Survival and complication free survival in Marfan's syndrome: implications of current guidelines

Abstract

Objective: To evaluate survival and complication free survival in patients with Marfan's syndrome and to assess the possible influence of recently revised guidelines for prophylactic aortic root replacement in these patients.

Methods: 130 patients who had been attending one institution over 14 years were evaluated. Kaplan-Meier analysis was performed in 125 patients who did not present with aortic root dissection as the first sign of Marfan's syndrome, with the end points: death, aortic root dissection, and prophylactic aortic root replacement after diagnosis. In the patients developing aortic root dissection, current guidelines for prophylactic aortic root replacement were retrospectively applied to investigate the number of dissections that could theoretically have been prevented. The guidelines were: (1) aortic root diameter >/= 55 mm, (2) positive family history of aortic dissections and aortic root diameter >/= 50 mm, and (3) aortic root growth >/= 2 mm/year. Outcomes following emergency surgery (15 patients) and prophylactic surgery of the aortic root (30 patients) were compared.

Results: Five and 10 year survival after diagnosis was 95% and 88%, and the five and 10 year complication free survival was 78% and 66%, respectively. Thirteen patients developed dissection, 30 underwent prophylactic repair, and 82 had an uncomplicated course. Eleven dissections could theoretically have been prevented by application of the current guidelines. Five year survival following emergency and prophylactic repair of the aortic root was 51%, and 97%, respectively.

Conclusions: Survival in the Marfan's syndrome in the past 14 years seems satisfactory; with application of current guidelines, it has probably even improved. However, because of the high fatality rate in Marfan patients developing aortic root dissection, more extensive screening for Marfan's syndrome and a search for additional risk factors are desirable.

Figure 1

Kaplan-Meier curves of survival (uninterrupted line), survival without aortic root dissection (dotted line), and survival without aortic root complications (dashed line) in 125 Marfan patients. The numbers of patients followed up are given in the lower part of the figure.

Figure 2

Subdivision of 125 patients into the three groups A, B, and C, according to aortic root complication. Absolute numbers are indicated, with deceased patients in brackets.

Figure 3

Hypothetical clinical course of 13 patients with Marfan's syndrome who developed aortic root dissection in the previous 14 years, when current guidelines were retrospectively applied. n, number of patients; *annual aortic root growth rate of > 2 mm/year. In 11 of the 13 patients, current guidelines would have indicated the need for prophylactic aortic root surgery before dissection occurred.

Figure 4

Kaplan-Meier survival curves of 30 patients who underwent prophylactic replacement of the aortic root and 15 patients who underwent emergency replacement of the aortic root. The numbers of patients during follow up are indicated in the lower part of the figure. A significant difference between the survival curves is demonstrated (p < 0.0001).