Cardiomyopathy in Marfan syndrome

Objectives: This report aims to evaluate the existence of primary and secondary cardiomyopathy in patients with Marfan syndrome (MFS) who underwent surgical management for primary cardiovascular sequelae of this genetic disorder. Likewise, we aim to determine whether the myocardium in MFS is susceptible to ischaemia independent of myocardial protection used during surgery.

Methods: Between April 1986 and May 2012, 421 patients with MFS were surgically treated for cardiovascular manifestations. Among them, 47 (mean age: 39.45 ± 12.64, median: 36, range: 19-66, years) eventually were surgically treated for cardiomyopathy. They were grouped into A: patients who subsequently developed ischaemic cardiomyopathy and eventually underwent coronary revascularization for coronary artery disease (n = 11); B: patients who subsequently developed end-stage cardiomyopathy for which a mechanical circulatory support device was implanted to support the failing heart (n = 13) and C: patients who subsequently developed end-stage cardiomyopathy (n = 23), among whom 21 underwent primary heart transplantation, while 2 patients are still waiting for donor hearts.

Results: Retrospective analysis of the medical records of 47 patients revealed the following: In Group A, 3 (27.2%) patients had already existing ischaemic cardiomyopathy before the first various cardiovascular surgeries, while ischaemic cardiomyopathy in the other 8 (72.7%) developed postoperatively. The interval between previous surgery and development of cardiomyopathy was a mean of 8.0 ± 07 years. In Group B, 5 (38.4%) had existing primary cardiomyopathy prior to surgery, while 8 (61.5%) developed end-stage cardiomyopathy postoperatively. The interval between previous surgery and development of cardiomyopathy was a mean of 9.0 ± 4 months. In Group C, 5 (21.7%) had been diagnosed with cardiomyopathy prior to the cardiovascular surgery, while 18 (78.2%) developed end-stage cardiomyopathy postoperatively. The mean interval between previous surgery and development of cardiomyopathy was 3 ± 0.9 years. At a mean follow-up of 9.4 ± 1.37 years, the overall survival rate is 51.8%. Categorized based on the surgical treatment done for cardiomyopathy, survival rates of 54.5% (the mean follow-up of 9.35 ± 1.8 years), 40.1% (mean follow-up of 7.01 ± 2.8 years) and 70% (mean follow-up of 10.5 ± 2.0 years) were seen in Groups A, B and C, respectively. There is no significant difference in survival rates (P = 0.56) among groups. Likewise, the type of myocardial protection and duration of ischaemic times were not significant (P > 0.78) to the development of cardiomyopathy.

Conclusions: Our finding supports the existence of cardiomyopathy in a subset of patients with MFS. Marfan cardiomyopathy appears to be independent of the type of myocardial protection and duration of ischaemia.