Marfan Syndrome: 30 Years of Research = 30 Years of Additional Life Expectancy

Reed E. Pyeritz ^1*

¹ Hospital of the University of Pennsylvania, United States

^* To whom correspondence should be addressed. E-mail: reed.pyeritz{at}uphs.upenn.edu.

Accepted 28 October 2008

Abstract

Natural History v. Clinical History Clinicians should be focused on two characteristics of any disorder: natural history and clinical history. The former is defined by manifestations and outcomes that typically occur in the absence of management. The latter is the course of the disease when health professionals and even patients themselves intervene. The concepts are clearly related in a number of ways. One challenging aspect of this interrelationship results from improved clinical history: as patients live longer, ‘new’, age-dependent features of the disease emerge. These concepts are well illustrated by Marfan syndrome (MFS). This autosomal dominant heritable disorder of connective tissue is not rare—with a prevalence of one in a few thousand—and has major cardiovascular involvement (1,2). Myxomatous deterioration of the AV valves leads to prolapse in the majority and moderate regurgitation or worse in some. Dysrrhythmia is common (3). A dilated cardiomyopathy occurs in some. The most characteristic and troublesome feature is dilatation of the aortic root, which predisposes to dissection and sudden death, and to chronic aortic regurgitation due to stretching of the commissures. Other organ systems and tissues are affected, especially the skeleton, eye, lung and dura (1). As patients are living longer, involvement of other organs is becoming evident (4).