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Marfan's syndrome: natural history and long-term follow-up of cardiovascular involvement
D L Marsalese1, D S Moodie, M Vacante
1Department of Cardiology, Cleveland Clinic Foundation, Ohio 44195-5066.
Abstract:
A retrospective analysis was undertaken to define the natural history and long-term follow-up of a group of patients with Marfan's syndrome. Eighty-four patients were diagnosed between January 1959 and June 1987 as having Marfan's syndrome; 68% were male; their ages ranged from 2 to 67 years (mean 26.6). Sixteen patients constituted the early surgical group (those who underwent surgery before 1979; mean age 36.1 years). Nineteen patients constituted the late surgical group (surgery in 1979 or later; mean age 33.3 years). The nonsurgical group comprised 49 patients (mean age 19.3 years). Fifty-seven percent of the patients had a diastolic murmur and 38% had cardiomegaly at presentation. Fifty-seven percent underwent cardiac catheterization, which revealed aortic root dilation (85%), aortic regurgitation (73%), aortic dissection (33%) and mitral regurgitation (36%). Thirteen of the 19 patients in the late surgical group received a composite graft repair of the ascending aorta as compared with only 2 of the 16 in the early surgical group. Follow-up information was obtained on 81 (96%) of 84 patients; the follow-up time was 2 to 332 months (mean 99). Thirty-one of the 81 patients died at age 3 to 63 years (mean age 35 years); 87% of the known causes of death were related to the cardiovascular system. Sixty-one percent of deaths were the result of aortic dissection or rupture or sudden cardiac death. Of the 50 survivors, 98%, including all patients in the late surgical group, were in functional class I or II. Overall survival at 5, 10 and 15 years after operation was 78.4%, 57.1% and 49.5%, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
Insights
This study on Marfan syndrome patients found that cardiovascular complications, particularly aortic dissection, are the main cause of death. However, modern surgical techniques, like composite graft repair, significantly improve long-term survival and functional class in patients.
Area of Science:
- Cardiology
- Genetics
- Thoracic Surgery
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue, leading to cardiovascular complications.
- Long-term natural history and outcomes of Marfan syndrome patients require further definition.
Purpose of the Study:
- To define the natural history and long-term follow-up of patients diagnosed with Marfan syndrome.
- To evaluate the impact of surgical interventions on patient survival and functional status.
Main Methods:
- Retrospective analysis of 84 Marfan syndrome patients diagnosed between 1959 and 1987.
- Categorization into early surgical, late surgical, and nonsurgical groups.
- Cardiac catheterization and long-term follow-up data collection.
Main Results:
- Cardiovascular manifestations at presentation included diastolic murmur (57%) and cardiomegaly (38%).
- Cardiac catheterization revealed high rates of aortic root dilation (85%), aortic regurgitation (73%), and aortic dissection (33%).
- Late surgical group patients more frequently received composite graft repair (13/19) compared to the early surgical group (2/16).
Conclusions:
- Cardiovascular complications, especially aortic dissection and rupture, are the primary cause of mortality in Marfan syndrome.
- Modern surgical approaches, including composite graft repair, are associated with improved long-term survival and functional capacity.
- Patients treated with later surgical interventions demonstrated better functional outcomes post-operation.