The mitral valve in Marfan's syndrome.

Abstract

The most common cardiovascular manifestation of Marfan's syndrome is considered to be aneurysmal dilatation of the ascending aorta, which frequently leads to aortic insufficiency or a dissecting aneurysm (2, 7). Some reports, however, include associated mitral lesions in addition to secondary aortic insufficiency (2, 7, 11, 12). Mitral valve disease may be due to secondary rheumatic fever or, as pointed out more recently, may represent a specific primary manifestation of Mafan's syndrome (1, 16, 17). Mitral insufficiency may be the only hemodynamic abnormality and may be of such marked degree that it requires surgical correction (5, 16). The purpose of this study is to review proved cases of mitral insufficiency due to Marfan's disease and to describe the angiographic findings which may suggest a correct etiological diagnosis. Since Marfan's original report in which he emphasized his patients' skeletal changes, lesions of virtually all of the central cardiovascular structures have been reported (3, 4, 7, 9, 10, 13, 15, 19, 24). Cystic medial necrosis of the aorta with aneurysm is the most common lesion and may occur in infancy (23). This early appearance of a gross (macroscopic) aortic abnormality may be of considerable aid in the x-ray diagnosis of the syndrome. Many lesions of the mitral valve have been described in Marfan's syndrome. In fact, the first mention of a mitral valve abnormality dates from the first autopsied case in 1912, when Salle reported anomalous tendon-like attachments between valve leaflets in a male infant (19). Other defects in the valve which have been reported include “fibromyxomatous” thickening, fenestration of a leaflet, abnormally long chordae with prolapse of the valve into the left atrium, nodules along the valve margins, as well as superimposed lesions of endocarditis and scarring interpreted as old rheumatic valvulitis (11, 14, 17, 20, 21). One unusual case of aneurysm of a mitral leaflet with no evidence of an inflammatory etiology was reported in a patient with aortic changes consistent with Marfan's syndrome (6). In an increasing number of cases, the role of inflammatory disease in producing most of the mitral lesions became subject to doubt. In Reynolds' review in 1950, histological changes consistent with rheumatic valvulitis were noted, but he concluded that the number of lesions that were “atypical” argued against rheumatic carditis as the cause of many of the lesions collected (18). About the same time, Tobin et al. reported 2 new cases and stated, after histologic study, that the “...changes proved not to be the rheumatic changes suspected grossly” (22). McKusick in 1955 stated that ”in no instance has an unmistakable rheumatic lesion such as mitral stenosis been found clinically or at post mortem in a patient with arachnodactyly” (12).