Cardiomyopathy in Marfan Syndrome

Objectives: This report evaluates the incidence of cardiomyopathy in patients with Marfan syndrome (MFS) who underwent surgery for primary cardiovascular sequelae of this genetic disorder. Likewise, we aim to determine the influence of myocardial protection to the susceptibility of myocardium to ischemia in MFS patients.

Methods: Between April 1986 and May 2012, 421 Marfan patients were surgically treated for cardiovascular manifestations. Among tthem, 47 (mean age 39.45 ± 12.64, median 36, range 19-66, years), without previous surgeries, eventually developed cardiomyopathy. Eleven patients underwent revascularization for ischemic heart disease. Twenty-three patients developed end-stage cardiomyopathy, of whom 21 underwent primary heart transplantation. Two patients are still waiting for donor hearts. Thirteen patients with poor left ventricular (LV) function are currently on mechanical circulatory support.

Results: In this series, the incidence of development of ischemic cardiomyopathy without prior surgery is 23.4% The incidence of end-stage cardiomyopathy in MFS who underwent heart transplantation without any prior surgery is 48.93%. The incidence of end-stage cardiomyopathy in patients with MFS who underwent mechanical circulatory support device implantation without any prior surgery is 27.6%. At a mean follow-up of 9.4 ± 1.37 (median 9.8, range 6.8-13.98) years, survival rate is 51.8%. Marfan patients with cardiomyopathy who underwent coronary revascularization for ischemic heart disease had a survival rate of 54.5%. Those with end-stage cardiomyopathy who underwent heart transplantation had a survival rate of 50%. The survival rate of Marfan patients with cardiomyopathy who had a ventricular assist device is likewise 50%. In these patients who developed cardiomyopathy, there is no significant difference in survival rates (p = 0.56) when type of myocardial protection and duration of ischemia were considered. However, 6 patients, with significant aortic regurgitation, developed postoperative LV dysfunction.

Conclusions: Our finding support the existence of primary cardiomyopathy in a subset of patients with MFS. This cardiomyopathy is unrelated to any other cardiovascular manifestations of the disease, and affect both ventricles. We confirmed primary myocardial impairment in 11.1% of our MFS patients. The type of myocardial protection and duration of ischemia do not appear to trigger the development of cardiomyopathy.