Cardiovascular Management of Adults with Marfan Syndrome

Abstract

Marfan syndrome (MFS) is a disease in which connective tissue becomes weak secondary to fibrillin-1 mutations, resulting in aortic dilatation, aneurysm formation, aortic dissection, aortic regurgitation and mitral valve prolapse. This autosomal dominantly inherited condition, which was first reported in 1895 and was more fully described in 1931, is characterised by abnormal Fibrillin-1 protein (FBN1) (discovered in 1990), which is encoded by the FBN1 gene (reported in 1991). In the 1970s, the life expectancy of people with MFS was 40-50 years, mainly due to increased risk of aortic dissection or heart failure from aortic or mitral regurgitation. However, due to advances in medical and surgical therapy, life expectancy has improved dramatically and is now comparable to that of the general population. We discuss the cardiac manifestations of MFS, the incidence of arrhythmia in this population, the standard of medical care for arrhythmia and valve insufficiency, and a new use of preventive medication to preserve the integrity of the aortic wall in patients with MFS.

Keywords: Marfan syndrome; aortic aneurysm; aortic root; arrhythmia; management; mitral valve.

Figure 1:. A Potential Molecular Pathway of Dysregulation of Transforming Growth Factor-beta Leading to Aneurysms and Dissections

Figure 2:. Diagram of Ascending and Descending Aorta with Expected Diameters in Healthy Adults

Figure 3:. The Classification of Aortic Dissection