender, and poor heart function predict mortality, while valve-sparing procedures require caution due to fibrillin defects.
Area of Science:
- Cardiovascular Surgery
- Genetics
- Connective Tissue Disorders
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue, notably the aorta.
- Cardiovascular manifestations, particularly aortic root dilation, pose significant risks.
Purpose of the Study:
- To evaluate the outcomes of aortic root replacement in Marfan syndrome patients.
- To identify risk factors for mortality after surgery.
- To review current Marfan syndrome genetic research and its implications for treatment.
Main Methods:
- Analysis of data from 212 Marfan patients undergoing aortic root replacement (September 1976-June 1995).
- Calculation of survival and event-free curves.
- Univariate and multivariate analyses to determine risk factors for mortality.
- Histologic examination of aortic valve leaflets for fibrillin abnormalities.
Main Results:
- Actuarial survival was 88% at 5 years, 78% at 10 years, and 71% at 14 years.
- Urgent surgery, male gender, and poor NYHA class were independent predictors of mortality.
- Histologic findings showed fibrillin fragmentation in aortic leaflets, suggesting caution with valve-sparing procedures.
Conclusions:
- Aortic root replacement in Marfan syndrome is associated with favorable long-term survival.
- Risk stratification is crucial, with urgent cases and specific patient characteristics requiring closer monitoring.
- Valve-sparing aortic procedures should be approached cautiously in Marfan patients due to underlying leaflet pathology.
Abstract:
The authors present the current status of surgery for the cardiovascular manifestations of the Marfan syndrome. In addition, a brief review of current Marfan genetic research is presented. Data on all Marfan patients undergoing aortic root replacement at the Johns Hopkins Hospital (September 1976-June 1995) were analyzed. Survival and event-free curves were calculated and risk factors for early and late death were determined by univariate and multivariate analysis. Two hundred twelve Marfan patients underwent aortic root replacement using composite graft (202), homograft (8) or valve-sparing procedures (2). One hundred eighty-five patients underwent elective repair with no 30-day mortality. Twenty-seven patients underwent urgent surgery, primarily for acute dissection; 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 class, male gender and urgent surgery emerged as significant independent predictors of early or late mortality. Histologic examination of excised Marfan aortic leaflets by immunofluorescent staining for fibrillin showed fragmentation of elastin-associated microfibrils. These studies suggest cautious use of valve-sparing procedures in Marfan patients. Over the last 5 years significant progress has been made in identifying mutant genes that code for defective fibrillin microfibrils in Marfan patients. Attempts are underway to develop animal models of Marfan disease for study of possible gene therapy. Aortic root replacement can be performed in Marfan patients with operative risk under 5%. Long-term results are gratifying. At present, valve-sparing procedures should be used cautiously in Marfan patients because of fibrillin abnormalities in the preserved aortic valve leaflets.