Turk Kardiyol Dern Ars. 1997; 25(9): 537-544
Echocardiographic Findings in Nine Children and Three Grown-up Relatives with Marfan Syndrome
Ümit Bilge SAMANLI1
, Ayşe SARIOĞLU1
Marfan syndrome is an autosomal dominant connective tissue disorder involving the cardiovascular, musculoskeletal and ocular systems. Of all the signs and symptoms involved in this syndrome, the cardiovascular are the most worrisome, since main cause of morbidity and mortality are aortic root aneurysm and rupture, as well as severe mitral regurgitation. Twelve cases in five families with Marfan syndrome (nine children and three young adults) have been discussed in terms of echocardiographic findings. All of the twelve cases had mitral valve involvement revealing as mitral valve prolapse (with "floppy" mitral valve in eight) and chordal elongation which proved statistically meaningful when compared with measurements from the mitral chordae and mitral leaflet tip taken from a control group comprising twelve healthy individuals. In eight of the twelve cases mitral valve pathology was associated with aortic root dilatation, "localized" to the aortic sinuses in three cases and "generalized" to involve the proximal ascending aorta in five. The three young adults, although the aortic root measurements were below 4 cm as yet, had the severest cardiac envolvement compared to the children, which was in agreement with the general cansensus in the literature that cardiac lesions in Marfan syndrome are progressive with age. After a review of literature on the Marfan syndrome, we would like to emphasize that early detection of cardiac lesions in this rare but important syndrome and regular follow-up to detect worsening may be life-saving since medical and surgical intervention have been shown to improve life quality survival rate.
How to cite this article
Ümit Bilge SAMANLI, Ayşe SARIOĞLU. Echocardiographic Findings in Nine Children and Three Grown-up Relatives with Marfan Syndrome. Turk Kardiyol Dern Ars. 1997; 25(9): 537-544